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Objective:To investigate the clinical phenotypes, therapy and genetic features of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.Methods:Retrospective analysis was carried out on clinical data of five cases of PDE children with early epilepsy onset who were treated in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University from February 2018 to November 2019. Next generation sequencing approach was used for genetic sequencing of proband ALDH7A1 gene and the first generation Sanger was used for validation of family members. And the characteristics of gene mutations were analyzed.Results:Among the five children diagnosed with PDE, the male to female ratio was 4 ∶ 1 and ages at clinic visit ranged from two months to 10 months old. In clinical phenotypes, all five cases experienced onset in neonatal period, with repeated seizures, manifested as myoclonus, spasms or focal paroxysm. The administration of antiepileptic drugs performed poorly in seizure control while long term oral intake of large dose pyridoxine showed better efficacy. All the five cases of children came from compound heterozygous mutations of father and mother, i.e. slicing homozygous mutation c.247-2(IVS2)A>T, missense mutation c.584A>G (p.N195S) and nonsense mutation c.1003C>T(p.R335 *), missense mutation c.1553G>C(p.R518T) and c.1547A>G(p.Y516C), missense mutation c.1547A>G(p.Y516C) and frameshift mutation c.1566_1568delTAC, missense mutation c.1061A>G(p.Y354C) and nonsense mutation c.841C>T(p.Q281X, 259), among which c.247-2(IVS2)A>T was novel splicing site mutation not reported before. Conclusions:PDE is induced by ALDH7A gene mutation. Early clinical manifestations are mostly onset of refractory epilepsy in neonatal period. Antiepileptic drugs perform poorly in terms of efficacy while pyridoxine can control seizure effectively. Gene analysis should be conducted on such patients for confirmed diagnosis.
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Objective To evaluate the clinical efficacy of intensive needling stimulation at external Laogong (EX-UE 8) in treating post-stroke hand hypermyotonia.Method Sixty patients with post-stroke hand hypermyotonia were randomized into a treatment group and a control group, 30 cases in each group. The treatment group was intervened by ordinary acupuncture plus strong stimulation at external Laogong (EX-UE 8), while the control group was by ordinary acupuncture. After 8-week treatment, the modified Ashworth Scale (MAS) was used to assess the muscular tension of the affected limbs, Fugl-Meyer Assessment (FMA) was for assessing motor function of the affected hand, and Activities of Daily Living (ADL) was used to evaluate the activities of daily living before and after the intervention.Result The MAS, FMA, and ADL scores were significantly changed after the intervention in both groups (P<0.05). The MAS, FMA, and ADL scores of the treatment group were significantly different from that of the control group (P<0.05).Conclusion Acupuncture at external Laogong (EX-UE 8) with intensive stimulation is an effective approach in treating post-stroke hand hypermyotonia.