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121.
Norihiko Natori 《Journal of human genetics》1992,37(3):235-239
Summary The patient was a 9-year-old boy. He began to walk at the age 1 year and 8 months and began to speak at the age of 2 years, suggesting retarded mental and motor development. A diagnosis of DMD was made when he was 7 years old. On admission, the patient exhibited a peculiar thin and long face, large auricles, narrow palate, malalignment of the teeth, epicanthus, saddle nose, and simian lines in addition to symptoms consistent with DMD. Chromosome analysis showed fragile X at Xq27 at a frequency of 20%. His mother also showed fragile X at the same position. Since the atypical features of this DMD patient are all explained as fragile X syndrome, this case was considered to be a very rare instance of DMD whose clinical pictures were modified by fragile X syndrome. 相似文献
122.
本文应用凝集素免疫电镜和冷冻断裂电镜技术,通过对6例DMD患者组和4例健康对照组骨骼肌细胞膜的观察,发现RCA-I和WGA凝集素受体主要分布在肌质膜上,DMD患者有40%左右的肌质膜存在局限性的受体分布缺损区,并且DMD肌质膜的PF面和EF面上的膜蛋白颗粒还明显减少,从分子病理学水平证实了DMD存在肌细胞膜的异常。 相似文献
123.
Yuji Mizuno Mikiharu Yoshida Ikuya Nonaka Shunsaku Hirai Eijiro Ozawa 《Muscle & nerve》1994,17(2):206-216
We examined whether the dystrophin-associated glycoprotein complex (GPC), which serves to fix dystrophin to cell membranes, is present at the sarcolemma in Duchenne muscular dystrophy (DMD) muscles using an immunohistochemical method. Antibodies against 50DAG (A2) and 43DAG (A3a). the components of GPC, were used for the detection of GPC. We found that, although the amount of GPC was reduced in DMD muscles where ulrophin but not dystrophin was distinctly present, 43DAG (A3a) was fairly heavily and 50DAG (A2) was lightly but distinctly stained on the cell surfaces. It is likely that the capability of utrophin to preserve 50DAG (A2) is less than that of dystrophin, although utrophin has been reported to bind to GPC. We also found that 43DAG (A3a) but not 50DAG (A2) was detected in the peripheral nerves where utrophin was detected. Therefore, it is likely that 43DAG (A3a) is essential for the fixation of utrophin to cell membranes, as in the case of dystrophin. 50DAG (A2) may play other important roles in the pathogenesis of DMD. © 1994 John Wiley & Sons, Inc. 相似文献
124.
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy 总被引:12,自引:0,他引:12
Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation. 相似文献
125.
126.
Gianluigi Perri Sergio Filippelli Rachele Adorisio Roberta Iacobelli Francesca Iodice Giuseppina Testa Maria Giovanna Paglietti Domenico DAmario Massimo Massetti Antonio Amodeo 《The Journal of thoracic and cardiovascular surgery》2017,153(3):669-674
Objective
We report our experience with the use of a left ventricular assist device (LVAD) as destination therapy (DT) for the management of patients with cardiac end-stage dystrophinopathies.Methods
From February 2011 to February 2016, 7 patients with dystrophinopathies and dilated cardiomyopathy (DCM) were treated with LVADs at our institution. Median age at surgery was 16.5 years (range, 14.2-23.4 years). All patients were preoperatively evaluated by a multidisciplinary team approach.Results
All patients survived to hospital discharge. The early postoperative course was characterized by abdominal bleeding (1 patient) and retropharyngeal bleeding (1 patient). Because of abdominal or retropharyngeal bleeding, both required postoperative heparin infusion discontinuation for 35 and 33 days, respectively. Among the late complications, 1 child developed osteolysis and infection at the pedestal site of the device, which required surgical displacement; 1 patient required gastrostomy as a result of poor feeding, and another had a cerebral stroke, which was treated with percutaneous thrombus aspiration. The other 2 patients did not show early or late complications. At a median follow-up time of 21.7 months (range, 3-45 months) there have been 3 deaths: 1 patient died of a lung infection after 45 months, 1 died of tracheal bleeding after 29 months, and 1 died of cerebral hemorrhage after 14 months.Conclusions
Our experience indicates that the use of an LVAD as DT in patients with dystrophinopathies with end-stage DCM is feasible, suggesting that it may be suitable as a palliative therapy for the treatment of these patients with no other therapeutic options. 相似文献127.
