[Imperforate hymen; importance of inspection of the external genitalia]. / Hymen imperforatus; het belang van inspectie van de genitalia externa.

Three women aged 17, 12 and 13 years presented with intermittent abdominal pain. Secondary sexual characteristics, i.e. mammae and pubic hair, were developed, but menarche had not occurred. All were found to have imperforate hymen. After incision, the symptoms disappeared. Imperforate hymen causes clinical symptoms from the time of menarche. Pubertal girls presenting with abdominal symptoms must be examined, including observation of secondary sexual characteristics and inspection of the external genitalia. This examination is often omitted because the patient and the physician are embarrassed. However, it is essential and should be carried out in a considerate manner. Excision of the hymen must be performed under general anaesthesia using a technique that will prevent secondary stenosis.

CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer.

OBJECTIVES: The main objective of screening is to identify cases of ovarian cancer in early stages. However, screening of women in the general population is ineffective due to a failure of detecting early-stage disease and high false positive rates of CA125 and transvaginal ultrasound (TVU) monitoring. The purpose of this study is to evaluate ovarian cancer screening by means of pelvic examination, serum CA125 and TVU in a consecutive series of high-risk women. METHODS: Clinical data were collected from 132 BRCA1, 20 BRCA2 germ line mutation carriers, 72 members of hereditary breast and ovarian cancer (HBOC) families and 88 breast cancer patients from a hereditary breast cancer (HBC) family, seen between January 1996 and December 2002. RESULTS: Among 10 women with an elevated CA125 level and a positive TVU, three screening carcinomas (one FIGO stage IC, one stage IIIB and one stage IV) and one interval carcinoma (stage IV) were detected. Five occult ovarian/fallopian tube carcinomas (two stage IA, one stage IC, one stage IIIB and one stage IV) after bilateral prophylactic (salpingo-) oophorectomy (BP(S)O) have been found in 152 women. The sensitivity, specificity, positive and negative predictive values (PPV and NPV) of the combination of CA125 and TVU were the highest (40%, 99%, 40% and 99%) followed by CA125 alone (50%, 96%, 13% and 99%), pelvic exam (40%, 98%, 21% and 99%) and TVU, separately (40%, 90%, 6% and 99%). CONCLUSION: By combining CA125 with TVU results, a PPV of 40% was achieved. However, the diagnostic tools appear to be only sensitive in detecting ovarian cancer at an advanced stage, while three of four tumors with early-stage disease in this series had normal screening tests prior to the diagnosis.

[Adhesions of the labia minora in three young girls]. / Adhesies van de labia minora bij 3 jonge meisjes.

Three girls, 2, 5 and 6 years of age, had labial adhesions: one without complaints but whose mother was anxious about abnormal anatomy of the external genitalia, one with urinary problems because of pooling of the urine in the almost completely covered vagina, relapsing after surgical intervention, and one with irregular adhesions because of sexual abuse. In all three, after (repeated) application of oestrogen cream the adhesions reduced or disappeared. Adhesions of the labia minora can often be noticed under the age of 8 years and dissolve after that age during the period of progressive natural oestrogen production. Therapy consists of application of oestrogen cream on the contact surface of the labia minora. Surgical treatment is disputable and causes a high recurrence, probably higher than conservative treatment.

Termination of quiescence in crustacea. The role of transfer RNA aminoacylation in the brine shrimp Artemia.

In quiescent embryos of the brine shrimp Artemia, the level of aminoacylation of transfer RNAs is low. During resumption of development the charging level of transfer RNAs increases, concomitant with the activation of protein synthesis. The total level of charging rises dramatically from an average of 4% to 50% within a period of 24 h of development. The restriction of in vitro translation of the quiescent embryo extract can be partially released by the addition of charged aminoacyl-tRNA, which apparently starts the flow of ribosomes into polyribosome structures. Complete reactivation of translation by aminoacyl-tRNA occurs when mRNA from preformed mRNA-ribosome complexes, like the polyribosomes extracted from developing embryos or poly(U)-programmed ribosomes, are offered to quiescent embryo extracts. With respect to the mechanism of in vivo recharging of tRNAs, we observed that the level of several aminoacyl-tRNA synthetases increase during development. Methionyl-tRNA synthetase rises more than 10-fold. In the case of valyl-tRNA synthetase, the activation is lower and shown to be due to the de novo synthesis of its mRNA and the corresponding protein product as well. We conclude that protein synthesis and thereby the gradual animation of cryptobiotic Artemia embryos is determined to a large extent by the rate by which aminoacyl-tRNAs are replenished during development at both the initiation and elongation level.

