[18-year-old woman with an ovarian tumour detected by coincidence]. / 18-jährige Frau mit zufällig entdecktem Ovarialtumor.

Massive ovarian edema (MOE) is a rare, benign disease of young women. Because preoperatively in most cases the differential diagnosis primarily appears to indicate the presence of a malignant tumour, there is a risk that these patients will be subjected to unnecessary overtreatment. In the case of the 18-year-old patient described here, on the basis of the preoperative data the suspected clinical diagnosis was polycystic ovarian (PCO) syndrome. In the MRI the enlarged ovary was interpreted as a mucous tumour. The laparotomy showed a smooth-walled, opalescent ovarian tumour with adnexal torsion. Histopathological examination of the adnexectomy specimen gave the diagnosis of a massive ovarian edema (MOE). Therapeutically, a wedge-shaped excision, immediate-section histology and derotation and suspension of the ovary would have been sufficient. Unnecessary overtreatment can be avoided in young women with enlarged ovaries, if MOE is included in the differential diagnosis and if the characteristic sonography, MRI and macroscopy findings are known.

Prognostic significance of CA 125 and TPS levels after 3 chemotherapy courses in ovarian cancer patients.

OBJECTIVE: To evaluate the prognostic significance of and predictive value for survival of CA 125 and TPS levels after three chemotherapy courses in ovarian cancer patients. METHODS: We analyzed in a prospective multicenter study the 1- and 2-year overall survival (OS) in ovarian carcinoma patients. The prognostic significance of CA 125 and TPS levels above the discrimination value (25 kU/L and 100 U/L, respectively) was examined by univariate and multivariate analyses. RESULTS: Of the 213 cases included, 64 patients were staged as FIGO I + II and 149 patients were staged as FIGO III + IV. Tumor marker levels in stage I + II were not correlated with survival. However, stage III and IV patients with elevated levels of CA 125 or TPS after three chemotherapy courses had a worse 2-year OS (69% vs 26%, P < 0.0001 and 57% vs 20%, P < 0.0001, respectively) than patients with normal levels of the markers. In univariate analysis the result of operation (staging laparatomy and partial debulking) and advanced FIGO stage (IV) were also adverse prognostic factors. Independent factors predictive of low 2-year OS by multivariate analysis were staging laparotomy, TPS elevated, and CA 125 elevated. The only factors predictive of low 1-year OS were TPS elevated and staging laparotomy. CONCLUSIONS: Ovarian cancer patients with elevated CA 125 levels after three chemotherapy courses have a poor prognosis. However, the prognostic accuracy can be significantly increased by the parallel determination of serum TPS.

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.

Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of variable severity with recurrent respiratory tract infections leading to bronchiectasis and male subfertility. Ultrastructural defects are present in ciliated mucosa and spermatozoa. Situs inversus (SI) is found in about half of the patients (Kartagener syndrome). We have collected samples from 61 European and North American families with PCD. A genome-wide linkage search was performed in 31 multiplex families (169 individuals including 70 affecteds) using 188 evenly spaced (19cM average interval) polymorphic markers. Both parametric (recessive model) and non-parametric (identity by descent allele sharing) linkage analyses were used. No major locus for the majority of the families was identified, although the sample was powerful enough to detect linkage if 40% of the families were linked to one locus. These results strongly suggest extensive locus heterogeneity. Potential genomic regions harbouring PCD loci were localised on chromosomes 3p, 4q, 5p, 7p, 8q, 10p, 11q, 13q, 15q, 16p, 17q and 19q. Linkage analysis using PCD families with a dynein arm deficiency provided 'suggestive' evidence for linkage to chromosomal regions 8q, 16pter, while analyses using only PCD families with situs inversus resulted in 'suggestive' scores for chromosomes 8q, and 19q.

Serum levels of CA 125 and TPS during treatment of ovarian cancer.

Two hundred and sixty ovarian cancer patients (including all FIGO stages) were enrolled in a prospective multicentre study. In this interim study we analyzed 206 patients receiving combined chemotherapy for at least 3 courses for two-year overall survival (OS). CA 125 and TPS were applied for monitoring treatment and the relationship between marker levels, marker changes and clinical assessments was established. Preoperative CA 125 or TPS levels were not correlated with OS in FIGO stage I and II patients. After 3 chemotherapy courses the marker levels were not correlated with OS in stage I and II. Partial debulking in stage II patients was a bad prognostic factor. CA 125 or TPS levels (using a CA 125 discrimination level of 25 kU/l and a TPS discrimination level of 100 U/l) after 3 courses of chemotherapy were highly significantly correlated with OS in FIGO stages III and IV patients: CA 125 two-year OS 67% versus 26% (p < 0.0001) and TPS two-year OS 55% versus 22% (p < 0.0001). The prognostic value of CA 125 levels after 3 chemotherapy courses could be further increased by combining CA 125 and TPS levels. When both CA 125 and TPS levels were below their respective discrimination levels, the two-year overall survival was 75%. When both levels were above the discrimination level, the two-year overall survival was only 17%.

