Prenatal diagnosis of a familial Y long-arm and chromosome 15 short-arm translocation inherited from a mother carrier.

OBJECTIVE: We present prenatal diagnosis of a familial Y long-arm and chromosome 15 short-arm translocation inherited from a mother carrier. CASE REPORT: A 34-year-old primigravid woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a derived chromosome 15 or 15p+ with an additional material on the short arm of chromosome 15. Cytogenetic analysis of the parents revealed that the phenotypically normal mother carried the same 15p+ variant, and the father had a karyotype of 46,XY. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed no genomic imbalance. Polymorphic DNA marker analysis using the DNAs extracted from cultured amniocytes and parental bloods excluded uniparental disomy (UPD) 15. C-banded preparations and metaphase fluorescence in situ hybridization analysis using a Yq12-specific probe showed a positive stain on the 15p+, indicating the origin of Yq on the short arm of the derivative chromosome 15. The karyotype of amniocentesis was 46,XX,der(15)t(Y;15)(q12;p13)mat. The mother had a karyotype of 46,XX,der(15) t(Y;15)(q12;p13). At 39 weeks of gestation, a 3006-g healthy female baby was delivered with no phenotypic abnormality. During follow-up at age six months, she manifested normal physical and psychomotor development. CONCLUSION: Prenatal diagnosis of a 15p+ variant should include a differential diagnosis of genomic imbalance and UPD 15, and aCGH and polymorphic DNA marker analyses are useful under such a circumstance.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. CASE REPORT: A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral karyotyping (SKY) using 24-color SKY probes and fluorescence in situ hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A healthy female baby was delivered at 37 weeks of gestation with no phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The female infant was normal in growth and psychomotor development during follow-ups at two months of age. CONCLUSION: aCGH, SKY and FISH are useful in prenatal diagnosis of an sSMC derived from the centromeric region of a non-acrocentric chromosome.

Huge pelvic mass, cutaneous and vaginal fistulas, and bilateral hydronephrosis: a rare presentation of actinomycosis with a good response to conservative treatment and with long-term sequelae of renal atrophy and hydronephrosis.

OBJECTIVE: Actinomycosis with an extended pelvic abscess is an uncommon condition, which usually occurs coincident with the presence of an intrauterine contraceptive device (IUD) in the uterine cavity. The clinical picture of pelvic actinomycosis may vary between individuals, is often accompanied by complications, and is frequently misdiagnosed. Here, we report a case of pelvic actinomycosis, presenting as a huge pelvic mass and complicated by a vaginal fistula, a cutaneous fistula, and bilateral hydronephrosis, and we discuss the diagnosis and management of this patient. CASE REPORT: A 35-year-old woman was referred to our hospital with a huge pelvic complex mass and progressively worsening low abdominal pain. The tumor workup, which included a computed tomography (CT) scan, revealed an extended pelvic abscess and bilateral hydronephrosis. Both cutaneous and vaginal fistulas were also noted. Endometrial curettage and biopsies of the skin and vaginal lesions confirmed the diagnosis of actinomycosis. The patient underwent conservative treatment and recovered well, although the skin lesion only healed after 12 weeks of oral antibiotic treatment. At the 1-year follow-up, a CT scan showed sequelae including a mildly atrophic left kidney and left hydronephrosis. CONCLUSION: In patients presenting with a pelvic mass and an IUD in the uterine cavity, the diagnosis of actinomycosis should be seriously considered. A detailed workup, including a CT scan, endometrial curettage and biopsies where possible, should be performed before surgery. Once diagnosis has been confirmed, conservative medical treatment should be attempted before considering laparotomy, to reduce the risk of complications. Despite successful treatment with antibiotics, long-term sequelae such as hydronephrosis and renal atrophy are possible in cases of extended pelvic actinomycosis.

CTLA-4 gene and susceptibility to human papillomavirus-16-associated cervical squamous cell carcinoma in Taiwanese women.

