Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation.
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Chromosomes, Human, Pair 1↗
Biomedical subjects
E Sala
Publications and source records attributed to E Sala.
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts.
Two grades (high and low) of microsatellite instability (MSI) are known, depending on the number of mutated markers and the amount of allelic shifts. Forty-two colorectal tumors, previously found to have high-degree MSI at dinucleotidic repeat loci, were revisited with BAT26, a mononucleotide marker, and the number of shifted bases were counted. Seven tumors, all with local stages at diagnosis, had < or =6-bp deletions and consistently displayed shorter shifts also with other intronic mononucleotide markers. Analysis of mononucleotide tracts in the coding regions of MSH3, MSH6, BAX, and TGFbetaRII in the groups with large (>6 bp) and short (< or =6 bp) allelic shifts showed specific patterns of involvement for the individual genes: TGFbetaRII displayed a uniformly high rate of mutations, while MSH3, MSH6, and BAX were less frequently altered in tumors with short shifts. Our findings suggest that microsatellite instability arises gradually, evenly involving loci with similar features of length and repetition. However, target genes have a specific timing of mutation in this process: TGFbetaRII is involved in the early phases, while BAX and MSH6 are frequently associated with big size shifts and tumors with more advanced stages.
Alleles↗
Smoking and high-risk mammographic parenchymal patterns: a case-control study.
STATEMENT OF FINDINGS: Current smoking was strongly and inversely associated with high-risk patterns, after adjustment for concomitant risk factors. Relative to never smokers, current smokers were significantly less likely to have a high-risk pattern. Similar results were obtained when the analysis was confined to postmenopausal women. Past smoking was not related to the mammographic parenchymal patterns. The overall effect in postmenopausal women lost its significance when adjusted for other risk factors for P2/DY patterns that were found to be significant in the present study, although the results are still strongly suggestive. The present data indicate that adjustment for current smoking status is important when evaluating the relationship between mammographic parenchymal pattern and breast cancer risk. They also indicate that smoking is a prominent potential confounder when analyzing effects of other risk factors such as obesity-related variables. It appears that parenchymal patterns may act as an informative biomarker of the effect of cigarette smoking on breast cancer risk.
Breast Neoplasms↗
Effects of prolonged oral reading on F0, SPL, subglottal pressure and amplitude characteristics of glottal flow waveforms.
The effects of prolonged (5x45 minute) reading (vocal loading) on fundamental frequency (F0), sound pressure level (SPL), subglottal (intraroral) pressure (p), and two glottal flow waveform parameters (AC amplitude of glottal flow, f, and negative peak amplitude of differentiated flow (d) of normal female and male subjects (N = 80) were studied. Two rest (morning and noon) and three loading (two in the morning and one in the afternoon) samples were recorded and analyzed. The glottal waveforms were obtained by inverse filtering of the acoustic pressure waveforms of speaking voice samples. The analyses were based on measurement and inverse filtering of the first stressed syllable of "paappa" words repeated 3x5 times for normal, as soft as possible, and as loud as possible phonation. In normal phonation the parameter values changed statistically significantly due to loading. In many cases the values obtained in the morning samples changed after the first loading session. This is interpreted as a vocal "warming-up effect." Especially in soft phonation p, d, and f were sensitive indicators of vocal loading. In both normal and soft phonation, the SPL, p, d, and f values tended to rise due to prolonged reading in the morning and afternoon samples, indicating increased effort (normal phonation) and a rise in the phonatory threshold (soft phonation). The lunch break vocal rest ("rest effect") considerably affected the parameter values in many cases.
Adolescent↗
High-risk mammographic parenchymal patterns and anthropometric measures: a case-control study.
