Severe ovarian dysgenesis and enlarged dysplastic kidneys in two siblings with normal karyotypes.

OBJECTIVE: To report a rare case of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and enlarged dysplastic kidneys. DESIGN: Case report. Rabin Medical Center, a major tertiary university-affiliated care and referral facility. PATIENT(S): A healthy 30-31-year-old woman underwent termination of two pregnancies at 22 and 23 gestational weeks because of ultrasonographic observations of enlarged kidneys in both fetuses. INTERVENTION(S): Prostaglandin-induced pregnancy terminations with feticide. MAIN OUTCOME MEASURE(S): Light microscopy observations. RESULT(S): Both siblings had a 46,XX karyotype, and the maternal alpha-fetoprotein level was within normal limits. In the first, no ovaries were identified, and in the second, bilateral streak ovaries devoid of ova were noted. In both cases, pathological examinations identified large dysplastic kidneys, with dysplastic changes in certain medullary areas. Apart from the kidneys and ovaries, all other organs were normal. CONCLUSION(S): To the best of our knowledge, this is the first report of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and renal abnormalities but without any other malformations.

[Epulis during pregnancy].

Epulis is a hyperplastic lesion, which originates from the buccal mucosa and mainly from gingival tissues. It is characterised by several histologic types, of which the prevalent type during pregnancy is the granulomatous type, which is composed mainly of capillary vessels and endothelial proliferation. This lesion is referred to as "pregnancy tumor". The true prevalence of this lesion during pregnancy is unknown, though its peak incidence is during the third decade of life--compatible with pregnancy age. Furthermore, epulis is more prevalent among women than men (1:4-7). Normally, epulis appear on the frontal part of the maxilla during the third trimester. The lesion usually causes no symptoms apart from its very presence. Etiologic factors are improper maintenance of oral hygiene which lead to chronic gingivitis and high gingival levels of active progesterone which acts in a yet unindefined mechanism. Treatment includes firstly removal of irritating factors and secondly surgical conservative excision of the lesion.

Preliminary studies on apoptosis in human fetal ovaries.

OBJECTIVE: To evaluate if apoptosis occurs in human germ cells between 19 and 33 gestational weeks (GW). DESIGN: Human fetal ovaries were obtained from aborted fetuses aged 19-33 GW. SETTING: Rabin Medical Center, a major tertiary care and referral center. PATIENT(S): Twenty-seven women undergoing pregnancy termination. The abortions were mostly because of fetal anatomical or chromosomal abnormalities. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Microscopy studies, terminal deoxynucleotidyl transferase (TdT) assay (TUNEL), and immunocytochemistry for B-cell lymphoma/leukemia-2 (bcl-2). RESULT(S): TUNEL assay revealed a slight increase in apoptotic oocytes in fetuses from 23 GW, with a peak at 27 GW. Overexpression of bcl-2 was detected in all ovarian components, regardless of fetal age. CONCLUSION(S): There seems to be a slight increase in apoptosis in oocytes from 23 GW with a peak at 27 GW. However, it is very unlikely that these low apoptotic rates could be the cause of the extensive germ cell loss throughout human pregnancy. The overexpression of bcl-2 possibly suggests either that this gene is necessary to overcome extensive apoptotic activity or that it is responsible for the low apoptosis rates. However, these results should be considered with caution, since the ovaries were mostly from abnormal fetuses after feticide.

Tc99m macroaggregated albumin cisternography for the detection of persistent cerebrospinal fluid (CSF) leak in an animal model.

The present study describes a new in vivo animal model that enables the detection of cerebrospinal fluid (CSF) leakage after dural injury. A polyethylene catheter (PE 10) was inserted into the subarachnoid space in the lumbar area by a simple surgical procedure and a radioactive isotope Tc99m Macroaggregated Albumin (Tc99m MAA) was injected into the CSF. In the experimental group, a standardised dural puncture was performed in the cervical area. The accumulation of the isotope in the gauze placed over the dural puncture and viewed by a gamma camera as a spot of concentrated radioactivity, was indicative of CSF leakage. In a second group of animals with intact cervical dura the absence of leakage was presented as a picture of sporadic background radioactivity. To demonstrate the effectiveness of the model in detection of invisible leakage, blood was applied over the cervical dural defect in another group of animals and CSF leakage was assessed by the above mentioned isotope detection method. This in vivo model may be used for evaluation of the sealing properties of various materials under physiological and metabolic processes in living tissue.