Objectives To compare prospectively maternal acceptance of fetal and neonatal virtuopsy with that of conventional autopsy and to determine the confidence with which magnetic resonance (MR) virtuopsy can be used to diagnose normality/abnormality of various fetal anatomical structures. Methods
We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero-diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.
BACKGROUND: To investigate the value of neoadjuvant chemotherapy (NACT), followed by interval debulking surgery (IDS), in endometrial cancer with transperitoneal spread (stage IV). METHODS: Patients with endometrial cancer with transperitoneal spread, as determined by laparoscopy ( ± pleural effusion), were treated with NACT. Efficacy was determined according to the Response Evaluation Criteria in Solid Tumors, residual tumour at IDS and histopathological assessment of tumour regression. RESULTS: A total of 30 patients (median age: 65 years; range:44 -81 years) received 3 -4 cycles of NACT (83% paclitaxel/carboplatin). Histopathological subtypes were as follows: serous (90%), clear cell (3%) and endometrioid (6%) carcinoma. Response according to RECIST was as follows: 2 (7%) complete remission, 20 (67%) partial remission, 6 (20%) stable disease and 2 (7%) progressive disease (PD). Patients with PD were not operated upon. A total of 24 patients (80%) had optimal cytoreduction (R p1 cm), of whom 22 (92%) were without residual tumour. Four patients were considered inoperable and were excluded from further analysis. The median progression-free survival and overall survival times were 13 and 23 months, respectively. Histopathological features of chemoresponse in both uterus and omentum were related to a better PFS (P ¼ 0.017, hazard ratio (HR) ¼ 0.785) and overall survival (P ¼ 0.014, HR ¼ 0.707). In particular, the absence of tumour infiltration and necrosis were associated with prognosis. CONCLUSION: The use of NACT resulted in a high rate (80%) of optimal IDS for the treatment of endometrial cancer with transperitoneal spread.
High resolution karyotype in the father and mother were normal. In the father, a deletion in chromosome 22ql 1 was detected by means of FISH, using probe DO832.'FISH was performed on 164 interphase chorionic villus cell nuclei using probe D0832. One signal was detected in 120 (73%), two signals in two (1%), and 42 nuclei (25%) could not be analysed or produced no signal. Only a single analysable metaphase was present, showing a signal in only one of the chromosomes 22. Two control samples from fetuses with a normal karyotype, 100 nuclei each, were analysed in parallel and showed a single signal in 10% and 17%, two signals in 60% and 66%, and no signal in 30% and 17%.Ten additional, unrelated cases of Potter syndrome, caused by an isolated, severe urological malformation, were studied retrospectively by means of FISH, using probe D0832 on metaphase spreads from cultured fibroblasts. In none of these was a del(22ql 1) detectable. DiscussionThe index patient in this report had the Potter sequence, caused by unilateral renal agenesis and contralateral cystic renal dysplasia. The only associated malformation was the absence of the uterus and upper portion of the vagina, a condition known as the Von Mayer-
Idiopathic infantile arterial calcification was diagnosed in a 2 week old infant with failure to thrive associated with neurological, renal and cardiac signs. Therapy with diphosphonate resulted in a complete resolution of vascular calcifications. At the age of 2 years the child is doing well but requires medical treatment for arterial hypertension.
A case of idiopathic granulomatous mastitis mimicking breast carcinoma clinically and radiographically is reported with mammography, sonography and MR images.
Hyperreactio luteinalis is a rare condition in pregnancy that is caused by high β-human chorionic gonadotropin (β-hCG) levels or abnormal sensitivity of the β-hCG receptor. It is mostly seen in patients with trophoblastic disease, multiple pregnancy or after fertility treatment. We describe our imaging findings and management of a case of hyperreactio luteinalis diagnosed in a singleton spontaneously conceived pregnancy.A 28-year-old primigravida was referred to the gynecological ultrasound department of the University Hospitals, Leuven, for the evaluation of bilateral adnexal masses at 14 weeks' gestation. Her pregnancy had been spontaneously conceived and she had no personal or family history of ovarian, breast or colon cancer. There was no history of subfertility and the patient did not use any kind of medication. The adnexal masses were first visualized in a regional hospital when she presented to the emergency room with abdominal pain. Vaginal examination revealed large mobile bilateral masses that filled the pouch of Douglas.Transabdominal and transvaginal gray-scale and color Doppler ultrasound examination was performed using a GE Voluson E8 Expert scanner (4-8-MHz transabdominal transducer and 6-12-MHz transvaginal transducer (GE Healthcare Technologies, Milwaukee, WI, USA)). Large bilateral multilocular masses measuring 141 × 134 × 103 mm (volume, 1019 cm 3 ) in the left ovary and 127 × 120 × 87 mm (volume, 694 cm 3 ) in the right ovary were visualized. Both masses contained more than 10 locules with rather thick (>3 mm) septa and anechoic cyst fluid. The cyst wall was regular (Figure 1) and the color score was 3 (moderately vascularized) in both masses. The fetus was normal in size for gestational age and no structural abnormalities were visualized. There was a small quantity of free fluid in the pouch of Douglas (30 × 22 mm) but no ascites. Both ultrasound examination and an X-ray of the chest were negative for metastases and pleural effusion. Blood analysis showed no abnormalities but a raised level of serum CA-125 of 442 kU/L.Owing to the progressive growth and the size of the masses, reaching the level of the diaphragm, and the large number of locules, the masses were suspected to be mucinous borderline tumors of the intestinal type and the patient was referred for surgery. Surgery was performed at 18 weeks of gestation using a midline incision. The right mass reached the level of the liver and the left mass filled the entire paracolic area (Figure 2). There was no ascites and no macroscopic signs of metastases. A right adnexectomy was performed and, on frozen section, the intraoperative diagnosis was hyperreactio luteinalis (Figure 3). The left mass was punctured but left in situ. Postoperative recovery and the subsequent course of the pregnancy were uneventful. The patient had a spontaneous vaginal delivery of a 3800-g girl at 40 weeks. At 9 weeks' postpartum, the patient was asymptomatic and ultrasound examination showed that the left adnexa was normal and contained a hemorrhagic corpus lute...
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