羊水CK、LDH、Mb联合检测进行DMD产前诊断的临床研究 总被引:2,自引:0,他引:2
采用羊水肌酸激酶(CK)、乳酸脱氩酶(LDH)、肌红蛋白(Mb)联合测定进行12例DMD产前诊断与产后复查.部分病例经PCR检测对照研究。证实羊水CK的诊断符合率为83.3%(10/12);LDH为58.3%(7/12)IMb为90%(10/11)。三者联合检测综合判定产前诊断符合率达95%以上。 相似文献
128.
毛细管电泳多重PCR诊断杜氏/贝氏进行性肌营养不良 总被引:3,自引:1,他引:3
目的用毛细管电泳技术结合多重PCR方法分析DMD基因缺失位点,以建立一种快速、准确、适用于临床的DMD的诊断技术.方法将对缺失热区18对引物分成两套,用毛细管电泳分析7个DMD/BMD家系中的7名患者的二步多重PCR产物.结果毛细管电泳能快速、准确分离18对引物多重PCR产物,判断出DMD基因缺失位点.结论毛细管电泳定量PCR方法能高效、准确、快速诊断缺失型DMD患者,具有很好临床应用价值. 相似文献
129.
Judith M. Lionarons Danique M.J. Hellebrekers Sylvia Klinkenberg Catharina G. Faber Johan S.H. Vles Jos G.M. Hendriksen 《European journal of paediatric neurology》2019,23(1):152-157
Attention-deficit hyperactivity disorder (ADHD) is a common comorbidity in Duchenne muscular dystrophy (DMD). Until now, treatment with methylphenidate (MPH) has never been systematically assessed and described in this population. Our aim was to evaluate the effectiveness and safety of short acting MPH for learning problems in males with DMD and ADHD. Neuropsychological (cognition and behavior) and medical data of a sample of ten males (mean age = 8.1 years, range 6.3–9.8) with DMD and an ADHD diagnosis was retrospectively analyzed at baseline (T0; without MPH), short-term follow-up (T1; with MPH; mean interval T0-T1 = 8.3 months, range 4.3–15.6), and long-term follow-up (T2; mean interval T1-T2 = 23.1 months, range 2.6–77.7). An initial MPH dose of 5 mg/day was given on school mornings, with an increase of 2.5–5 mg/week depending on individual tolerance and treatment response, until a sufficiently effective dose was reached (range 0.2–0.6 mg/kg/day). At T1, results demonstrated an improvement in attention (i.e. concentration, impulsivity, and distractibility) in four patients. Suboptimal effects were reported in four patients, and no effects in two patients. At T2, seven patients showed considerable improvement in attention. No major side effects were reported. Overall, our data show that short acting MPH can be clinically effective for learning problems in males with DMD and ADHD, with regular cardiac follow-up, and close monitoring of side effects and neuropsychological effects. Furthermore, this underscores the importance of the use of validated cognitive and behavioral measurement tools with adequate sensitivity to objectively evaluate the effect of MPH. 相似文献
130.
Both G Alexander I Fletcher S Nicolson TJ Rasko JE Wilton SD Symonds G 《Pathology》2011,43(6):642-656
This review discusses gene therapy as a new treatment paradigm where genetic material is introduced into cells for therapeutic benefit. The genetic material is the 'drug'. It can have a transient or ongoing effect depending on whether or not the introduced genetic material becomes part of the host cell DNA. Different delivery and gene technologies are chosen by investigators to maximise gene delivery to, and expression within, the target cells appropriate for the disease indication. The presence and expression of the introduced genetic material is monitored by molecular means so that treatment efficacy can be assessed via changes in surrogate and/or actual markers of disease. Of interest to the pathologist will be the approaches being developed for the disease indications highlighted and the monitoring of treatment efficacy. 相似文献