目的:探讨X染色体异常女性患儿的核型及其临床表型。方法:常规外周血淋巴细胞培养，制备染色体，G显带进行染色体核型分析，必要时用C显带和荧光原位杂交进行验证。结果:71例患儿中，共发现X染色体数目异常29例，占异常核型的40.8%；X染色体结构异常10例，占异常核型的14.1%；嵌合体30例，占异常核型的42.3%；X-常染色体易位2例，占异常核型的2.8%。结论:X染色体异常是导致女性身材矮小、性发育异常及智力低下的重要原因。对此类患儿应进行染色体核型分析以明确病因，及早进行相应的临床干预。同时应开展相关的遗传咨询及产前诊断，以减少缺陷患儿的出生率。

Objective To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder. Methods The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses. Results The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.3::21p13→ 21p10::20p10→ 20pter), der(20) (21qter→ 21q10::20q10→ 20qter). Conclusion A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.

Objective To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). Methods Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software. Results Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5). Conclusion The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.

Autism spectrum disorder (ASD) is associated with a range of abnormalities pertaining to socialization, communication, repetitive behaviors, and restricted interests. Owing to its complexity, the etiology of ASD remains incompletely understood. The presynaptic G protein-coupled glutamate receptor metabotropic glutamate receptor 7 (mGluR7) is known to be essential for synaptic transmission and is also tightly linked with ASD incidence. Herein, we report that prefrontal cortex (PFC) mGluR7 protein levels were decreased in C57BL/6J mice exposed to valproic acid (VPA) and BTBR T+ Itpr3tf/J mice. The overexpression of mGluR7 in the PFC of these mice using a lentiviral vector was sufficient to reduce the severity of ASD-like behavioral patterns such that animals exhibited decreases in abnormal social interactions and communication, anxiety-like, and stereotyped/repetitive behaviors. Intriguingly, patch-clamp recordings revealed that the overexpression of mGluR7 suppressed neuronal excitability by inhibiting action potential discharge frequencies, together with enhanced action potential threshold and increased rheobase. These data offer a scientific basis for the additional study of mGluR7 as a promising therapeutic target in ASD and related neurodevelopmental disorders.

OBJECTIVE:To explore the genetic basis of a pedigree affected with peroneal muscular atrophy.METHODS:Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of the variant on the protein structure and function.RESULTS:Electrophysiological examination showed demyelination and axonal changes of motor and sensory nerve fibers. A heterozygous missense c.1066A>G (p. Thr356Ala) variant was found in exon 11 of the MFN2 gene in the proband and his mother, but not in his sister and father. Bioinformatic analysis using PolyPhen-2 and Mutation Taster software predicted the variant to be pathogenic, and that the sequence of variation site was highly conserved among various species. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c.1066A>G (p. Thr356Ala) variant of MFN2 gene was predicted to be likely pathogenic (PS1+ PM2+ PP3+ PP4).CONCLUSION:The heterozygous missense c.1066A>G (p.Thr356Ala) variant of the MFN2 gene probably underlay the disease in the proband, and the results have enabled genetic counseling and prenatal diagnosis for this family.

[This corrects the article DOI: 10.3389/fncel.2021.689611.].

目的:通过比较轻症及重症手足口患儿血清α-INF、β-INF及γ-INF指标,探讨其变化特点及临床意义.方法:手足口患儿88例,其中轻症患儿44例、重症患儿44例,检测两组患儿血清α-INF、β-INF及γ-INF水平变化.结果:两组患儿血清α-INF、β-INF、γ-INF变化,差异均具有统计学意义(P＜0.05).结论:手足口病患儿血清干扰素水平的变化可能与手足口病的病情进展有着密不可分的联系.

目的:对一个轴后多指(趾)畸形家系进行基因突变分析，探讨其遗传学病因。方法:采用高通量测序技术对患儿、舅舅及其父母的全外显子组进行平行测序，并用Sanger测序进行验证。应用计算机软件预测突变位点氨基酸进化保守性和突变可能导致的蛋白质结构和功能变化，分析突变位点的性质。结果:高通量及Sanger测序结果显示，先证者、母亲及其舅舅 GLI 3基因均存在第15个外显子c.4332T>A(p.Tyr1444 *)杂合无义突变，为新突变。患儿父亲未检测到该突变位点。用Mutation Taster软件预测该突变为致病性，突变区域序列在不同物种间高度保守。 结论:GLI3基因c.4332T>A(p.Tyr1444 *)杂合无义突变是其分子发病机制，突变位点的检出明确了多指(趾)畸形患儿的诊断，丰富了 GLI3基因的突变谱。

目的 通过调查分析该院临床输血病历,监测评估临床用血,提高临床合理用血水平,避免医疗纠纷.方法 对我院396份临床输血病历进行调查分析,包括输血治疗同意书、输血前九项检测、输血指征、输血治疗病程记录、输血不良反应检测及影响输血安全质量分析、输血申请报批情况六个方面.结果 396份输血病历中不合格病历88份,主要表现在输血同意书中输血前检测结果忘记填写或者填写错误(45份,占51.14％)和输血病历中病程记录不正确或未记录(32份,占36.36％),另外输血指征不合格6份,占6.82％,还有少数未及时将输血同意书放入病历中5份占5.68％.结论 临床科室虽能做到合理用血,但个别临床医师仍不能正确熟练地掌握输血流程,法律意识淡薄,为避免潜在的医疗纠纷,仍需加强对临床医师的培训及输血病历的监管.