Human papillomavirus (HPV) is considered to be a necessary but not sufficient cause for cervical cancer. The host immunogenetic background plays an important role in the persistence of HPV infection and subsequent development of cervical cancer. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a molecule expressed mainly on activated T cells and is important in the down-regulation of T-cell activation. The aim of this study was to determine if polymorphisms of the CTLA-4 gene are associated with HPV-induced cervical cancer in Taiwanese women. Polymerase chain reaction-restriction fragment length polymorphism was used to genotype -318 C/T, +49 A/G and CT60 A/G polymorphisms in 144 women with cervical squamous cell carcinoma (CSCC) and 378 ethnicity-matched healthy control women. The presence and genotypes of HPV in CSCC were determined by E6-, E7-based nested polymerase chain reaction. The frequency of C/T genotype of -318 C/T polymorphism was significantly higher in patients with HPV-16-positive CSCC compared with controls (odds ratio = 1.99, 95% confidence interval = 1.16-3.42, P(c) = 0.03). No significant associations were found for +49 A/G and CT60 A/G polymorphisms. Analysis of haplotypes, computationally inferred from genotype data, also revealed no significant differences in distribution among all subjects with CSCC, those with HPV-16-positive CSCC and controls. Our results suggest that the -318 C/T variant in the promoter region of the CTLA-4 gene is associated with HPV-16-associated CSCC in Taiwanese women.

A comparative study of the safety and efficacy of 0.5% levobupivacaine and 0.5% bupivacaine for epidural anesthesia in subjects undergoing elective caesarean section.

BACKGROUND: Levobupivacaine is the S(-)-enantiomer of the racemic bupivacaine. Data of pharmacological studies suggest that levobupivacaine has a lower potential of toxicity for central nervous and cardiovascular systems than does bupivacaine. The present study was undertaken to compare the safety and efficacy between levobupivacaine and bupivacaine in epidural anesthesia for Cesarean delivery. METHODS: A prospective, controlled, double-blinded study was conducted in 45 ASA class I-II Taiwanese obstetric patients undergoing elective Caesarean Section under extradural anesthesia. Patients were randomized to receive either 25 ml of 0.5% bupivacaine or 0.5% levobupivacaine in a double-blinded fashion. The end points of measurements relevant to efficacy included onset, fade-out, and quality of anesthesia. The safety end-point measurements included Apgar scores, maternal ECG, maternal and neonatal blood pH, and adverse events. RESULTS: There was no significant difference between groups in the profile of sensory and motor blockade produced. Comparison of visual analogue pain scores did not show significant differences between groups at the corresponding times. There were no significant differences between groups in muscle relaxation scores assessed by obstetricians as well as the overall assessment of block quality rated by anesthesiologists. Apgar scores, maternal and neonatal blood pH, maternal ECG, and adverse events did not differ between groups. The drug-related adverse events were hypotension and shivering which were equally seen in levobupivacaine and bupivacaine groups. There was no other serious adverse event that happened in both groups. CONCLUSIONS: The onset and fade-out of sensory and motor blockade, quality of anesthesia, muscle relaxation and overall quality of anesthesia as assessed were comparable between two groups. No significant maternal or neonatal adverse events were found between the treatment groups. In comparison, levobupivacaine had the efficacy and safety profile equivalent to bupivacaine in epidural anesthesia for Caesarean section.

Cessation of low-dose gonadotropin releasing hormone agonist therapy followed by high-dose gonadotropin stimulation yields a favorable ovarian response in poor responders.

PURPOSE: This study is a prospective nonrandomized study to determine the effect of a new protocol of controlled ovarian hyperstimulation (COH) using low doses and a half-period of gonadotropin releasing hormone agonist (GnRHa) followed by high doses of gonadotropin in patients who were supposed to be poor responders to standard long protocols of GnRHa administration. METHODS: From Dec 1996 to Nov 1998, 50 patients who were classified as "poor responders" were scheduled for 52 cycles of a modified controlled ovarian hyperstimulation protocol. They were categorized into 3 groups: a group of poor responders to COH in the previous IVF or IUI cycles, a group with elevated Day 3 FSH levels, and a group over the age of 40 years. All patients received GnRH agonist from the midluteal phase of the previous cycle to the onset of menstruation in the next cycle. Then high doses of gonadotropins (HMG/FSH) were given. The patients then had standard courses of in vitro fertilization and embryo transfer (IVF-ET) or transfallopian embryo transfer (TET). RESULTS: Six of the 52 cycles of the modified protocols were cancelled because of poor ovarian response. One premature ovulation was noted before ovum retrieval was performed. In the other 45 cycles, an average of 6.3 mature oocytes were retrieved. The total pregnancy rate and implantation rate were 20.5 and 11.5%, respectively. CONCLUSIONS: The low dose and half duration of GnRHa therapy lessened the suppression of the response of the ovaries to COH compared with the regular long protocol of GnRHa down regulation therapy. This resulted in a low cancellation rate (11.8%), a favorable embryo implantation rate (11.5%), and an acceptable clinical pregnancy rate (20.5%).