[Jan Steen's fire pot; pregnancy test or gynecological therapeutic method in the 17th century?]. / Het veterpotje van Jan Steen; zwangerschapstest of gynaecologisch therapeuticum in de 17e eeuw?

The doctor's visit is a frequently used subject in paintings from the 17th century. Jan Steen made several paintings in this genre. He always used as a medical attribute a fire pot with a burning lace. This lace can be explained as a diagnostic tool for pregnancy, as a medium to bring round a fainting woman--or (and most probably) as a scent therapy for a wandering womb. This therapy originates from the Egyptians and antique Greek doctors.

Immunofluorescence studies of human fibroblasts demonstrate the presence of the complex of elongation factor-1 beta gamma delta in the endoplasmic reticulum.

The eukaryotic elongation factor-1 (EF-1) consists of four subunits, EF-1 alpha, EF-1 beta, EF-1 gamma and EF-1 delta which induce efficient transfer of aminoacyl-tRNA to the ribosome. In this process EF-1 alpha.GTP acts as the carrier of the aminoacyl-tRNA on its way to the ribosome. After release of aminoacyl-tRNA to the ribosome under concomitant hydrolysis of GTP, the inactive EF-1 alpha.GDP form is recycled to EF-1 alpha.GTP by EF-1 beta gamma delta. In eukaryotic cells the concentration of EF-1 alpha exceeds that of the complex beta gamma delta by a factor of 5-10. In order to delineate the intracellular localization of the different subunits of EF-1, antibodies against the EF-1 subunits have been elicited and indirect immunofluorescence microscopy experiments were performed. In human fibroblasts, the guanine nucleotide exchange part of EF-1, EF-1 beta gamma delta, was found to co-localize with the endoplasmic reticulum (ER), displaying a distinct fine-structure in its staining pattern. The guanine nucleotide-binding subunit of EF-1, EF-1 alpha, shows a more diffuse distribution throughout the cytoplasm and is, in addition, associated with the nucleus.

Valyl-tRNA synthetase from Artemia. Purification and association with elongation factor 1.

Two components of the protein biosynthetic machinery, valyl-transfer RNA synthetase (VRS) and elongation factor 1 (EF-1), have been isolated as a complex from several mammalian tissues. However, yeast VRS, which lacks an amino-terminal extension, does not associated with EF-1. We purified VRS from the brine shrimp Artemia and investigated its interaction with EF-1. Western blotting of crude Artemia extracts revealed the presence of two forms of VRS, differing in size and capacity to associate with EF-1. About 80% of the total VRS corresponds to a polypeptide of 130 kDa which behaves as a monomer upon gel filtration. Only the larger form of 140 kDa coelutes, cosediments and co-immunoprecipitates with the EF-1 alpha 2 beta gamma delta complex. The ratio of the two forms of VRS remains constant throughout early development. The possible origin and mode of expression of the two forms of VRS present in Artemia are discussed.

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.

In addition to the lysosomal glucocerebrosidase, a distinct beta-glucosidase that is also active towards glucosylceramide could be demonstrated in various human tissues and cell types. Subcellular fractionation analysis revealed that the hitherto undescribed glucocerebrosidase is not located in lysosomes but in compartments with a considerably lower density. The non-lysosomal glucocerebrosidase differed in several respects from lysosomal glucocerebrosidase. The non-lysosomal isoenzyme proved to be tightly membrane-bound, whereas lysosomal glucocerebrosidase is weakly membrane-associated. The pH optimum of the non-lysosomal isoenzyme is less acidic than that of lysosomal glucocerebrosidase. Non-lysosomal glucocerebrosidase, in contrast to the lysosomal isoenzyme, was not inhibited by low concentrations of conduritol B-epoxide, was markedly inhibited by taurocholate, was not stimulated in activity by the lysosomal activator protein saposin C, and was not deficient in patients with Gaucher disease. Non-lysosomal glucocerebrosidase proved to be less sensitive to inhibition by castanospermine or deoxynojirimycin but more sensitive to inhibition by D-gluconolactone than the lysosomal glucocerebrosidase. The physiological function of this second, non-lysosomal, glucocerebrosidase is as yet unknown.

Immature delivery after intrauterine Candida albicans infection.

The case is presented of a patient who delivered an immature infant after an intrauterine candidial infection in the presence of an intrauterine contraceptive device (IUD). 8 other cases of intrauterine Candida infection leading to immature deliveries were gathered from the literature. On the basis of the pathologic findings, the medium of infection is thought to be the amniotic fluid.