Prognostic significance of CA 125 and TPS levels after chemotherapy in ovarian cancer patients.

The analysis of survival data of patients with epithelial ovarian cancer proved that both CA 125 and TPS were good markers for clinical outcome prediction. Patients receiving chemotherapy were analyzed for 2-year overall survival (OS). Kaplan-Meier survival analysis showed highly significant differences in OS between patients with stage I+II (survival for 2 years 68%) and stage III+IV (survival for 2 years 33%; p = 0.0008). CA 125 levels above or below 35 kU/I and TPS levels above or below 80 U/l after 3 chemotherapy courses were not significantly correlated with OS in stage I+II patients (p = 0.06 respectively 0.07). However, in the subgroup of patients with stage III+IV the cut-off levels of CA 125 and TPS were excellent discriminators of OS: With CA 125 levels below the cut-off 52% of the patients survived, while with CA 125 levels above the cut-off only 13% survived (p < 0.0001). With TPS levels below the cut-off 49% of the patients survived, while with levels above the cut-off only 19% of the patients survived (p < 0.0001). In the subset of patients with CA 125 levels less than 35 kU/I after 3 chemotherapy courses (n = 50) analysis of their TPS levels allowed further discrimination of the prognostic significance. With TPS levels below the cut-off 63% of the patients survived, while 35% of the patients survived with TPS levels above the cut-off. The sum value of CA 125 and TPS cut-off values (115) as discriminator correlated even better with survival rate: With levels below this sum value 63% of the patients survived, while this was only 17% with sum values above the summed cut-off level (p = 0.0004). The extent to which the tumor was removed at operation also correlated with the 2 years survival rate. None of the patients with a staging laparotomy (n = 10) showed a 2-years survival. The difference in OS between patients with complete debulking and partial debulking was significant: OS 51% versus 23% (p = 0.027). Prognosis was not significantly correlated with histological type.

[Primary ciliary dyskinesia in situs inversus without bronchiectasis]. / Primäre ziliäre Dyskinesie mit Situs inversus ohne Bronchiektasen.

BACKGROUND: In adults suffering from Kartagener's syndrome-which is found in 50% of patients with primary ciliary dyskinesia (PCD)-bronchiectasis is still one of three typical clinical features. In this condition it is caused by chronic bacterial inflammation as a result of impaired mucociliary clearance in congenital ciliary dysfunction. Little information is available on the incidence, age-related development and prophylactic therapy of bronchiectasis in children suffering from PCD. CASE REPORT/RESULTS: We describe the case of a 2-year old boy with clinical features of Kartagener's syndrome who showed impaired ciliary motility and typical ultrastructural defects of PCD. Bronchiectasis was excluded by bronchography. CONCLUSIONS: The diagnosis of PCD implies disturbed ciliary motility and abnormal ultrastructure of the cilia. In 50% of cases PCD is associated with situs inversus and is then referred to as kartagener's syndrome, whereas situs inversus itself does not define Kartagener's syndrome. Bronchiectasis is not necessarily present in children with PCD. Physiotherapy, inhalations, vaccinations and early antibiotic treatment may be of prophylactic value in preventing bronchiectasis. Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria.

[Primary ciliary dyskinesia, immotile cilia syndrome, and Kartagener syndrome: diagnostic criteria]. / Primäre ziliäre Dyskinesie, "immotile-cilia syndrome" und Kartagener-Syndrom: diagnostische Kriterien.

Primary ciliary dyskinesia is the generic term for a heterogeneous group of inherited diseases in which ciliary ultrastructure is defective and as a consequence ciliary motility is disturbed. An international consensus on the diagnostic criteria has not yet been reached. This paper reviews some recent findings which are useful in the diagnosis of the disease and attempts to establish the best diagnostic criteria. The marker symptoms are chronic bronchitis, otitis, and sinusitis since childhood. Additionally, one or more of the following criteria must be present: Kartagener syndrome, a dextrocardia situation, markedly reduced frequency in ciliary motility, or an essential ultrastructure deviation in more than 20% of the square cuts (e.g. reduced number of dynein arms). Biopsy of the ciliated mucosa is usually required for the above criteria and is studied by vital microscopy and transmission electron microscopy. Primary and secondary ciliary dyskinesia can be distinguished by these methods and the rare case of PCD without ultrastructure deficiency ruled out. In special cases a cell culture is recommended for the diagnosis. Practical aspects of the sampling methods and diagnostic pitfalls are reviewed.