ABSTRACT
OBJECTIVE:To observe the effects of Sodium chloride injection and Glycerine enema on the relief of postoperative defecation pain,edema around wound and incision in patients with complex anal fistula. METHODS:100 patients with complex anal fistula were selected and divided into group A(33 cases),B(33 cases)and C(34 cases)according to random number table. Group A was given Sodium chloride injection 300-500 ml,water bath heated to 35-37℃,into the rectum via enema bag before defecation,and defecated after controlling defecation for 5-10 min. Group B was given Glycerine enema 110 ml into the rectum,and defecated after controlling defecation for 5-10 min. Group C could defecated directly when they felt obvious defecation desire. VAS score of initial defe-cation,defecation frequence and time within 24 h after initial defecation,edema around wound and incision within a week after initial defecation were observed in 3 groups as well as the occurrence of ADR. RESULTS:VAS score of initial defecation,defecation fre-quence and time,edema around wound and incision in group A and B were significantly lower/shorter than in group C,with statistical significance(P0.05). No obvious ADR was found in group A and B during treatment. CONCLUSIONS:Both Sodium chloride injection and Glycerine enema can relieve postoperative defecation pain in patients with complex anal fistula,and reduce edema around wound and incision with good safety. The two drugs should be selected according to patient’s condition.
ABSTRACT
Objective To identify disease-causing mutations in a large panel of Chinese Han patients with hereditary spastic paraplegia(HSP).Methods The coding sequence of the SPG11 gene in the probands of 28 families with ARHSP and 14 sporadic HSP patients was analyzed,and the identified changes in the sequence were tested to exclude being a benign polymorphism by sequencing 200 chromosomes from normal controls.Results Identified 13 causative mutations in SPG11 gene in 7 ARHSP and 3 sporadic HSP The mutations were:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.Among them,12 were novel mutations.The rate of mutation in the SPG11 gene was 25.0%(7/28)in ARHSP,6/6 in ARHSP-TCC and 3/14 in sporadic cases.Conclusions In Chinese Han population,patients with ARHSP-TCC and sporadic HSP-TCC should be screened for SPG11.Sequencing of the SPG11 gene in these patients with is valuable for clinical diagnostic testing.
ABSTRACT
Objective To investigate clinical and genetic characteristics of Chinese patients with hereditary spastic paraplegia (HSP).Methods To perform retrospective analyses of clinical data from 179 HSP Han Chinese patients from Xiangya Hospital and National Laboratory of Medical Genetics of China.Results The 179 patients comprised of 114 familial cases (from 41 families with AD inheritance and 37 families with AR inheritance ) and 65 sporadic cases.Genetic anticipation was not found, and nonpenetrance was observed in some HSP families.Male to female ratio was 1.84 to 1.The mean age of onset was ( 18.1 ± 14.0) years, and the mcan duration of disease was ( 12.3 ± 11.5) years.AD-HSP patients had an older age of onset ( ( 19.7 ± 14.0) years) and a longer duration ( ( 17.9 ± 14.4) years) than ARHSP patients (t =2.196 and 4.404, P value were less than 0.05 and 0.01 respectively).Most AD patients manifested as "pure" form, while "complicated" form occurred more frequently in AR patients (F =19.322, P ＜ 0.01 ).Leg stiffness and clumsiness were often the early symptoms at the beginning of the disease, and the most common leg signs were hypertonia, hyperreflexia and pathological reflexes.Other signs included ankle clonus (46.9% ), weakness (42.5% ) and deformities (30.7% ).Ataxia, dysarthria,mental retardation, and foot deformity were more frequently seen in AR-HSP patients than AD-HSP patients,but the frequency of urinary symptoms was higher in AD-HSP patients.Among 65 patients with MRI examination of the head, 13 cases and 9 cases showed corpus callosal dysplasia and cerebellar atrophy,respectively.In addition, spinal cord atrophy was found in 7 of 45 patients undergone MRI examination of the spine.Conclusions Adolescent onset of HSP is common, and more males than females are affected.When compared with AR-HSP, AD-HSP patients have an older age of onset, a longer duration, and more marked urinary symptoms.Most AD-HSP cases are of "pure" form, while most AR-HSP cases manifest as "complicated" form with ataxia, dysarthria, and mental retardation.Dysplasia of corpus callosum is commonly seen in AR-HSP individuals than AD-HSP.HSP manifest gender-related clinical heterogeneity,illustrating the phenomenon of "female protection".