目的 通过常规血清学方法和分子生物学方法鉴定1例B(A)04/O1型疑难血型,并探讨临床输血安全策略.方法 应用血型血清学方法对患者进行ABO血型鉴定,并采用人类红细胞ABO血型-CisAB,B(A)基因分型试剂盒PCR-SSP法对其进行ABO血型基因分型的定型.结果 患者血型免疫血清学检测结果怀疑为A亚B、B(A)或CisAB,未能准确定型.PCR-SSP法基因分型定型为B(A)04/O1型.结论 临床工作中遇到血型血清学正反定型不相符或者怀疑ABO亚型的标本时,可通过分子生物学方法对ABO血型进行准确定型,以保证临床输血工作的安全进行.

OBJECTIVE:To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML).METHODS:Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR).RESULTS:Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P< 0.05).CONCLUSION:Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.

Objective A series of immunoserological tests were performed to identify irregu Lar antibodies and to identify the causes of the inconsistent results in blood typing. Methods Blood typing tests were performed by the tube method. To identify the types and properties of irregular antibodies, anti-human-globulin tests were conducted for the identification of irregular antibodies. Extra cross matching tests, antibody absorption tests and heat release tests (56℃) were conducted as well to further confirm the antibody status of the patient. Results The blood type of the patient was AB. In his serum, Ig G antiFyb antibody combined with anti-H antibody was detected, which led to the unconformity of forward and reverse typing. His serum was incompatible with type O red blood cells. Conclusion Type O red blood cells is necessary in reverse typing tests.Irregular antibody tests is required before transfusion to identify any non-ABO type antibodies. With positive results, the antibodies detected need to be carefully confirmed and avoid such antibodies in cross matching. Transfusion of type O red blood cells may not be proceed inadequate pre-transfusion tests to ensure transfusion safety.

Objective To detect immunoglobulins and C3 and C4 in children with hand-foot-mouth disease so as to evaluate the immune status of the patients. Methods One hundred and two cases of children with hand-foot-mouth disease, including 47 cases of mild manifestations 55 cases of severe manifestations and 30 cases of healthy children Serum IgA, IgG,IgM,C3,and C4 levels were examined. Results A statistical significance (P<0.05) was noted among the three groups of children,and the child patients presented high levels of IgM and IgG antibodies compared with the healthy control. IgA,C3,and C4 levels was lower than those of healthy children. Conclusion The immune status of children with hand-foot-mouth disease produced a remarkable immunity against the virus infection,which may help for the early diagnosis and clinical managements.

目的 分析输血救治小儿外科感染性休克的作用.方法 采用随机分组的方式将2016年2月至2017年2月我院收治的外科感染性休克患儿100例分为观察组和对照组,每组50例,其中给予对照组常规救治方式,观察组在对照组基础上给予输血救治,将两组患儿的救治成功率与体温、面色以及功能反应恢复时间进行比较分析.结果 观察组45例好转、4例死亡、1例放弃治疗;对照组37例好转、11例死亡、2例放弃治疗,观察组的救治成功率显著高于对照组,差异存在统计学意义(P<0.05),观察组的体温、面色与功能反应恢复时间与对照组相比显著较低,差异存在统计学意义(P<0.05).结论 针对小儿外科感染性休克救治在常规救治的基础上给予输血救治,不仅能够降低临床死亡率,提高救治成功率,而且能够缩短患儿体温、面色及功能反应等恢复时间,在临床上推广普及很有价值.

Objective To explore the clinical significance of thrombelastogragh(TEG) in children immune thrombocytopenia (ITP).Methods The levels of blood TEG in 146 patients with ITP from the Beijing children's hospital were analyzed,and the results were analyzed statistically. The cases were divided into three groups including therapy group,observation group and alleviate group according to the PLT levels.Results There were statistical differences among the three groups of R、K、Angle and MA(P<0.01),while the treatment group was obviously lower than the reference value in MA and Angle,and difference exists in any two group in MA and Angle(P<0.01). Although there was no difference between therapy group and observation group in R(P>0.05) and K(P>0.017),there were differences between alleviate group and the others group in R(P<0.01) and K(P<0.017).Conclusions TEG is important for the treatment of children immune thrombocytopenia.

Rh血型系统是仅次于ABO系统的最具有临床意义的血型抗原，也是最复杂的遗传多态性血型系统之一[1]。母婴Rh系统血型不合是引起新生儿溶血病（ hemolytic disease of newborn，HDN）的主要原因之一，对HDN患儿实施紧急换血治疗是一种行之有效的抢救手段。但由于Rh阴性血液稀缺，经常不能满足临床需要。2015年10月，在Rh（D）阴性红细胞无法满足的情况下，经告知患儿家长风险并取得患儿家长理解，在患儿家长签字同意下，使用ABO血型与患儿血型相同的Rh（D）阳性红细胞，对1例HDN患儿进行了换血治疗，取得了满意效果。现报告如下。

目的对1岁以内小儿血型正反定型是否一致进行分析,了解小儿血型抗体产生情况。方法分别采用试管法、微柱凝胶法对临床1岁以内小儿血型分析进行血型正反定型检测。结果在4 989名临床1岁以内小儿血型分析为正反定型符合率51.3%(2 559/4 989)。结论在临床小儿血型检测中,血型鉴定以正定型为准,最好同时进行血型反定型检测。