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Objective: To determine trends in total prevalence of neural tube defects in South Australia during 1966-91, the impact of prenatal diagnosis on birth prevalence, and the effectiveness of prenatal screening for neural tube defects in 1986-91., Design: All births and terminations of pregnancy affected by neural tube defects and information on prenatal screening were ascertained from multiple sources including the South Australian perinatal and abortion statistics collections, birth defects register, and state maternal serum alpha fetoprotein screening programme., Setting: Southern Australia., Subjects: All 1058 births and terminations of pregnancy affected by neural tube defects in 1966-91., Main Outcome Measures: Total prevalence and birth prevalence of individual and all neural tube defects. The proportion of screened cases detected prenatally., Results: Total prevalence of neural tube defects during 1966-91 was 2.01/1000 births with no upward or downward trend. However, birth prevalence fell significantly (by 5.1% a year), with an 84% reduction from 2.29/1000 births in 1966 to 0.35/1000 in 1991 (relative risk = 0.16, 95% confidence interval 0.07 to 0.34). The fall was 96% for anencephaly and 82% for spina bifida. 85% of defects, both open and closed, were detected before 28 weeks' gestation in women screened by serum alpha fetoprotein or mid-trimester ultrasonography, or both, in 1986-91 (99.0% for anencephaly and 75.7% for spina bifida)., Conclusions: While the total prevalence of neural tube defects in South Australia remained stable, prenatal diagnosis and termination of pregnancy resulted in an 84% fall in birth prevalence during 1966-91. Screening detected over four fifths of cases in 1986-91.

In the last few years many investigators have reported the recurrence of primary IgA nephropathy (IgAN) or the presence of persistent microhaematuria and/or proteinuria in family members of patients with IgAN. Our study was undertaken to investigate the relevance of abnormalities in the regulation of the IgA and IgM immune system in microhaematuric and asymptomatic family members of IgAN patients. Fifty-four out of 120 members of nine unrelated pedigrees were examined by urinalysis; polymeric IgA (pIgA), IgA rheumatoid factor (IgARF), IgA1-IgG immune complexes (IgA 1-IgG IC) and IgA 1-IgM IC, and other immunoglobulins were measured in serum samples. Moreover, we studied the production of immunoglobulins, pIgA and IgARF by peripheral blood mononuclear cells (PBMC) in basal conditions and after pokeweed mitogen (PWM) stimulation. Our data demonstrate that persistent microhaematuria was present in 24% of relatives. High serum levels of IgA, mainly pIgA and IgARF, IgA 1-IgG IC and IgA 1-IgM IC occurred in 66% of relatives. Abnormal spontaneous production of IgA by PBMC and after PWM stimulation was present in 64% of family members. Interestingly, high serum levels of IgM and abnormal production of this immunoglobulin by PBMC were observed in relatives. However, the immunological abnormalities did not correlate in any way with the presence of urinary abnormalities such as microhaematuria, which was most likely determined by an underlying glomerular alteration.

A coated microtiter-well, enzyme-linked immunometric assay for quantifying immunoreactive trypsinogen in dried blood spots was modified to use time-resolved fluorescence of europium in place of end-point enzymatic color development as the quantification step. The streptavidin-horseradish peroxidase and color development solutions supplied as packaged reagents were replaced by europium-labeled avidin, and the signal was developed with commercially available enhancement solution and read by time-resolved fluorescence. The change of label from enzyme to europium increased the dynamic range of the assay by about 5-fold, reduced the detection limit 10-fold, and halved the intra- and interassay imprecision. The improved analytical precision and stability of the modified assay resulted in a more precise description of the population distribution of immunoreactive trypsinogen values in newborns, showing less variance in the upper centiles. This effect is of paramount importance when using this assay for neonatal screening for cystic fibrosis.

The feasibility of extending second-trimester maternal blood screening for Down syndrome so as to include screening for trisomy 18 was examined using stored maternal serum samples collected for neural tube-defect screening. There were 12 samples from trisomy 18 pregnancies and 390 controls. The median maternal serum concentration of alpha-fetoprotein, free alpha-subunit human chorionic gonadotrophin, free beta-subunit human chorionic gonadotrophin, intact human chorionic gonadotrophin, total estriol, unconjugated estriol, estradiol, human placental lactogen, and progesterone were lowered in those pregnancies affected by trisomy 18 when compared with unaffected pregnancies matched for racial origin, maternal age, gestational age, and sample-storage duration. At an estimated odds risk of 1:400, 83.3% of affected pregnancies were detected using an algorithm which combines the maternal age-related risk with the maternal serum concentrations of unconjugated estriol, free alpha-subunit human chorionic gonadotrophin, free beta-subunit human chorionic gonadotrophin, estradiol, and human placental lactogen. The associated false-positive rate was 2.6%. At high risk odds of 1:10, the detection rate was 58.3%, with an associated false-positive rate of 0.3%. beta-Subunit human chorionic gonadotrophin and unconjugated estriol were the most powerful discriminators. It is possible to incorporate into existing Down syndrome screening programs an algorithm for detecting trisomy 18 with high sensitivity and specificity.

129 patients, who had oral cavity or oropharyngeal carcinoma underwent excision with intraoperative histopathologic examination. Thanks to this method, the number of satisfying resections has increased from 25% to 75%. Whatever the quality of the surgical excision may be, postoperative radiotherapy improves the prognosis.

