Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.</p><p><b>METHODS</b>Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.</p><p><b>RESULTS</b>A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.</p><p><b>CONCLUSION</b>A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.</p>

Case-control study on conservative and operative therapy in the treatment of intra-articular fracture of calcaneus / 中国骨伤

<p><b>OBJECTIVE</b>To explore the traumatic mechanism and the effectiveness of conservative and operative therapy for intra-articular fracture of calcaneus.</p><p><b>METHODS</b>Forty-eight patients (52 feet) with intra-articular fractures were divided into two groups named as conservative group and operative group. There were 30 patients in the conservative group, including 26 males and 4 females, ranging in age from 2 to 73 years, with an average of (49.2 +/- 8.5) years. The patients in conservative group were treated with manual reduction, external fixation and functional exercise at early time. Among 18 patients in the operative group, 14 patients were male and 4 patients were female, ranging in age from 26 to 66 years,with an average of (50.1 +/- 19.3) years. The patients in the operative group were treated with open reduction and internal fixation. The height and width of calcaneus, Böhler and Gissane angles were measured before and after treatment. The assessment in the function of ankle joints was scored according to AOFAS scoring system.</p><p><b>RESULTS</b>All the patients were followed up, and the duration ranged from 8 to 18 months,with a mean of 12 months. The time of weight-bearing ranged from 3 to 6 months, averaged 4 months. The fractures were fused completely on average of 12 months. The height and width of calcaneus, Böhler and Gissane angles had no statistically significance between two groups. According to AOFAS criteria,in the conservative group, 18 patients reached an excellent result, 6 good, 5 poor and 1 bad; in operative group, 4 patients reached an excellent result, 7 good, 6 poor and 1 bad. The therapeutic effect of conservative group was better than that of operative group.</p><p><b>CONCLUSION</b>Operative therapy in intra-articular fracture of calcaneus with steel plate can directly perceive the restoration (or roughly restoration sometimes) of the anatomical shapes of calcaneus, while conservative therapy has advantages such as restoration of the anatomical shapes of calcaneus, early functional practice, early healing, and avoiding operational complications as well.</p>

MRI diagnosis of Guillain Barre syndrome / 中华神经医学杂志

Objective To analyze the characteristics and limitations of MRI diagnosis of Guillian Barre syndrome. Methods Fifteen patients with Guillian Barre syndrome (14 in acute stage, 1 in chronic stage) were performed MRI plain scans and contrast-enhanced (CE) T1-weighted images (T1WI) with fat saturation to observe the relation between MRI manifestations and clinical characteristic in peripheral nerves in the vertebral canal. Results Eight patients in acute stage appeared cauda equina nerve thickening to a varying degree by MRI plain scan and the involved nerves showed isointensity on T1WI and isointensity or slight hypointensity on T2WI. In the chronic patient, the cauda equina and the spinal nerve at all the levels of the spinal cord showed obvious thickening. CE T1WI indicated partial spinal and canda equina nerves thickening to a varying degree below T8 level in 14 acute stage patients with 2 accompanied by partial cervical nerves thickening and 2 by partial cranial nerves thickening, in the chronic patient, T1WI showed enhancement and thickening of all the spinal nerves, cauda equina and partial cranial nerves. Every patient had a symptom of weakness in lower limb, including 9 paralyses in both limbs. Enhanced MRI displayed pathologic changes in the cauda equina in all the patients, while 7 complained of weakness in both upper limbs with only 3 (43%) defined on MRI and 6 suffered from functional disorder of the cranial nerves with 3 (50%) defined on MRI. Conclusions MRI is a sensitive method to demonstrate the pathological changes of the cauda equina in GBs;however, under-diagnosis can often happen in involvements of the cervical and cranial nerves.