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Biomedical subjects

E S Ho

Publications and source records attributed to E S Ho.

At least 37 records · Page 2Linked to original sources

Second trimester selective termination in a dizygotic twin pregnancy with discordancy for Down's syndrome: a case report.

A 34-year-old woman with a twin pregnancy underwent genetic amniocentesis in a local hospital at 18 weeks' gestation. Fetal chromosome analysis showed a boy without abnormal findings (46, XY) and another boy with trisomy 21 (47, XY, +21). Sonography showed a fetal nuchal translucency thickness for the normal twin of 4.4 mm, and of 8.0 mm for the affected twin. The affected twin was terminated by ultrasonographically guided intracardiac injection of 2.5 ml (5 mEq) potassium chloride solution at 21 weeks' gestation. Serial ultrasound scans and coagulopathy tests were unremarkable. Labor was induced at 39 weeks' gestation. A healthy 3,080 g male infant was born vaginally with Apgar scores of 8 and 9 at one and five minutes, respectively. At the time of writing (one month after delivery), the mother and baby continue to do well. To our knowledge, this is the second successful case in Taiwanese literature of selective birth in twins with discordancy for Down's syndrome.

Abortion, Induced↗

Mutational analysis of the BRCA1 tumor suppressor gene in endometrial carcinoma.

OBJECTIVE: To investigate whether alteration of BRCA1 tumor suppressor gene occurs in sporadic endometrial carcinomas. METHODS: Genomic DNAs were prepared from 33 consecutively collected endometrial carcinoma tissues for BRCA1 mutational analysis. To screen for BRCA1 mutation, polymerase chain reaction (PCR) amplification and single strand conformation polymorphism (SSCP) technique were used with 41 overlapping PCR primer pairs for the 23 coding exons of BRCA1. Tumors that demonstrated SSCP variants were further subjected to direct DNA sequencing in the appropriate exons to identify the DNA alteration. RESULTS: In addition to detecting a previously described polymorphism in exon 11, single strand conformation polymorphism analysis of the 33 endometrial cancers identified 3 tumors with mobility shifts. Two tumors shifted in exon 3 and showed the same pattern of band shift. The other tumor shifted in exon 9. DNA sequencing revealed sequence alterations in the 3 tumors; all appeared heterozygous. In the 2 tumors shifted in exon 3, the sequence alteration caused no amino acid change and was consistent with an infrequent silent polymorphism. In the third tumor, a missense alteration at codon 191 was detected and was recognized as germline in origin. CONCLUSIONS: Because a normal allele of BRCA1 was retained in the tumor where a germline missense alteration was detected, the heterozygous DNA alteration should not be cancer predisposing in terms of the two-hit model for inactivation of the tumor suppressor gene. We conclude that mutation of BRCA1 may not be involved in the development of sporadic endometrial cancer.

DNA Mutational Analysis↗

Prenatal diagnosis of placenta previa accreta with power amplitude ultrasonic angiography.

A case of placenta previa accreta was diagnosed at 28 weeks' gestation with use of power amplitude ultrasonic angiography, which showed an unusually intense blood flow within the placental sonolucent spaces and hypervascularity within the placental and surrounding tissues. High-velocity (> or = 15 cm/sec) turbulent venous-type flow was detected within the placental blood lakes, and prominent low-impedance (resistance index 0.24) arterial blood flow was detected within the uterine serosa-posterior bladder wall boundary zone. An uneventful cesarean hysterectomy was performed at 32 weeks' gestation, and histopathologic examination revealed placenta previa increta.

Adult↗

Efficiency of sex pre-selection of spermatozoa by albumin separation method evaluated by double-labelled fluorescence in-situ hybridization.

To evaluate the separation efficiency of Ericsson's two- and three-layer albumin separation methods, semen samples from 21 healthy males were studied. Seven patients already had two or more sons, another seven had two or more daughters and the other seven had primary infertility due to female factors. The semen samples were divided into three aliquots: one remained unprocessed initially, the other two aliquots went through two- and three-layer albumin separation methods respectively. All samples were then stained with X-Y double staining probes. In each group, four or five samples were processed at room temperature, and two or three at body temperature (37 degrees C). The labelling efficiency of X-Y double staining probe was over 99%. The X:Y sperm ratios were even in the original samples. The ratios of the X and Y spermatozoa were altered slightly but significantly after the two-layer (P < or = 0.05) or the three-layer (P < or = 0.005) separation. The alterations occurred only at room temperature. The X spermatozoa increased and the Y spermatozoa decreased, both to a small degree of difference (1.4-3.5%). Double fluorescence in-situ hybridization analysis therefore showed that albumin separation methods do not enrich Y spermatozoa.

