[Anesthesia for caesarean section in a gravida with peripartum cardiomyopathy combined with acute heart failure: a case report].

Peripartum cardiomyopathy(PPCM) is a rare but serious form of cardiac failure affecting women in the last month of pregnancy or early puerperium within six months. Clinical presentation of PPCM is similar to that of idiopathic dilated cardiomyopathy, and maternal mortality is high. An 18 year-old primigravida was admitted to our hospital at the end of forty-one weeks of gestation. She was diagnosed with PPCM complicated with heart failure. Preoperative optimization was done with a view to managing left ventricular failure. Continuous epidural anesthesia in the sitting position with lidocaine was used for cesarean section. The baby was delivered successfully. Intravenous furosemide 20 mg, morphine 10 mg, cedilanid 0.4 mg were given. Nitroglycerin and milinone infusions continued throughout the surgery titrated to the hemodynamics. The patient received inotropic agents, dieresis, vasodilators and anticoagulants post-operatively. Both the mother and the baby were discharged safely 9 days after operation.

[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].

OBJECTIVE: Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by formation of benign cartilage-capped tumors (exostoses), typically located at the juxtaepiphyseal regions of long bones. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p. EXT1 and EXT2 have been cloned and are responsible for over 80% of cases. A Chinese family with HME has been analyzed in the present study. METHODS: Linkage analysis was firstly performed to determine which of the three EXT genes could be the candidate gene, then mutation screening by PCR and direct sequencing was carried out. RESULTS: A novel nonsense mutation (c.1006C>T) in exon 6 of EXT2, which converts the codon CAA (Gln) to the stop codon (TAA) (Gln336X), was identified. Next, prenatal diagnosis was performed and the pregnancy was determined to be normal. CONCLUSION: A new EXT2 nonsense mutation was found in a Chinese family with hereditary multipe exostoses. The information was used for a case of prenatal diagnosis.

Distribution of the alleles at loci D16S539, D7S820, and D13S317 in hydatidiform mole genome from Chinese women and its relationship with clinical prognosis.

Using polymerase chain reaction and denaturating polyacrylamide gel electrophoretic techniques, we studied 53 cases of hydatidiform moles. Of these, 41 cases were genetically complete hydatidiform moles (g-CHM) whose genome were totally paternally derived. We investigated the distribution of the alleles in the short tandem repeat sequences at loci D16S539, D7S820, and D13S317 in these cases. In particular, we analyzed the allelic distribution and potential significance in cases with traceable benign and invasive moles (i.e., persistent trophoblastic tumor [PTT]). Among 41 g-CHM cases, there were six alleles at D16S539, five alleles at D7S820 (the frequencies of alleles 9 and 10 were respectively lower and higher than those in Beijing population), and seven alleles at D13S317; the heterozygosity of loci D16S539, D7S820, and D13S317 was 0.0732, 0.0976, and 0.0732, respectively. Among 23 benign cases, there were six alleles at D16S539, four at D7S820, and six at D13S317; among 11 PTT cases, there were five alleles at D7S820 and four alleles each at D16S539 and D13S317. The frequencies of allele 9 at D16S539 and allele 10 at D7S820 were higher than in benign cases (P < 0.05). There were significant differences in frequencies of alleles 9 and 10 at D7S820 between the cases and the Beijing population, and heterozygosity at the three loci was lower in the cases than in the population. In addition, invasiveness of hydatidiform mole correlated to the frequency of allele 9 at loci D16S539 and allele 10 at D7S820.

[Study of gene differential display of hydatidiform moles].

OBJECTIVE: To screen the specific molecular maker of invasive hydatidiform moles (HM) by differential display analysis. METHODS: For dot hybridization, about 1.0 microg of each cDNA sample of invasive and non-invasive HM were labeled as probes using the Dig DNA labeling and Detection Kit (Boehringer Mannheim). The specific expression fragments of invasive HM recovered from PAGE gel were re-amplified by PCR, and the PCR products were dotted onto nylon membrane and hybridized by two probes of invasive and non-invasive HM cDNA respectively. Some fragments with a strong positive hybridization signal were cloned into the polylinker of lasmid PUC19 and were sequenced. The fragments' sequences were searched for homology in the NCBI data using the BLAST (Database: GenBank Human EST entries; Posted date:Aug 31, 2004; Number of letters in database: 1,697,659,032; Number of sequences in database: 3,677,722). RESULTS: The 20 fragments in 28 bands with specific expression in invasive HM were re-amplified, of which 13 showed positive hybridization signals, and 3 were cloned into the polylinker of lasmid PUC19. A fragment in the 3 was a new expressed sequence tag (EST) and the sequence was submitted to NCBI data (dbEST_Id: 10875704; GenBank_Accn: BM403211). CONCLUSION: There are more differences in gene expression between invasive and non-invasive HMs, and differential display analyses are of a potential significance to early diagnosis of invasive HM.

[The relationship between malignant transformation and fertilization types of hydatidiform moles].

OBJECTIVE: To study the relationship between malignant transformation and fertilization types of hydatidiform moles (HM). METHODS: Fifty four HM specimens were analyzed by using multiplex STR-PCR (9 loci) to determine the fertilization types and all patients were followed-up for the human chorionic gonadotropin (hCG) over 1 year. RESULTS: Total malignant transformation cases were 10 in all the 54 HM. Ggenetics complete hydatidiform moles (g-CHM) with DNA from only paternal origin, were observed in 38 cases including 28 homozygote and 10 heterozygote cases. In homozygote and heterozygote cases,malignant transformation occurred in 8 cases of the empty eggs fertilized by single sperms and 2 by double sperms respectively. In all the 54 HMs, 16 cases of DNA from parents were genetic partial hydatidiform moles (g-PHM), and no malignant transformation occurred in each haploidy egg fertilized by double sperms. CONCLUSION: (1)Genetic complete hydatidiform moles (g-CHM) showed a higher malignant transformation risk than genetic partial hydatidiform moles (g-PHM) (P=0.024 2); (2)There was no significant difference in malignant transformation between homozygote and heterozygote of g-CHM (P=0.699).