IntroductionWe hypothesised that breast cancer risk for relatives of women with early-onset breast cancer could be predicted by tumour morphological features.MethodsWe studied female first-degree relatives of a population-based sample of 452 index cases with a first primary invasive breast cancer diagnosed before the age of 40 years. For the index cases, a standardised tumour morphology review had been conducted for all; estrogen (ER) and progesterone receptor (PR) status was available for 401 (89%), and 77 (17%) had a high-risk mutation in a breast cancer susceptibility gene or methylation of the BRCA1 promoter region in peripheral blood DNA. We calculated standardised incidence ratios (SIR) by comparing the number of mothers and sisters with breast cancer with the number expected based on Australian incidence rates specific for age and year of birth.ResultsUsing Cox proportional hazards modelling, absence of extensive sclerosis, extensive intraductal carcinoma, absence of acinar and glandular growth patterns, and the presence of trabecular and lobular growth patterns were independent predictors with between a 1.8- and 3.1-fold increased risk for relatives (all P <0.02). Excluding index cases with known genetic predisposition or BRCA1 promoter methylation, absence of extensive sclerosis, circumscribed growth, extensive intraductal carcinoma and lobular growth pattern were independent predictors with between a 2.0- and 3.3-fold increased risk for relatives (all P <0.02). Relatives of the 128 (34%) index cases with none of these four features were at population risk (SIR = 1.03, 95% CI = 0.57 to 1.85) while relatives of the 37 (10%) index cases with two or more features were at high risk (SIR = 5.18, 95% CI = 3.22 to 8.33).ConclusionsThis wide variation in risks for relatives based on tumour characteristics could be of clinical value, help discover new breast cancer susceptibility genes and be an advance on the current clinical practice of using ER and PR as pathology-based predictors of familial and possibly genetic risks.
A male patient, aged 33, was treated at the Clinicfor Oncology, Hematology and Radiotherapy atthe University Clinical Center, Tuzla, with thediagnosis of diffuse large B-cell lymphoma. Conformalradiotherapy was conducted on the regionof the epipharynx, oropharynx and lymphnodes of the neck on both sides (1).
Walking is a complex, rhythmic task performed by the locomotor system. However, natural gait rhythms can be influenced by metronomic auditory stimuli, a phenomenon of particular interest in neurological rehabilitation. In this paper, we examined the effects of aural, visual and tactile rhythmic cues on the temporal dynamics associated with human gait. Data were collected from fifteen healthy adults in two sessions. Each session consisted of five 15-minute trials. In the first trial of each session, participants walked at their preferred walking speed. In subsequent trials, participants were asked to walk to a metronomic beat, provided through visually, aurally, tactile or all three cues (simultaneously and in sync), the pace of which was set to the preferred walking speed of the first trial. Using the collected data, we extracted several parameters including: gait speed, mean stride interval, stride interval variability, scaling exponent and maximum Lyapunov exponent. The extracted parameters showed that rhythmic sensory cues affect the temporal dynamics of human gait. The auditory rhythmic cue had the greatest influence on the gait parameters, while the visual cue had no statistically significant effect on the scaling exponent. These results demonstrate that visual rhythmic cues could be considered as an alternative cueing modality in rehabilitation without concern of adversely altering the statistical persistence of walking.
Abstract The Buffelgrass (Cenchrus ciliaris L., Poaceae) is one of the most important pasturage grasses due to its high productivity and good forage qualities. This species possess a high adaptability to bioclimatic constraints of arid zones and may be used for the restoration of degraded arid ecosystems. Tunisian populations present three ploidy levels (4x, 5x and 6x) with a basic chromosome number x=9. This study reported for the first time the distribution of the ribosomal genes (rRNA) for pentaploid and hexaploid cytotypes of Cenchrus ciliaris. Molecular cytogenetic study using double fluorescence in situ hybridization has shown that the two rDNA families, 5S and 18S-5.8S-26S (18S), displayed intraspecific variation in number of loci among different ploidy levels. Each ploidy level was characterized by specific number of both 5S and 18S rDNA loci (two loci in tetraploid, five in pentaploid and six in hexaploid level). For three studied cytotypes (4x, 5x and 6x) all 5S rDNA loci were localized on the subcentromeric region of chromosomes, while 18S loci were situated on the telomeric region of short chromosome arms. Data of the FISH experiments show proportional increase of ribosomal loci number during polyploidization processes.
MicroRNAs (miRNAs) are a class of small, 21-24 nucleotides long, non-coding RNAs involved in the post-transcriptional regulation of gene expression. Using the array analysis on Arabidopsis thaliana infected with the Oil-seed Rape Mosaic Virus (ORMV), we have found 28 up-regulated miRNAs. From them, six were selected for further validation by Northern blot analysis: miRNA172a, miRNA161, miRNA167a&b, miRNA168a&b, miRNA171a, and miRNA159. In addition, 29 miRNAs were detected in plants exposed to drought stress, 13 of those detected miRNAs were up-regulated and 16 down-regulated miRNAs. Out of 29 differentially expressed miRNAs during the abiotic stress, six miRNAs (167a&b, 168a&b, 173, 171b&c, 399d and 447c) were chosen for Northern blot and RT-PCR analysis to confirm the array results. Interestingly, four out of these six miRNAs, 171b&c, 168a&b, 399d, and 447c, showed very high abundance of pri-miRNAs and pre-miRNAs. Furthermore, mature forms of miRNAs171b&c, 399d, and 447c, were not detectable in the rosette leaves, indicating that miRNA processing is tissue specific. In conclusion, using the array analysis we show that 28 miRNAs are involved in the plant response to viral infection and 29 miRNAs are involved in the regulation of drought stress. We also demonstrate that at least some miRNAs involved in the stress response in Arabidopsis thaliana are regulated at the maturation level. One such example is miRNA 171b&c. This miRNA is transcribed in all tissues, evidenced by its detected pri and pre-miRNA forms; however, its mature form is constitutively or transiently expressed depending on the tissue type.
Interdigitating dendritic cell sarcoma is extremely rare neoplasm that mainly occurs in the lymph nodes. Only 45 cases have been reported in the literature to date. We report a case of this sarcoma arising from the liver and lung, a previosly unreported site for this neoplasm. An 19-year-old girl deteriorated rapidly after artificial abortion and died 4 weeks later. Autopsy showed markedly enlarged liver and lung with numerous nodules up to 0.5 centimeters in diameter. Microscopically, nodules was composed of large pleomorphic cells that were immunohistochemically positive for proteins S-100 and vimentin, some of them expressed positivity to fascin and CD 68, with a rich small CD3 positive T lymphocytic infiltrateite around them. Based of these findings, the present case was diagnosed as interdigitating dendritic cell sarcoma, a neoplasm that remains a diagnostic and clinical challenge, because it can mimic a wide variety of other malignant tumors and tumor-like lesions.
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