Breast cancer,ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome

BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Patients with PJS have increased risk for gastrointestinal, breast, and female genital tract cancers. CASE: Multiple genital tract cancers in a 34-year-old woman with PJS are described. The patient, who was admitted to our department with severe vaginal bleeding, was performed right salpingo-oophorectomy because of pure gonadoblastoma in 1996. In 2003, concomitant to cervical carcinoma, breast cancer was diagnosed. Patient underwent left modified radical mastectomy due to the invasive papillary carcinoma. The patient received six cycles combination chemotherapy and radiation therapy because of stage IIIB cervical cancer. CONCLUSION(S): This is the first case report presenting PJS associated with multiple genital tract tumors including ovarian gonadoblastoma in literature. The clinical significance of these tumors in PJS patients has been reviewed.     

Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy

INTRODUCTION: Tuberous sclerosis is an autosomal dominant disorder of hamartoma formation that can manifest as cardiac or central nervous system lesions and adversely affect maternal and fetal outcome. CASE REPORT: We report a case of maternal tuberous sclerosis with fetal cardiac rhabdomyoma detected in utero at 26 weeks gestation. CONCLUSION: To conclude, a pregnancy complicated by maternal or fetal tuberous sclerosis deserves careful vigilance and the fetus should undergo prenatal fetal Doppler echocardiography and if possible an MRI, so that parents can be counseled regarding its future prognostic implications.     

Huge filarial elephantiasis vulvae in a Nigerian woman with subfertility

Filariasis is a helminthic infection caused by tissue nematodes. It is estimated that at least 120 million people are infected worldwide and another 1 billion are “at risk” of infection. The prevalence is increasing due to uncontrolled urbanization in many of the endemic countries. The geographical distribution is determined mainly by climate and the distribution of the mosquito vector. We report a case of huge filarial elephantiasis of the vulva, in a 40-year-old multipara with background history of secondary infertility. She had excision of the elephantoid vulva lesion under general anaesthesia. A nontender irreducible pedunculated mass (25 cm × 21 cm) with a large stalk arising from the right groin down to the ipsilateral labia majora was removed. A similar mass on the left groin, measuring 10 cm × 6 cm was removed. Diagnosis was confirmed at histopathologic analysis of the excised masses. Patient was placed on diethyl carbamazine.     

A long-standing incomprehensible matter of obstetrics: meconium-stained amniotic fluid,a new approach to reason

Objective

We sought to determine whether meconium-stained amniotic fluid is based on chronic hypoxia or not? In case of chronic hypoxia, higher red blood cell (Rbc) count and/or total hemoglobin levels (Hgb) and/or higher fetal hemoglobin (HbF) and/or lower adult hemoglobin (HbA) levels were expected when compared with controls.

Design

Case–control study.

Setting

Obstetric unit of a tertiary ministry of health hospital.

Sample

Fifty singleton pregnancies with meconium-stained amniotic fluid and 50 singleton pregnancies with clear amniotic fluid at all stages of labor.

Methods

Umbilical cord blood samples were collected for determination of total blood parameters and hemoglobin electrophoresis.

Main outcome measures

Red blood cell count, total hemoglobin, fetal and adult hemoglobin contents (HbF and HbA).

Results

Red blood cell count, total hemoglobin, fetal hemoglobin (HbF) and adult hemoglobin (HbA) contents were not different between meconium stained and clear amniotic fluid groups.

Conclusion

These results suggest that meconium passage may not be associated with chronic fetal hypoxia as demonstrated by similar red blood cell count, total hemoglobin values and fetal hemoglobin (HbF) and adult hemoglobin (HbA) contents.

     

Pregnancy and tuberculosis: to assess tuberculosis cases in pregnancy in a developing region retrospectively and two case reports

Pregnancy and tuberculosis (TB)  To assess TB cases during pregnancy in a developing region retrospectively and to present two case reports. Objectives  Since TB cases activated by HIV infection during pregnancy are well reported in the literature, we aimed to investigate the aggressiveness of pulmonary TB among pregnant women and to assess the effects of TB on the fetus in Kutahya, an area where HIV positive cases are not seen. Materials and methods  The medical records between 2000 and 2005 of the Provincial Health Directorate and Dispensary Against Tuberculosis in Kutahya were reviewed and analyzed retrospectively. Results  Between 2000 and 2005, 667 pulmonary TB cases were examined in the Kutahya region. Of these, 106 occurred in women at reproductive ages between 20 and 44. All were HIV negative cases. In this area, five TB cases were found during pregnancy. There were three cases seen in the first trimester, but pregnancy was ended by curettage. Two women had pulmonary TB and gave birth. Five cases were evaluated as class 1 TB. During and after pregnancy, isoniazid, rifampin, ethambutol, and pyrazinamide (INH + RFP + ETB + PRZ) were used for the treatment. Resistance to anti-TB drugs was not seen during the treatment. Neither congenial nor neonatal TB was seen. Conclusion  Generally, TB is expected to be more aggressive during pregnancy. Since our cases were HIV negative, it can be thought that TB did not progress aggressively. Less aggressiveness and non-resistance to TB treatment in HIV-negative pregnant women compared with HIV-positive women were observed. Therefore, HIV infection results in greater mortality than the triple combination of human immunodeficiency virus, mycobacterium TB, and pregnancy. Besides, the advance of TB in pregnant women was not different from that in non-pregnant women in Kutahya. The fetus and the newborn were not affected. INH, RFP, ETB, and PRZ were used for therapy.     

