OBJECTIVETo explore genetic mutation and clinical treatment for a patient with globozoospermia.

METHODSHistomorphology of the sperms was studied by Wright-Giemsa staining and transmission electron microscopy. Potential mutation of the DPY19L2 gene was detected by PCR amplification and Sanger sequencing.

RESULTSWright-Giemsa staining showed that all spermatozoa from the patient were round-headed and lacked the acrosome, with the nuclei of sperm head stained in dark and full. Transmission electron microscopy revealed large round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. The patient has harbored a homozygous deletion of the DPY19L2 gene. With intracytoplasmic sperm injection (ICSI) treatment, fertilization rate of the oocytes has reached 28.6%, which resulted in a successful pregnancy. A healthy male was born.

CONCLUSIONThe homozygous deletion of DPY19L2 probably underlies the globozoospermia in this case, for which ICSI has provided an effective treatment. However, there is still a risk of low oocyte fertilization rate or fertilization failure. Further studies are required.

Adult ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Male ; Membrane Proteins ; genetics ; Mutation ; Sperm Injections, Intracytoplasmic ; Teratozoospermia ; genetics

Objective To investigate the effect of acupuncture combined with Shenfu injection on brain injury and hemodynamics after cardiopulmonary resuscitation in patients with cardiac arrest.Methods A total of 100 patients who underwent cardiopulmonary resuscitation after cardiac arrest admitted to 903rd Hospital of the Joint Support Force of PLA from May 2019 to May 2022 were selected as the research objects,and they were divided into acupuncture group and combined group,with 50 cases in each group according to the random number table method.The acupuncture group was given acupuncture therapy,and the combined group was injected Shenfu injection on the basis of acupuncture group.S100β,neuron specific enolase(NSE),National Institutes of Health stroke scale(NIHSS)score,mini mental status examination(MMSE)score,hemodynamic index,Glasgow coma scale(GCS)score,acute physiology and chronic health evaluation Ⅱ(APACHE Ⅱ)score and incidence of adverse reactions were compared between two groups.Results After treatment,S100β,NSE,NIHSS score,APACHE Ⅱscore,and heart rate(HR)of two groups were significantly lower than those before treatment,MMSE score,GCS score,cardiac output(CO),central venous pressure(CVP),mean arterial pressure(MAP)were significantly higher than those before treatment(P<0.05).S100β,NSE,NIHSS score,APACHE Ⅱ score and HR in combined group were significantly lower than those in acupuncture group,and MMSE score,GCS score,CO,CVP,and MAP were significantly higher than those in acupuncture group(P<0.05).The incidence of adverse reactions in combined group was significantly lower than that in acupuncture group(χ2=6.453,P=0.011).Conclusion Acupuncture combined with Shenfu injection treatment can improve brain injury and hemodynamics after cardiopulmonary resuscitation in patients with cardiac arrest,and the effect is significant.