Relieving throat and opening orifice acupuncture therapy for the post-stroke dysphagia

Objectives: To observe the effectiveness of acupuncture therapy for relieving throat and opening orifice on dysphagia due to different brain infarct sites.Methods: According to the random number table, 128 patients with post-stroke dysphagia were divided into group A(63 cases, intervention with deglutition training and acupuncture) and group B(65 cases,intervention with simple deglutition training). The conventional treatment and deglutition rehabilitation training in neurology department were used in the two groups. In group B, according to patient's condition, the rehabilitation trainings, such as respiration and neck movement range were used selectively.In group A, on the base of deglutition training, acupuncture therapy for relieving throat and opening orifice was supplemented. The acupoints included Sìshéncōng(四神聪EX HN 1),Bāihuì(百会GV 20), Tàiyang(太阳EX-HN5) bilateral, Fēngchi(风池GB 20) bilateral and Shésānzhēn(舌三针).Electrostimulator was attached on EX-HN 1, bilateral GB 20 and Shesanzhen(舌三针). Needles were retained for 30 min in each treatment. The treatment was given once a day, 5 treatments a week and the treatment for 3 weeks as 1 course. After 6 weeks of treatment, the deglutition ability scale developed by Fujishima Ichiro was adopted to determine the therapeutic effects and observe the score increase for dysphagia related to brain infarct sites before and after treatment.Results: In assessment after 6-week treatment, the improvements of deglutition ability were different corresponding to different brain infarct sites in group A. Specially, the improvements in the patients with dysphagia related to cerebral hemisphere infarction in group A were better than group B(8.68 ±1.12 vs7.32 ±0.91, P<0.05), followed by the improvements in the patients with dysphagia related to internal capsule/basal ganglia/diencephalon infarction(6.53 ±0.65 vs 6.36 ±0.84, P>0.05). Regarding the therapeutic effects in comparison of the two groups, the total effective rates in dysphagia related to cerebral hemisphere infarction were different between the two groups significantly(96.67% vs 82.75%, P< 0.05), as well as in the patients related to internal capsule/basal ganglia/diencephalon infarction(88.89% vs 66.67%,P<0.05). The therapeutic effects were not different in the patients related to cerebral stem and cerebella infarction between the two groups(P>0.05).Conclusion: The acupuncture therapy for relieving throat and opening orifice combined with deglutition training achieves the satisfactory therapeutic effects on dysphagia induced by cortical infarction in stroke.However, a large sample and multicentral clinical trial with this therapy is needed for a further argument so that this therapy is likely promoted in clinical practice in future.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Background:Although many causative genes of hereditary spastic paraplegia(HSP)have been uncovered in recent years,there are still approximately 50% of HSP patients without genetically diagnosis,especially in autosomal recessive(AR)HSP patients.Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population.Methods:In this study,we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing(NGS),Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA).Further functional studies were performed to identify pathogenicity of those uncertain significance variants.Results:We identified 11 mutations in HSP related genes including 7 novel mutations,including two(p.V1979_L1980delinsX,p.F2343 fs)in SPG11,two(p.T55 M,p.S308 T)in AP5Z1,one(p.S242N)in ALDH18A1,one(p.D597fs)in GBA2,and one(p.Q486X)in ATP13A2 in 8 index patients and their family members.Mutations in ALDH18A1,AP5Z1,CAPN1 and ATP13A2 genes were firstly reported in the Chinese population.Furthermore,the clinical phenotypes of the patients carrying mutations were described in detail.The mutation(p.S242 N)in ALDH18A1 decreased enzyme activity of P5CS and mutations(p.T55 M,p.S308 T)in AP5Z1 induced lysosomal dysfunction.Conclusion:Our results expanded the genetic spectrum and clinical profiles of AR-HSP patients and further demonstrated the efficiency and reliability of targeted NGS diagnosing suspected HSP patients.