Mammographic parenchymal patterns are related to breast cancer risk and are also affected by anthropometric measure. We carried out a case-control study comprising 200 cases with high-risk (P2 and DY) mammographic parenchymal pattern and 200 controls with low-risk (N1 and P1) patterns in order to investigate the effect of body size and shape and breast size on mammographic patterns. Women in the highest quartile of body mass index (BMI) distribution were significantly less likely to have a high-risk pattern (odds ratio (OR) = 0.21, 95% confidence interval (CI) 0.08-0.52, P-value for trend = 0.001) compared to those in the lowest quartile. Relative to women with a waist to hip ratio (WHR) of less than 0.75, the OR of having a high-risk pattern in women with a WHR greater than 0.80 was 0.30 (95% CI 0.14-0.63). Breast size as measured by cup size was significantly and negatively related to high-risk pattern. Our study indicates that both BMI and WHR are negatively associated with high-risk patterns. However, both phenomena are associated with increased risk of breast cancer in postmenopausal women. This negative confounding of two positive risk factors means that the effect of parenchymal patterns on risk will tend to be underestimated when not adjusted for BMI and WHR and vice versa. Thus we may have underestimated the importance of BMI and mammographic parenchymal patterns in the past. Further studies are needed to determine a measure of parenchymal density that is independent of anthropometric measures and breast size.
Aged↗
Effects of endurance training on skeletal muscle bioenergetics in chronic obstructive pulmonary disease.
Physiologic adaptations after an 8-wk endurance training program were examined in 13 patients with chronic obstructive pulmonary disease (COPD) (age, 64 +/- 4 [SD] yr; FEV1, 43 +/- 9% pred; PaO2, 72 +/- 8 mm Hg; and PaCO2, 36 +/- 2 mm Hg) and in eight healthy sedentary control subjects (61 +/- 4 yr). Both pre- and post-training studies included: (1) whole-body oxygen consumption (V O2) and one-leg O2 uptake (V O2leg) during exercise; and (2) intracellular pH (pHi) and inorganic phosphate to phosphocreatine ratio ([Pi]/[PCr]) during exercise; and half-time of [PCr] recovery. After training, the two groups increased peak V O2 (p < 0.05 each) and showed a similar fall in submaximal femoral venous lactate levels (p < 0.05 each). However, control subjects increased peak V E (p < 0.01) and raised peak O2 delivery (p = 0.05), not shown in patients with COPD. Both groups increased post-training O2 extraction ratio (p < 0.05). The most consistent finding, however, was in patients with COPD, who had a substantial improvement in cellular bioenergetics: (1) half-time of [PCr] recovery fell from 50 +/- 8 to 34 +/- 7 s (p = 0.02); and (2) at a given submaximal work rate, [Pi]/[PCr] ratio decreased and pHi increased (p < 0.05 each). We conclude that beneficial effects of training in patients with COPD essentially occurred at muscle level during submaximal exercise.
Aged↗
Nested polymerase chain reaction for Mycobacterium tuberculosis IS6110 sequence on formalin-fixed paraffin-embedded tissues with granulomatous diseases for rapid diagnosis of tuberculosis.
We evaluated the sensitivity and specificity of a nested polymerase chain reaction (PCR) to the Mycobacterium tuberculosis IS6110 sequence on formalin-fixed paraffin-embedded tissue samples from patients with tubercular and other granulomatous lesions. Five groups of patients and samples were studied: (1) 28 samples from HIV-positive patients with tuberculosis, (2) 8 samples from HIV-negative patients with histologically suspected tuberculosis (confirmed by culture in 5 cases), (3) lymph nodes from 5 HIV-positive patients with Mycobacterium avium-intracellulare infection, (4) lymph nodes from 30 patients with sarcoidosis, and (5) specimens from 17 patients with other granulomatous diseases. The DNA was extracted from sections with a total thickness of 60 microm, and PCR amplified an internal fragment of 123 base pairs. All of the cases with M. tuberculosis infection were PCR-positive, although this sensitivity was partially related to the initial concentration of the DNA used for amplification. Two of the group 4 samples also were repeatedly positive, thus reducing the specificity of the method. All of the cases with granulomatous diseases other than sarcoidosis were negative. We propose a simplified and highly sensitive nested PCR for the diagnosis of M. tuberculosis infection on archived material in HIV-positive and HIV-negative patients.