Transvaginal sonographic fetal axis determination in early second trimester

Objective  Correct prenatal determination of the fetal right/left axis is essential for the diagnosis of fetal malformations, in particular congenital heart anomalies. A reliable method of transabdominal echocardiographic assessment of the fetal situs in the late second trimester was established. We aimed to determine the validity of the transvaginal approach to assess fetal axis. Method  The study group consisted of 108 consecutive women in the second trimester of a singleton pregnancy, undergoing elective transvaginal anatomy scans. All had undergone previous transabdominal echocardiography to establish fetal axis. The same technique was used to assess the fetal axis during the transvaginal study, and the findings were compared. Results  There was total agreement in fetal axis determination between transabdominal and transvaginal scans in all cases. The accuracy of the transvaginal study was not affected by maternal obesity, fetal position or the presence of cardiac malformation (in one case). Conclusion  Transvaginal ultrasonography is the reliable and accurate means of determining the fetal axis. Both affiliations are affiliated with Sackler Faculty of Medicine, Tel Aviv University.     

Impact of methylenetetrahydrofolate reductase (<Emphasis Type="Italic">MTHFR</Emphasis>) codon (677) and methionine synthase (<Emphasis Type="Italic">MS</Emphasis>) codon (2756) on risk of cervical carcinogenesis in North Indian population

Cervical cancer continues to be the most common cause of death among women in developing countries. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are critical enzymes of folate metabolic pathways. In this work, we have conducted a case–control study to assess the role of these two polymorphisms in cervical cancer development. We obtained blood samples from 200 women with cervical cancer and from equal matched controls and analysed using PCR-RFLP method. We found that the methylenetetrahydrofolate reductase variant CT and CT + TT genotypes decreased cervix cancer risk, statistically significant (OR:0.30, 95% CI: 0.18–0.51, P < 0.001 for CT and OR:0.29, 95% CI: 0.18–0.49, P = 0.0000006 for CT + TT). Similarly in those patients who used oral contraceptive with variant CT genotype, there was statistically highly significant reduced risk of cervix cancer (OR:0.25, 95% CI: –0.12–0.49, P < 0.001) of methylenetetrahydrofolate reductase gene. For the methionine synthase, 2756 variant AG and AG + GG genotypes were similarly associated with highly significant reduced risk of cervix cancer (OR: 0.13, 95% CI: 0.07–0.26, P < 0.001 for AG, and OR: 0.15, 95% CI: 0.08–0.27, P < 0.001 for AG + GG) genotypes. In conclusion, our study suggested that methylenetetrahydrofolate reductase and methionine synthase polymorphisms might have protective effect on the risk of cervical cancer in the North Indian women.     

Assessment of the response to chemotherapy in gestational trophoblastic neoplasia with vaginal metastases

Background and goals  This study is designed to survey gestational trophoblastic neoplasia with vaginal metastases (GTN + VM) manifestations, prognosis and chemotherapy response in order to consider appropriate chemotherapy regimen for these patients. There have been just a few studies about treatment of GTN + VM. Materials and methods  Patients with Stage III GTN with or without vaginal metastases who had referred to Vali-e-Asr Hospital during 1996–2006 have been selected to take part in this study and the size of metastases was measured. Then response and resistance to single and combination chemotherapy regimens have been compared in these two groups. The data were processed using SPSS system (release 10). Statistical analysis was done with X² to determine factors associated with complete clinical response. The level of significance was assigned at P < .05. Results  Forty-eight patients with stage III (with pulmonary metastases) GTN patients have been selected, 13 with vaginal metastases and 35 without vaginal metastases. Incidence of vaginal metastases in stage III was 26%. Metastases were mainly in distal part of vagina and suburethra. Chief complaint was severe hemorrhage in 25% of patients and was controlled by vaginal packing with just one exception. Group of vaginal metastases showed 66.6% resistance to first-line chemotherapy, compared to 28.6% in patients with no vaginal metastases (P-value = 0.010). Median of chemotherapy courses in low-risk vaginal metastatic patients was 5 (mean = 5.2), compared to three courses in the group without vaginal metastases. Resistance to single chemotherapy was significantly higher in GTN + VM versus GTN without VM patients and resistance was higher especially in patients with metastases with more than 3 cm (in diameter). Conclusions  Vaginal metastasis with more than 3 cm in diameter is an important prognostic factor in GTN patients. There have higher risks for severe hemorrhage and resistance to single agent chemotherapy, so in these patients combination chemotherapy, with no regard to staging and scoring, would be a better choice. An erratum to this article can be found at     

Femur fracture during abdominal breech delivery

BACKGROUND: While vaginal breech delivery, although rare, can cause femur fracture, abdominal breech delivery is not expected to cause it. CASE: A 2,490-g female infant was delivered at term by elective cesarean section for breech presentation. She sustained a fracture of the femur shaft. A simple splinting led to a complete healing of the fracture without sequelae. CONCLUSION: Although abdominal breech delivery reduces the risk of birth trauma, we must be aware that femur fracture can occur regardless of the mode of delivery.