Research progresses in influencing factors of cognitive dysfunction in benign childhood epilepsy with centrotemporal spikes / 中华神经科杂志

Benign childhood epilepsy with centrotemporal spikes (BECT) is the most common childhood idiopathic focal epilepsy and used to be considered as one of the childhood epilepsy syndromes with the best prognosis. In recent years, more and more studies have found that patients with BECT have varying degrees of cognitive dysfunction. This article reviews some of research progresses in the clinical features, neuropsychology and neuroimaging of patients with BECT, in order to explore the effects of seizures, age of onset, interictal discharges, changes of brain structure and functional network, as well as antiepileptic drugs on cognitive function in patients with BECT.

Genetic diagnosis of 154 patients with suspected spinal muscular atrophy and its clinical value / 中华检验医学杂志

Objective To explore the clinical value of genetic diagnosis of SMA,the homozygous deletion of survival motor neuron 1 (SMN1) gene in suspected spinal muscular atrophy (SMA) patients were analyzed in this study.Methods A total of 154 patients suspected with SMA and 20 healthy volunteers were recruited from January 2007 to December 2014 in the Genetic Diagnosis Center of the First People's Hospital of Yunnan Province and the Department of Neurology of the Fourth Affiliated Hospital of Kunming Medical University.Potential deletions in exons 7 and 8 of SMN1 gene were screened by use of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method in both 154 patients suspected with SMA and 20 healthy volunteers.The frequencies of the deletions in exons 7 and 8 of SMN1 were calculated and statistical analysis of different deletion types among 3 SMA groups was performed with SPSS 13.0 software package.Results Among 154 suspected SMA patients,101 cases with homozygous deletions of exon 7 of SMN1 gene were detected,which accounted 65.6％ (101/154) of the suspected SMA patients.Among the 101 SMA patients,97.0％ (98/101) of the patients with both homozygous deletions of exons 7 and 8 for SMN1 gene and 3.0％ (3/101) of the patients with homozygous deletions of only exon 7 for SMN1 gene were detected.The patient with only deletion of exon 8 for SMN1 gene was notdetected.Four cases with negative results were subjected to be followed-up,but they were characteristic of SMA symptom by clinical re-visit.Thus,total 105 patients were confirmed with SMA,among them,68 were type Ⅰ SMA,27 were type Ⅱ SMA,and 10 were type Ⅲl SMA,which accounted for 64.8％ (68/105),25.7％ (27/105) and 9.5％ (10/105) of the SMA patients,respectively.Type Ⅳ SMA was not observed in these patients.No deletion was detected among 20 healthy volunteers.Conclusions PCR-RFLP assay is a noninvasive,simple,high sensitive and specific method for SMA diagnosis,which can be considered as the first-line genetic test for the suspected SMA patients.It will help to improve the accuracy of clinical diagnosis and the detection rate by strengthening the clinical diagnostic criteria and re-evaluating the suspected patients after negative genetic diagnosis.

The value of multiple neurophysiological tests in the early diagnosis of diabetic peripheral neuropathy / 中华物理医学与康复杂志

Objective To investigate the value of nerve conduction studies (NCSs),F wave analysis,somatosensory evoked potential (SEP) and skin sympathetic response (SSR) in the early diagnosis of diabetic peripheral neuropathy (DPN).Methods A total of 110 patients with diabetes mellitus were recruited as the diabetic group and another 50 well-matched healthy volunteers as the normal controls.Sensory and motor NCSs of the median,ulnar,posterior tibial and common peroneal nerves were performed.F waves were recorded from the median and posterior tibial nerves.SEPs elicited by stimulation to nerves of both the upper and lower limbs as well as SSRs were measured,all in both the diabetic group and the normal controls.Results The total rate of nerve conduction abnormality was 74.5％ in the diabetic group,with sensory nerve conduction abnormalities more frequent and more severe among motor nerves in the extremities.The total rate of F wave abnormalities was 57.3％ in the diabetic group.The rate in patients with normal distal motor conduction in their median and posterior tibial nerves was 50.7％.The total SEP abnormality rate was 70.0％ with regard to the proximal peripheral nerve potentials in the diabetic group,but there was no obvious abnormality of the supraclavicular electrical potential in the upper limbs for those with normal sensory nerve conduction in the median nerve.The rate of occurrence of abnormality in the gluteus point potential in the lower limbs of those with normal posterior tibial sensory conduction was 62.5％.The total rate of SSR abnormalities was 80.0％ in the diabetic group but 72％ among those with normal nerve conduction in their extremities.Combining the NCS,SSR,SEP and F wave results,the total abnormality rate was 90.9％ in the diabetic group,which was much higher than with any single test used alone.Conclusion NCS is essential for diagnosing DPN.Early diagnosis of subclinical diabetic neuropathy will be significantly enhanced when nerve conduction,SSRs,SEPs and F waves are tested together.