Standardization of the surgical technique in breast-conserving treatment of mammary cancer

A number of designations--for example excision, wide excision, lumpectomy, tylectomy, extended tylectomy, partial mastectomy, tumorectomy, segmental resection and quadrantectomy--have been applied to operative procedures aimed at treating mammary carcinoma with preservation of the breast. None of them, however, has been explicitly linked to a defined surgical technique and there is no consensus about the terminology. We propose a simple classification system for breast-conserving procedures, which can facilitate the communication between surgeons and the interpretation and exchange of scientific data. We also describe a strictly defined and locally radical partial mastectomy--a sector resection--which has been used at several centres in Sweden for more than 5 years with a favourable outcome so far in terms of local tumour control and the cosmetic result.     

Failure to detect early breast cancer using in vitro nuclear magnetic resonance spectroscopy of plasma.

Water suppressed proton nuclear magnetic resonance (1H NMR) spectroscopy of human plasma has been described as successful in detection of malignancy. We designed a prospective study to test the hypothesis that in vitro NMR spectroscopy has a high sensitivity for detecting early breast cancer. One hundred and thirty-five women were referred for breast biopsy due to abnormal mammograms. One hundred of these were recruited through a population-based mammography screening project. Sixty-nine of 135 women were found to have breast cancer and their average line width of the methyl and methylene resonance in the plasma were compared to those women who had a benign or normal histopathology in the biopsy and to the line width for 100 healthy subjects from the same population. The mean line width at a half-height of the methyl and methylene resonances of the serum lipoprotein lipids in the NMR spectrum did not differ appreciably between the groups. The line width correlated highly with the serum triglycerides, but correction for the level of triglycerides did not improve the diagnostic accuracy of the line width. Receiver-operating characteristic analysis revealed a sensitivity of 61% and a false positive rate of 43% at the most beneficial cut-off of line width (39.7 Hz). In vitro NMR spectroscopy in our hands was thus not a useful diagnostic tool in patients with early breast cancer.     

A case report on a patient suffering from recurrent vomiting episodes, whose condition improved markedly during pregnancy and breast feeding

Background  

The normal physiology of the gastrointestinal tract has been only cursorily examined. Consequently, the pathophysiology of disturbances of the gastrointestinal functions is poorly known. Recurrent vomiting is one of many functional conditions for which it is difficult to find an explanation and to treat. In the following a case is described of a patient presenting with recurrent vomiting episodes, whose condition improved spontaneously during pregnancy and breast feeding.     

Experiences of pain and distress in hip fracture patients

The aims were to investigate: (1) experiences of physical pain in elderly patients with hip fracture; (2) if background variables, confusion, experiences of pain and distress and interventions aimed at reducing pain and distress, functional ability, pain in the ambulance, and type of fracture varied between patients with more intense physical pain and patients with less intense physical pain. The sample included 49 patients, 70 years or older, with hip fracture. Structured instruments were used to interview and observe the patients on four occasions during the hospital stay. The patients’ experiences of physical pain decreased during the hospital stay. Physical pain at rest was lower than pain with movement. Patients who scored physical pain as more intense (group B) during the visit to the hospital had significantly more unfavourable experiences in the sensory, emotional, and existential dimensions the day before discharge from the hospital compared with the patients who scored pain as less intense (group A). The patients in group B perceived the interventions as less favourable than group A. Furthermore, group B had more intense physical pain in the ambulance than the patients in the other group. More patients in group B than in group A had additional health problems.     

Cardiovascular malformations, work attendance, and occupational exposures during pregnancy in Finland

To explore for associations between occupational factors and cardiovascular malformations, information on the parents of 160 infants with cardiovascular malformations and 160 control parents was studied. The case infants had been reported consecutively to the Finnish Register of Congenital Malformations. All mothers were interviewed identically after delivery, using both open and pro forma questions about detailed work tasks, exposures, and leisure activities during pregnancy. The interview information was evaluated blindly. Neither parental occupational titles nor maternal working per se gave new clues to the teratogenic risk; nor did shift working, wearing of personal protective equipment, or the mother's own opinion on exposures during pregnancy. Identified occupational exposures, as categorized by an industrial hygienist, showed no remarkable associations to cardiovascular malformations. Few mothers were exposed substantially to specific occupational hazards. Comparing mothers who used medications in the first trimester with those who did not showed an odds ratio of 2.2 (95% confidence interval 1.3-3.9) when adjusted for potential confounding by multivariate logistic methods.     