There is now more or less general agreement how to classify and how to work out the development of symmetrical malformations of the female genital tract. On the other hand, asymmetrical malformations, as well as abnormalities of the development of the cervix and the isthmus are only rarely written about in the literature. It has not yet been possible to draw up a system to display the physiopathology and the embryology of these malformations. We here report a rare case of atresia of the cervix and isthmus as well as a pseudo unicornous uterus. This case should take its place as a piece in the embryological puzzle helping to fill in the details which might one day solve this puzzle.

The authors report their experience with follow-up cytohistological examination of subclinical thoracic lesions in oncology by transparietal puncture with CAT-scanning localization in 170 patients. They detail a few special points concerning the material used and their techniques, in view of reducing the most common incidents and of managing the most severe complications. They analyze their results in two groups of patients, one investigated in a context of known malignancy and the other, with no history of malignancy in whom bronchoscopy, bronchial lavage and brushing were negative. They found an overall sensitivity and specificity of 86% and 100%, respectively, in the diagnosis of malignant disease. The method showed an efficacy of 83.5%. For the two populations, sensitivity was 84% and 87% respectively, and efficacy was 82 and 85% respectively. Thus, the results were better in the patients who had never received anticancer therapy. They also observed significant differences depending on whether the targets were mediastinal, pleuropulmonary or parietal. While the rapid diagnostic information appears invaluable in both groups of patients, in contrast, the small volume of the specimens, which may be hemorrhagic, necrotic, with more or less extensive fibrosis of the stroma, and the immaturity of certain tumors, sometimes make it impossible for the pathologist to give a precise diagnosis of the tumor other than the benign or malignant structural character of the lesion. This represents a significant obstacle in hematology for affections which, although non surgical, nevertheless require precise identification of the lesion for effective therapy. The elaboration of more effective sampling material, repeated punctures and immunohistoenzymatic analysis techniques would probably further improve the results of the method.

Between May 1978 and March 1982, 179 postmenopausal women with operable breast cancer were randomized to receive either adjuvant tamoxifen, 40 mg daily for three years (TAM group), or no further treatment (controls). The difference in five-year survival rates (61% in the control group, 72% in the TAM group) was not statistically significant. However, there was a significant improvement in disease-free survival in the TAM group (61%) relative to the controls (44%) (p = 0.008). In estrogen receptor positive patients, tamoxifen improved both the disease-free rate (47% controls, 80% with tamoxifen) and the survival rate (63% to 83%). Similar results were observed in progesterone receptor positive patients. In patients that were estrogen receptor negative, tamoxifen modified neither the survival rate nor the disease-free interval.

9-hydroxy-2-methyl-ellipticinium (HME) is an intercaling agent mainly potent in metastatic breast cancer. Its almost complete lack of bone marrow toxicity is of greatest value. However, among 385 patients 20 cases of renal failure were observed: renal failure is gradual, non reversible except in four cases with acute renal failure. Histological and ultrastructural studies, performed in 8 cases, showed exclusively proximal tubular lesions, without glomerular or interstitial lesions. We have evidence that there is a relation between the cumulative dose and the severity of the lesions. A prospective study was done in 30 patients. An increase in enzymuria, proteinuria and glycosuria was observed in most patients after HME infusion. HME is an efficient drug in the treatment of bone metastases of breast cancer. Renal function should be carefully monitored during HME administration.

In a period of 18 months, 187 cytology aspiration biopsies of the breast were performed at the Centre François Baclesse by clinicians and radiologists, using the conventional technique. Comparison of the results with clinical, radiological and histological findings by different specialists showed that one out of two aspiration biopsies gave an erroneous diagnosis. The authors believe that this failure was due to the fact that the biopsies were not performed by a cytologist. This prime condition of success should be more clearly expressed in the literature.

The case reported is that of a young woman who underwent a termino-terminal jejno-ileal by-pass procedure for obesity which was refactory to usual forms of treatment. Eight months later, a cholecystectomy was carried out for lithiasis, presenting with abdominal pain. At the time of operation, lesions of cystic pneumatosis were discovered on the excluded length of small bowel. This complication frequently manifests itself in the form of pseudosurgical abdominal pain, or as diarrhoea. More rarly, it is a radiological finding. The pathogenesis remains a subject of discussion. The mechanical theory would seem the most logical, since colonic intraluminal pressure is higher than that in the intestine excluded from the circuit. Bacterial proliferation, classical in blind loops, would be a farourising factor.

No new general review has appeared concerning the malignant changes that can occur in dermoid cysts of the ovary since the works of Peterson in 1957 and Climie and Heath in 1968. A personal case of epidermoid carcinoma--Stage II B--which occurred in a dermoid cyst gave us the opportunity of reviewing the 132 cases published between 1968 and 1985, which bring the total cases published to more than 400. The cancer arises in 1.78% of mature cystic teratomas. The mean age at diagnosis is 53 years and this pathological change is found five times more frequently after than before the menopause. Before laparotomy is carried out there is no clinical sign nor paraclinical evidence of the diagnosis over and above that of a benign cyst. There are all kinds of histological changes but the epidermoid carcinomas occur in 75% of cases. The survival rate for this kind of ovarian tumour is very poor, with 27% survival after 3 years, taking into account all states and all histological types. Epidermoid carcinomas seem to have a better prognosis than other histological types, and an important prognostic feature is the spread and the ability to remove the tumour surgically when it has extended beyond the capsule of the ovary. Although it is not easy to lay down the best therapy for this condition, by and large extended surgery followed by polychemotherapy or radiotherapy are apparently the only ways of improving the poor prognosis for these tumours.