胎儿心律失常致新生儿死亡一例

大多数的胎儿心律失常是心脏胚胎发育中的良性过程,呈一过性,预后良好。而持续性的胎儿心律失常或伴有心脏结构缺陷、胎儿水肿的心律失常,可致围生儿不良结局。报道1例合并胎儿水肿的持续性快速型室上性心律失常病例,治疗期间病情反复,于妊娠36周行剖宫产术终止妊娠,新生儿出生后3 d死亡。通过回顾患者的一般情况及诊疗过程,总结经验教训,加强临床医生对疾病及其治疗方案的认识,对于胎儿心律失常的患者应当加强围生期母儿监护,制定个体化治疗方案,以改善不良妊娠结局。     

A Case of Intrauterine Fetal Death Associated with Maternal Campylobacter coli Bacteraemia

Campylobacter species are known to cause infectious abortion in domestic animals. In humans, Campylobacter are an important cause of enteritis, an occasional cause of systemic infection and have had a rare association with abortion and perinatal infection. A case history of spontaneous abortion, at 26 weeks' duration, associated with maternal bacteraemia, due to Campylobacter coli is presented. Transmission, pathogenesis, treatment, and the need for further investigation are discussed.     

缺氧缺血后新生鼠脑c-fos表达与脑海马迟发性神经元死亡

目的　探讨围产期脑缺氧缺血后 c- fos基因表达及与脑海马迟发性神经元死亡的相关性。　方法　采用原位末端标记、免疫组化、逆转录扩增法检测缺氧缺血后新生鼠脑海马细胞凋亡与c- fos基因转录、翻译情况。　结果　观察到脑海马 CA1～ 4区凋亡标记信号。 CA 1区出现早、持续久[细胞凋亡数 :CA1区 :1h:(14.6± 2 .3) ,2 4h:(5 1± 6 ) ,72 h:(17.4± 0 .3) ;CA 4区 :1h:(1.3± 1.6 ) ,2 4h:(4 7± 8) ,72 h:(2 1.6± 0 .6 )个 / mm2 )。与对照组比较 CA1区 P<0 .0 1,CA1区、CA4区 P <0 .0 0 1。FOS表达为缺氧后即刻 (0 h)脑海马组织中阳性率增高 ,1h明显升高 ,2 h高峰持续于高水平至 4h(各时间段实验组与对照组比较 P<0 .0 5 )。脑海马内 c- fos m RNA表达高峰时间较 FOS表达约早 1h。其中高表达部位主要以实验组 CA 4区齿状回细胞为主 ,而细胞凋亡以 CA1区锥体细胞较明显。正常对照组脑海马未检测到 c- fos m RNA表达。　结论　围产期脑缺氧缺血后存在 c- fos选择性表达和迟发性细胞凋亡现象。 c- fos基因表达参与调节细胞凋亡的发生 ,其表达与迟发性细胞死亡之间可能存在复杂的相关性     

妊娠期肝内胆汁淤积症患者多药耐药3基因外显子8和12突变的研究

目的:研究多药耐药3(MDR3)基因外显子8和12突变与妊娠期肝内胆汁淤积症(ICP)的关系,探讨ICP的发生机制。方法:从29例ICP患者及32例正常孕妇的外周血中提取DNA,聚合酶链反应(PCR)扩增MDR3基因外显子8和12,对PCR产物进行DNA测序分析。结果:ICP患者和对照组PCR均扩增出目的片段,且存在多态性位点G711A及A1260G,两组的8号外显子基因型频率和12号外显子基因型频率比较,差异均有统计学意义(P<0.05,P<0.01)。结论:云南临沧地区ICP的发生可能与MDR3外显子8和12的突变有关。     