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in the cerebral cortex to 60% in the inferior olive. In addition, we also observed cytoplasmic staining using the 1C2 antibody, particularly in the supramarginal gyrus, the hippocampus, the thalamus, the lateral geniculate body and the pontine nuclei. These data confirm that the presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.      

Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17)

Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15 approximately p21;q12 approximately q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. Two tumors had aberrations that included structural changes of chromosome arms 6p and 7p. Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features.     

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic techniques, Spectral karyotyping (SKY), and FISH failed to detect abnormalities. We performed a high resolution genome-wide screening for submicroscopic chromosomal rearrangements using array-CGH on 41 children with idiopathic mental retardation (MR) and dysmorphic features. The commercially available microarray from Spectral Genomics contained 2600 BAC clones spaced at approximately 1 Mb intervals across the genome. Standard chromosome analysis (>450 bands per haploid genome) revealed no chromosomal rearrangements. In addition, multi-subtelomeric FISH screening in 30 cases and SKY in 11 patients did not detect any abnormality. Using array-CGH we detected chromosomal imbalances in four patients (9.8%) ranging in size from 2 to 14 Mb. Large scale copy number variations were frequently observed. Array-CGH has become an important tool for the detection of chromosome aberrations and has the potential to identify genes involved in developmental delay and dysmorphism. Moreover, the detection of genomic imbalances of clinical significance will increase knowledge of the human genome by performing genotype-phenotype correlation.     

Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a multicolor and locus-specific fluorescence in situ hybridization study

Trisomy 8 is the most common chromosomal aberration in myelocytic malignancies, occurring both as a sole change as well as in addition to other abnormalities. In spite of this, next to nothing is known about its pathogenetic importance or its molecular genetic consequences. Possible mechanisms involved in the transformation process include dosage effects of genes mapping to chromosome 8 and presence of specific mutations or cryptic fusion genes on the duplicated chromosome. In the latter case, +8 would be secondary to a cryptic primary rearrangement and not involved in leukemogenesis as such, but rather in tumor evolution. Although hidden genetic changes have been found in some trisomies, for example, mutations in KIT in acute myelocytic leukemia (AML) with +4 and in MET in hereditary papillary kidney carcinoma with trisomy 7, none associated with +8 have so far been discovered. To address this issue, we have investigated a total of 13 cases of AML, myelodysplastic syndromes, and chronic myeloproliferative disorders with trisomy 8 as the sole chromosomal anomaly. All cases were studied by combined binary ratio multicolor fluorescence in situ hybridization (FISH) and with FISH using locus-specific probes for both arms of chromosome 8, the subtelomeric regions of 8p and 8q, and the leukemia-associated genes FGFR1, MOZ, ETO, and MYC. No cryptic changes were detected, thus excluding the possibility of gross genetic rearrangements or aberrations involving these loci on chromosome 8.     

Isolation and characterization of two European strains of Ehrlichia phagocytophila of equine origin

We report the isolation and partial genetic characterization of two equine strains of granulocytic Ehrlichia of the genogroup Ehrlichia phagocytophila. Frozen whole-blood samples from two Swedish horses with laboratory-verified granulocytic ehrlichiosis were inoculated into HL-60 cell cultures. Granulocytic Ehrlichia was isolated and propagated from both horses. DNA extracts from the respective strains were amplified by PCR using primers directed towards the 16S rRNA gene, the groESL heat shock operon gene, and the ank gene. The amplified gene fragments were sequenced and compared to known sequences in the GenBank database. With respect to the 16S rRNA gene, the groESL gene, and the ank gene, the DNA sequences of the two equine Ehrlichia isolates were identical to sequences found in isolates from clinical cases of granulocytic ehrlichiosis in humans and domestic animals in Sweden. However, compared to amplified DNA from an American Ehrlichia strain of the E. phagocytophila genogroup, differences were found in the groESL gene and ank gene sequences.