Albumins↗

Severe limb reduction defects after uterine lavage at 7-8 weeks' gestation.

A 35-year-old multiparous Chinese woman underwent a uterine lavage procedure for prenatal sex determination at 7-8 weeks' gestation. The baby was delivered by elective Caesarean section because of breech presentation at 38 weeks' gestation. The child weighed 2425 g and had severe reduction defects of all four limbs. This case warrants advising prospective patients of a possible association and encouraging practitioners to mount a careful prenatal ultrasonography and postnatal follow-up of all pregnancies investigated by prenatal diagnostic uterine lavage.

Adult↗

Assessment of trophoblastic flow in abnormal first trimester intrauterine pregnancy.

BACKGROUND: The use of color Doppler sonography in assessing feto-maternal circulation during pregnancy has recently been advocated. However, studies of evaluation of trophoblastic flow in the first trimester of pregnancy, with color Doppler sonography, are rare. The objects of this study were to assess the trophoblastic flow in first trimester pregnancy failure by using transvaginal color Doppler sonography, and attempted to elucidate the pathophysiology of early feto-maternal circulation. METHODS: One hundred and five cases of first trimester intrauterine pregnancy were enrolled in this study, including 34 cases of blighted ova, 50 missed abortions and 21 normal pregnancies. All patients received transvaginal sonography (Acuson 128, 5MHz). First, color Doppler was mapped and then trophoblastic flow (TBF) was detected and the resistance index (RI) was calculated. Main uterine artery (UA) flow was measured in the later part of this study. Serial sonographic examinations with serum beta-human chorionic gonadotropin (beta-hCG) levels were obtained to confirm a diagnosis of pregnancy failure. Discrepancy in gestational age calculated by the last menstrual period and by sonar measurement was recorded for analysis. The aborted tissues were submitted for karyotyping from six cases of normal pregnancy, 11 cases of blighted ovum and 22 cases of missed abortion. RESULTS: Preliminary result showed TBF can be detected at as early as the fifth week of gestation. The RIs of TBF and UA seemed to decrease; however, serum beta-hCG levels increased as gestational age advanced in normal pregnancies. This change was not shown in the abnormal groups. No significant difference in the RI of TBF or UA flow was noted between normal and abnormal pregnancies. Also the result of karyotyping did not correlate well with the RIs of TBF and UA, and serum beta-hCG levels. CONCLUSIONS: The assessment of feto-maternal circulation in early pregnancy does provide information on the physiology of early normal placentation, but not of the early pregnancy failure. Limited case numbers and different time intervals between fetal demise and sonographic diagnosis may play roles in the above findings.

Chorionic Gonadotropin, beta Subunit, Human↗

Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.

Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two different point mutations in the G6Pase gene, a guanine to adenine substitution at base position 327 in exon 2 and a thymine to adenine substitution at base position 1101 in exon 5, change the restriction sites for the enzymes Fok I and Hinc II. Family study revealed that both parents were heterozygous carriers: the father with a mutant G6Pase allele at exon 2 and the mother with another mutant G6Pase allele at exon 5. This paper deals with a prenatal diagnosis on the fetus of this family who is at risk of type Ia GSD. Genomic DNA was extracted from a chorionic villus biopsy sampled at the tenth week of gestation. Exons 2 and 5 of the G6Pase gene were amplified by the polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequence analysis. DNA analysis indicated that the fetus was a heterozygous carrier of type Ia GSD with a mutant G6Pase allele at exon 2 and a normal G6Pase allele at exon 5. The diagnosis was further confirmed by the same method with cultured amniocytes and with a blood sample after the baby was born. This is the first report of prenatal carrier detection of type Ia GSD at the gene level.

Chorionic Villi Sampling↗

Overexpression of p53 is not a feature of ovarian granulosa cell tumors.

The p53 tumor suppressor gene has been extensively studied in various human tumors including epithelial ovarian cancers. However, little is known about the expression of this gene in ovarian granulosa cell tumors, the most common histologic type of sex cord-stromal tumors. We investigated whether overexpression of the p53 gene product occurs in this specific ovarian tumor. Nineteen patients with ovarian granulosa cell tumors were recruited in this study. Immunohistochemical staining for the p53 protein with monoclonal antibody PAb 1801 was performed in the paraffin-embedded tissue of each case to screen for p53 overexpression. Among the 19 ovarian granulosa cell tumors, there was only one well-differentiated tumor found to have nuclear immunoreactivity in a small fraction of tumor cells. Polymerase chain reaction--single-stranded conformation polymorphism was used to study the tumor showing focal p53 positivity, but no mobility shift was noted from exon 4 through exon 9 of the p53 gene. On the basis of this observation, we propose that alteration of the p53 tumor suppressor gene is not a common finding in ovarian granulosa cell tumors.

