Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

Application and Security Observation of Acupuncture in Labor Analgesia / 上海针灸杂志

Objective To observe the therapeutic efficacy and safety of acupuncture and epidural anesthesia during full-term labor. Method A total of 199 eligible subjects experiencing natural labor were randomized into four groups. The acupuncture group was intervened by acupuncture at acupoints; the epidural group was given epidural anesthesia;the combined analgesia group was given acupuncture at acupoints plus epidural anesthesia; the control group was not given any interventions for analgesia. The Visual Analogue Scale (VAS) was adopted to record and compare labor pain (cervix dilation 3 cm at 0 min, 30 min, and 60 min, and at full cervix dilation); meanwhile, the active period of the first stage of labor, cervix dilation speed, the second stage of labor, Caesarean section (C-section) rate, instrumental delivery rate, Apgar score, and post-labor bleeding amount (2 h) were also recorded. The contents of blood β-endorphin (β-EP) and 5-hydroxytryptamine (5-HT) were monitored during the first stage of labor. Result Compared with the control group, the VAS scores dropped in the other three groups, and the decreases were similar in the epidural group and combined analgesia group, while the decrease in the acupuncture group was the least significant. Regarding the labor-related indexes, the cervix dilation speed was higher in the acupuncture group than in the control group(P0.05). There were no significant between-group differencesin comparing the post-labor bleeding amount and Apgar score of the new-born babies(P>0.05), but compared with the epidural group, there was no use of assisted delivery. The content of blood β-EP during the first stage of labor increased in the acupuncture group and combined analgesic group(P0.05). Conclusion Acupuncture analgesia can reduce labor pain and shorten labor duration without affecting the second stage of labor and security-related indexes.

An assessment of nutritional status of 25-hydroxy vitamin D and PTH in puerperal and pregnant women / 国际检验医学杂志

Objective To investigate the serum calcium absorption level ,distribution level and nutritional status of 25‐hydroxy vitamin D and parathyroid hormone (PT H ) in pregnant and puerperal women .Methods A total of 740 healthy pregnant women and puerperal women in the perinatal clinic of our hospital from September 2014 to August 2015 were recruited as the observation group and divided into second trimester group ,third trimester group and puerperal group .Contemporaneous 100 healthy non‐preg‐nant women were chosen as the control group .The levels of serum 25‐hydroxy vitamin D and PTH in all research subjects were de‐tected by using the electrochemiluminescence method .Then the differences of detection results were compared among various groups .Results The serum 25‐hydroxy vitamin D level was (57 .9 ± 18 .2)nmol/L in the second trimester group ,(39 .4 ± 15 .0) nmol/L in the third trimester group ,(65 .1 ± 19 .6)nmol/L in the puerperal group and (78 .6 ± 16 .2)nmol/L in the control group , the differences among groups were statistically significant (P<0 .05) .The serum PTH level in the third trimester group was higher than that in the second trimester group ,the difference between the two groups was statistically significant (P<0 .05) .Serum calci‐um ,magnesium and alkaline phosphatase levels in the observation group were lower than those in the control group with statistical‐ly significant (P<0 .05) .Conclusion Pregnant and puerperal women usually have low levels of calcium and magnesium ,and 25‐hy‐droxy vitamin D deficiency .It is necessary to supply vitamin D and other mineral elements when taking calcium supplement .

HANS in treating spasiticity resulting from spinal cord injury / 中国康复理论与实践

@#Surface transcutaneous electric nerve stimulation(TENS) was applied to treat the spasiticity resulting from spinal cord injury(SCI) in the acupoints of the subjects with SCI in order to oberve thetranscient and long-term effect of the treatment Fand its mechanism will be discussed in this paper. The results show that: 1 )more significant effect in relieving the spasiticiy was got by stimulating in high frequencyfor 30minutes,while less effect in low frequency(2Hz) ; 2)the effect in high frequency was partially ostracized by naloxone; 3)the effect in high frequency lasted for a long time i 4)compared with lumbar and sacralstimulation,the acupoint stimulation lasted for the longest time. This study also gets a hypothesis that highfrequency TENS in acupoints improves dynorphin in CSF to release and significantly relieve the spasiticityby kappa opioid receptor which decreases the excitment of anterior motor neuron.