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients

BackgroundMutations in the HSD17B3 gene are associated with a 46,XY disorder of sexual development (46,XY DSD) as a result of low testosterone production during embryogenesis.AimTo elucidate the molecular basis of the disorder by chemically analyzing four missense mutations in HSD17B3 (T54A, M164T, L194P, G289S) from Egyptian patients with 46,XY DSD.MethodsExpression plasmids for wild-type 17β-hydroxysteroid hydrogenase type 3 (17β-HSD3) and mutant enzymes generated by site-directed mutagenesis were transiently transfected into human HEK-293 cells. Protein expression was verified by western blotting and activity was determined by measuring the conversion of radiolabeled Δ⁴-androstene-3,17-dione to testosterone. Application of a homology model provided an explanation for the observed effects of the mutations.OutcomesTestosterone formation by wild-type and mutant 17β-HSD3 enzymes was compared.ResultsMutations T54A and L194P, despite normal protein expression, completely abolished 17β-HSD3 activity, explaining their severe 46,XY DSD phenotype. Mutant M164T could still produce testosterone, albeit with significantly lower activity compared with wild-type 17β-HSD3, resulting in ambiguous genitalia or a microphallus at birth. The substitution G289S represented a polymorphism exhibiting comparable activity to wild-type 17β-HSD3. Sequencing of the SRD5A2 gene in three siblings bearing the HSD17B3 G289S polymorphism disclosed the homozygous Y91H mutation in the former gene, thus explaining the 46,XY DSD presentations. Molecular modeling analyses supported the biochemical observations and predicted a disruption of cofactor binding by mutations T54A and M164T and of substrate binding by L196P, resulting in the loss of enzyme activity. In contrast, the G289S substitution was predicted to disturb neither the three-dimensional structure nor enzyme activity.Clinical TranslationBiochemical analysis of mutant 17β-HSD3 enzymes is necessary to understand genotype-phenotype relationships.Strengths and LimitationsBiochemical analysis combined with molecular modeling provides insight into disease mechanism. However, the stability of mutant proteins in vivo cannot be predicted by this approach.ConclusionThe 17β-HSD3 G289S substitution, previously reported in other patients with 46,XY DSD, is a polymorphism that does not cause the disorder; thus, further sequence analysis was required and disclosed a mutation in SRD5A2, explaining the cause of 46,XY DSD in these patients.Engeli RT, Tsachaki M, Hassan HA, et al. Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients. J Sex Med 2017;14:1165–1174.     

子宫内膜癌c-abl基因的突变及临床意义

目的:研究c-abl基因在子宫内膜癌组织的突变情况及其临床意义,探讨其与子宫内膜癌的关系。方法:应用PCR技术及序列分析方法检测和分析正常子宫内膜11例(正常内膜组)、子宫内膜良性病变21例(良性病变组)、子宫内膜不典型增生16例(不典型增生组)、子宫内膜癌62例(子宫内膜癌组)中c-abl基因在外显子3(exon3)、外显子4区(exon4)的突变,及其与子宫内膜癌不同临床病理特征的关系。结果:①c-abl基因在exon3、exon4的突变总体上表现为点突变。子宫内膜癌组及不典型增生组的突变率(77.42%,56.25%)较正常内膜组及良性病变组高(0,14.29%),差异有高度统计学意义(P<0.01)。②子宫内膜癌组织中,突变率与病理类型无关,随肿瘤组织分化程度降低、临床分期增高及淋巴结转移而增高(P<0.05);③在子宫内膜癌组织中,c-abl基因在exon3、exon4区的点突变集中在3个位点,它们或单独或共同存在,影响c-abl蛋白的结构和功能。结论:c-abl基因在exon3、exon4区的突变与子宫内膜癌的发生发展有关。其突变率随着子宫内膜癌的分化、临床分期的进展和淋巴结转移而增高,该基因的突变可成为判断子宫内膜癌恶性程度的指标之一。     

Neonatal Alloimmune Thromboeytopenia: A Case Report and a Review of the Literature

Summary: A 32-year-old woman in her third pregnancy underwent fetal blood sampling because of a previous child with neonatal thromboeytopenia. At 33 weeks' gestation, fetal thromboeytopenia was diagnosed. Treatment was instituted antenatally with serial fetal platelet transfusions and corticosteroid therapy. Delivery was by Caesarean section at 37 weeks' gestation. Neonatal treatment included further platelet transfusion and immunoglobulin infusion. Recovery of the neonate was complete on discharge from hospital 10 days after birth. The aetiology, diagnosis, clinical presentations and therapeutic options in cases of alloimmune thromboeytopenia are discussed.     