Adolescent↗

High complete response rate of concomitant chemoradiotherapy for locally advanced squamous cell carcinoma of the uterine cervix.

A prospective study with a newly designed schedule of concomitant chemoradiotherapy was initiated for 42 patients with previously untreated squamous cell carcinoma of the uterine cervix. Their ages ranged from 34 to 77 years, median 57 years. There were 13 FIGO stage IIB, 1 IIIA, 27 IIIB, and 1 IVA. Radiotherapy was administered using 1.8 Gy/day, 5 days a week, to the whole pelvis (50.4 Gy/28 fractions) with local boost if indicated. Intracavitary brachytherapy of 5 Gy for five times was delivered after 1-2 weeks of rest. The first 21 patients received concomitant chemotherapy of biweekly PEB regimen (100 mg/m2 etoposide + 50 mg/m2 cisplatin + 50 mg/m2 bleomycin) for two to three cycles during external irradiation. The chemotherapy for the latter 21 patients was modified to weekly PEBF (50 mg/m2 etoposide + 20 mg/m2 cisplatin + 10 mg/m2 bleomycin + 800 mg/m2 5-FU, mixed in normal saline, 24-hr continuous iv infusion) for five to six cycles. All except 1 patient achieved complete response (97.6%) and sustain so after a median follow-up time of 30 months. There were three relapses--one with persistent pelvic disease and two with distant metastasis. Two-year overall survival and disease-free survival rates were 97.6 and 92.9%, respectively. Myelosuppression was moderate but fully recovered. Other acute toxicities were tolerated except for 1 patient who encountered grade IV radiation colitis with cecum perforation and required surgery. As to late morbidity, the incidence of radiation proctitis was high (21.4%) but of a mild degree, with 1 patient needing repeated transfusion. One patient developed chronic cystitis with an acontractile bladder. Our preliminary results show that concomitant chemoradiotherapy for advanced cervical carcinoma is both feasible and effective with acceptable toxicities. Further follow-up is mandatory to ensure whether this high complete response protocol will translate into long-term local control and survival.

Adult↗

Association of repeat sequences with integrated retroviruses in a murine leukaemia cell line.

An analysis was made of the retroviral integration sites for retroviruses in a murine lymphoid precursor cell line, C1-V13D, derived following in vitro infection with RadLV, an ecotropic murine retrovirus. A genomic library was constructed and lambda clones were selected for their capacity to hybridize with the specific RadLV gp70 ecotropic env probe. Analysis of these clones by a combination of approaches, including subcloning, partial restriction mapping and sequencing, has confirmed the existence of multiple recombinant and defective viruses in C1-V13D. To check for the presence of coding sequences in flanking genomic DNA, 32P-labelled cDNA from C1-V13D was used to probe HindIII- and Psti-digested virus-positive lambda clones by Southern analysis. Regions hybridizing specifically with 32P-labelled C1-V13D cDNA were subcloned and analysed. A notable feature of these cDNA+ regions was the frequent presence of B1, B2 and simple repeats. These repeat elements were found to be present in high frequency in the genomic regions flanking the proviruses, in numbers higher than expected for the genome as a whole. All full-length viruses isolated appeared to represent integration events into regions rich in repeat elements. Some B1 and B2 repeats have been shown to code for functional proteins and to play regulatory roles. Viral integration in the vicinity of these genetic elements could contribute to oncogenesis if the integration event were to disrupt normal gene function.

Animals↗

Overexpression or mutation of the p53 tumor suppressor gene does not occur in malignant ovarian germ cell tumors.

BACKGROUND: The p53 tumor suppressor gene has been well studied in epithelial ovarian cancers. However, little is known of the expression of this gene in ovarian germ cell tumors. The authors attempted to investigate whether p53 alterations occurred in this group of tumors. METHODS: Twenty-two patients with malignant ovarian germ cell tumors were included in this study. Immunohistochemical staining for p53 was performed on paraffin embedded tissue of each case. Single-strand conformation polymorphism analysis of exons 4-9 of the p53 gene was performed on 9 of the 22 tumors where genomic DNAs were obtained from the frozen tissue samples. Three tumors that revealed focal p53 positivity by immunostaining were studied further with direct DNA sequencing. RESULTS: Overexpression of p53 was not observed in all of the 22 ovarian germ cell tumors; only 3 were found to have nuclear staining in a small fraction of the malignant cells (< 5% in 1 immature teratoma, 5-10% in 2 yolk-sac tumors). Among the nine frozen tumors subjected to single-strand conformation polymorphism analysis, none revealed p53 mutation in exons 4-9. There was no p53 mutation detected by DNA sequencing of the three tumors with focal immunoreactivity. CONCLUSIONS: Alterations of the p53 tumor suppressor gene may not be associated with the pathogenesis of ovarian germ cell tumors. Instead, genetic changes such as inactivation of other tumor suppressor genes and/or activation of some protooncogenes need to be studied to determine the genetic mechanisms of the tumor development.

