Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesia (PKD). Methods The clinical information of 14 family members in one pedigree, including 2 patients (one treated in hos?pital, the other not treated) were analyzed and the response to treatment and prediction were followed up. DNA was ex?tracted from peripheral blood samples, and then screened for PRRT2 mutations. Results There were two male patients in the pure PKD pedigree, Prevalence rate was 14.3%,One of the PKD patients showed good response to carbamazepine as well as lamotrigine whereas other patients recovered without treatment. We detected a nonsense mutation c.797G>A (p.266R>Q) in PRRT2 gene in three family members. One affected member harboring PRRT2 mutation resulted from the incomplete penetrance of the disease,PKD and polycystic kidney disease coexist in the pedigree which showed autoso?mal dominant inheritance with incomplete penetrance and anticipation. Conclusions The curative effect of antiepileptic drugs to purely familial PKD is related to mutations and clinical features;Treatments should be decided based upon clini?cal features and mutations.

Objective:To study the timeliness incentive nursing intervention applied to rectal cancer postoperative rehabilitation of colostomy.Methods:A total of 120 cases of permanent rectal cancer patients who were treated with colostomy in Dalian University affiliated Xinhua Hospital during February 2016 to February 2019 were evenly divided into observation group and control group by random number table method. The control group were caught out by conventional postoperative rehabilitation nursing. The control group were caught out by the timeliness incentive nursing intervention. Two groups of patients were compared before and after continuous care for 3 months in many ways which included the pain degree, the time to get out of bed, the time of first eating, length of hospital stay, negative emotions, compliance, self-management ability and postoperative complications.Results:The pain degree, the first activity time away from the bed, the first time to eat and the hospital stay were 1.9±0.5, (14.36±2.43) h, (21.39±3.08) h, (8.78±0.82) d in the observation group, and 3.5±1.1, (20.02±2.97) h, (27.14±3.96) h, (11.01±1.43) d in the control group. The difference was statistically significant ( t values were 5.369- 9.539, P<0.05). The negative emotions such as anxiety and depression in the observation group scored 41.4±2.3 and 39.9±2.0 after nursing. However, the control group scored 47.6±3.8 and 45.9±2.2 after nursing, respectively. The difference was statistically significant ( t values were 3.509, 3.519, P<0.05). The self-management abilities of patients in the observation group, including emotional cognition management, general life management, disease cognitive management and colostomy nursing management were 23.43±2.12, 24.04±0.96, 23.02±3.22, and 21.43±1.75, significantly higher than those in the control group (18.96±2.82,18.89±1.69, 17.95±2.61, 16.87±2.12). The difference was statistically significant ( t values were 17.712-18.879, P<0.05). The compliance of the observation group in nursing, rehabilitation and reexamination was 0.79±0.19, 0.98±0.23 and 0.87±0.35, significantly higher than those of the control group (1.02±0.26, 1.58±0.36, 1.46±0.43). The difference was statistically significant ( t values were 5.532, 5.221, 5.645, P < 0.05). The incidence of postoperative complications in the observation group was significantly lower than that in the control group. The incidence of observation group was 8.33% (5/60), and the incidence of control group was 23.33% (14/60). The difference was statistically significant ( χ 2 values were 5.065, P<0.05). Conclusions:Timeliness incentive can obviously shorten the postoperative recovery time of colostomy patients in getting out of bed and capacity to eat, length of hospital stay. It can relieve the postoperative pain and the negative emotions, and also improve compliance and relieve self-management ability, and reduce the occurrence of postoperative complications.