Case of Accessory Ovary in the Round Ligament with Associated Endometriosis

The phenomenon of accessory ovary, initially described in 1864, is extremely rare. We report a case of an accessory ovary in a round ligament with endometriosis. At the time of laparoscopy a firm 2- to 3-cm mass was noted within the round ligament with a normal ovary visualized. Dissection and removal of the mass was performed. Histopathology revealed ovarian stroma and dense connective tissue with endometriosis. This case fulfills the criteria established in 1959 for accessory ovary and is the first case of an accessory ovary reported within the round ligament. A unique finding with the accessory ovary in this case is the presence of endometriosis. No reported cases exist of endometriosis within an accessory ovary. This information may be pertinent for evaluation of dysmenorrhea when no endometrial implants are present, or with the persistence or recurrence of endometriosis and pain after a bilateral salpingo-oophorectomy.     

HELLP综合征合并肝梗死引起产妇死亡一例及文献复习

肝梗死是一种极其罕见的致命并发症,与溶血、肝酶升高和低血小板水平为特点的HELLP综合征有关.该病可以由急性肝衰竭发展而来,增加产妇和新生儿死亡率.报告1例38岁女性,既往有妊娠期高血压病史,在妊娠31+3周分娩后发生HELLP综合征.随后发生多器官功能衰竭,尽管用血浆置换以及各种对症治疗,但患者病情逐渐恶化并出现脓毒...     

A Quick Reference Table of Interventions to Assist Families to Cope with Pregnancy Loss or Neonatal Death

ABSTRACT: This is a quick reference table of strategies for assisting families to cope with miscarriage, stillbirth, or neonatal death. Strategies are listed, with references from the medical and nursing literature.     

Acute Pancreatitis and Cholecystitis Associated with Postpartum HELLP Syndrome: A Case and Review

We report a case of preeclampsia associated with hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome and concomitant nonbiliary acute pancreatitis and cholecystitis in the first postpartum day. A thorough investigation ruled out known etiologies of both pancreatitis and cholecystitis. Following conservative treatment, the patient's HELLP syndrome, pancreatitis, and cholecystitis resolved on the third postpartum day. Preeclampsia is associated with microvascular abnormalities that may involve the splanchnic circulation. These abnormalities may cause not only HELLP syndrome but also pancreatitis and cholecystitis. Recognizing that ischemia can damage not only the liver but also the pancreas and gallbladder, could result in improvements in the diagnosis and management of pancreatitis in patients with preeclampsia.     

子宫肌瘤发病相关基因表达研究

目的:筛选子宫肌瘤发病相关基因。方法:分别提取10对子宫肌瘤及肌层组织mRNA,用Cy5-dCTP和Cy3-dCTP逆转录标记cDNA探针,然后与含14000条cDNA的表达谱芯片进行杂交,洗片。将所得芯片进行扫描、聚类分析,获得差异基因表达信息。结果:共得到39条表达差异基因,5条表达上调,34条表达下调。表达下调的基因主要与细胞周期、增殖与凋亡、DNA合成与转录及细胞信号转导相关。结论:子宫肌瘤的发生与发展可能与这些基因的表达失调相关。     

Identification of TP53 Gene Mutations in Uterine Corpus Cancer with Short Follow-up

The involvement of the TP53 tumor suppressor gene in uterine corpus cancer was investigated by single-stranded conformation polymorphism and sequence analysis of its exons 4 to 10. Mutations were found in 12 (18.5%) of 65 cases. Ten of these 12 were single-base substitutions (8 missense and 2 nonsense mutations), whereas 2 were frame-shifting mutations. TP53 gene mutations correlated significantly with advanced surgical stage of disease (P= 0.006) and unfavorable tumor histology types (P= 0.003), whereas the association to myometrial wall invasion did not reach statistical significance (P= 0.054). TP53 gene mutations also correlated significantly with allelic loss at TP53 locus (P= 0.024), absence of estrogen (P= 0.045) and progesterone receptors (P= 0.001), DNA nondiploidy (P= 0.002), and high S-phase fraction values (P= 0.002). Our results suggest that inactivation of the TP53 checkpoint function is associated with disease transition into a stage of rapid progression and spread.