Adolescent↗

An evaluation of chemotherapy in patients with cancer of the cervix and lymph node metastases.

During the past twelve years, out of the 288 cervical cancer patients who had lymph node involvement, the recurrence rate in the lymph node, was 26.6% if one or two nodes were involved and 50.8% if three or more nodes were involved (P < 0.0001). The recurrence rate of patients who received eight intravenous treatments (at monthly intervals) of multi-agent chemotherapy was lower than those who did not receive treatment. Of patients with one or two positive lymph nodes, 114 received treatment while 50 did not; their respective recurrence rates were 19.3% and 42.0%, a statistically significant difference (P < 0.025). Of patients with three or more positive lymph nodes, 97 received treatment and 27 did not, their respective recurrence rates, were 46% and 66% (P = 0.30) and the difference is not statistically significant. It would seem that multi-agent chemotherapy may reduce the recurrence rate in patients with cancer of the cervix and positive lymph nodes.

Antineoplastic Combined Chemotherapy Protocols↗

Modified pelvic anterior exenteration.

During a 20-year time period, 117 patients with various histologic types of cancer underwent pelvic exentereation. Six of the 107 patients who needed anterior exenteration with urinary diversion received partial excision of the urinary bladder and modification surgery, of which three had uretero-cystostomy, two had mobilization of bladder and uretero-cystostomy and one had uretero-uterostomy. These six patients, except for two, died of disease in 1 year. Two patients are alive and happy, with quality of life because they can urinate normally. We suggest that anterior exenteration should be modified whenever possible to preserve the bladder and not to do an urinary diversion.

Female↗

Induction of leukemia in mice using a radiation leukemia virus-induced cell line: a model system for studying oncogenic progression.

Leukemogenesis induced by slowly transforming retroviruses is a multistep process which is difficult to dissect because of its long latency and the problem of distinguishing oncogenic from differentiative events. A method for leukemia induction in mice has been developed using a cell line isolated following in vitro infection with the slowly transforming murine radiation leukemia virus (RadLV). The CI-V13D cell line represents a lymphoid precursor cell type at an early stage in cell transformation and can develop subcutaneous tumors in irradiated syngeneic hosts but not in allogeneic mice even after sublethal irradiation. Selective growth in allogeneic (CBA/H) mouse thymus has been demonstrated, but this requires preirradiation of the recipient. Upon reisolation from CBA/H thymus, C1-V13D progeny clones displayed increased tumorigenic potential in comparison to the 'parental' CI-V13D cell line. Tumorigenicity was shown to increase with serial passage through thymus and electron micrographs of clones also revealed increased production of C-type retroviruses. This new model for oncogenic progression should be more amenable to analysis of early genetic changes occurring during replication of leukemia in the thymus.

Animals↗

Leukaemogenic progression: the importance of differentiation and associated genetic events.

A feature common to many blood cell cancers is the uncoupling of normal proliferative and differentiative events, both of which are intimately linked in the cell's developmental programme. In some cancers, further differentiative events have been associated with oncogenic progression and, in other cancers, terminal differentiation of cells has been shown to result in reversal of malignancy and death of the cancer cell. Clearly the development of cancer is not the result of a single oncogenic event, but rather a myriad of events which appear to proceed in concert in a step-wise fashion and which are likely to be influenced by the cellular environment. Here we review some of the major genetic changes which occur in leukaemogenesis and discuss the possible role of differentiative events in the development of leukaemia.

Animals↗

Prenatal diagnosis of placental chorioangioma: contribution of color Doppler ultrasound.

A case of placental chorioangioma was diagnosed at 35 weeks' gestation using color Doppler ultrasound. Color flow imaging showed an intraplacental hypoechoic mass fed directly by the anomalous chorionic tumor vessels arising from the insertion of the umbilical cord. Hypervascularization was present in some areas of the tumor. The diagnosis of typical 'angiomatous' type was confirmed by histopathological examination following delivery.

Journal Article↗