AIDS-Related Opportunistic Infections↗
Positional changes and drug interventions in acute respiratory failure.
Acute respiratory failure is often a life-threatening condition that determines the outcome of acutely ill patients. This review discusses the physiological basis and results of two complementary approaches for the management of such patients: positional changes and drug interventions. In unilateral pulmonary disease locating the healthy lung in a dependent position may improve gas exchange; in bilateral involvement, as occurs in the acute respiratory distress syndrome (ARDS), both the theoretical principles and the observed benefits fully support the use of the prone position. The effect of vasoactive drugs on pulmonary circulation and gas exchange is also reviewed. Selective vasodilators, such as inhaled nitric oxide and prostacycline-12, may provide a useful alternative in ARDS.
Acute Disease↗
Multicenter evaluation of the COBAS AMPLICOR HCV assay, an integrated PCR system for rapid detection of hepatitis C virus RNA in the diagnostic laboratory.
The benefits shown by the recent introduction of PCR for the in vitro diagnosis of hepatitis C virus (HCV) infection has prompted the development of standardized, ready-to-use assays that can be implemented in routine clinical laboratories. We have evaluated the clinical performance of COBAS AMPLICOR HCV (COBAS), the first instrument system that allows the automation of HCV RNA amplification and detection, to determine its performance in the routine laboratory setting. More than 2,000 specimens collected at five centers were analyzed in parallel by the COBAS and the manual AMPLICOR HCV (AMPLICOR) tests, and the results were compared with the results for biochemical and serological markers of HCV. In this study the two PCR systems showed the same accuracy, with a concordance rate of 99.8%. As expected, the correlation between serology and PCR was not absolute because the presence of anti-HCV antibodies may be associated with a latent or past infection. On the other hand, if the presence of confirmed anti-HCV antibodies and elevated alanine aminotransferase levels are taken as the "gold standard," indicating an active, ongoing infection, the COBAS and AMPLICOR tests show high and comparable sensitivities (100%) and specificities (98%), with positive and negative predictive values of 100 and 97%, respectively. During the study no false-positive reactions were detected. The use of an internal control allowed the identification of inhibitory substances that prevented amplification for 0.3 and 0.4% of samples tested by the COBAS and AMPLICOR tests, respectively. Compared to the manual system, the COBAS system allowed a significant reduction of hands-on time and could improve the overall laboratory work flow. In conclusion, these results support the use of the COBAS and AMPLICOR tests for the molecular diagnosis of active HCV infections.
Hepacivirus↗
Mammographic parenchymal patterns and mode of detection: implications for the breast screening programme.
OBJECTIVES: To assess the effects of mammographic parenchymal patterns on the risk of breast cancer detected at first screen, second screen, and in the interval between these two screens. SETTINGS: A nested case-control study within a screening cohort in East Anglia was designed. The study group comprised 502 patients with cancer at the prevalence screening round, 198 patients with interval cancer, and 175 with cancer at the first incidence screen. These patients were matched with 2601 controls. METHODS: The mammographic parenchymal patterns of breast tissue were assessed according to Wolfe's classification. Statistical analysis was by conditional logistic regression. RESULTS: Overall, 67% of patients and 59% of controls were considered to have high risk pattern (P2 + DY) mammogram. The risk associated with P2 or DY mammographic patterns compared with N1 was higher for interval cancers (odds ratios (ORs) 2.2 and 2.4 respectively) than for screen detected cancers (ORs 1.7 and 1.1 respectively). For interval cancers in the first 18 months after the last negative mammogram, the risk was particularly high (ORs 3.8 for P2 and 4.1 for DY compared with N1). The high risk associated with P2 and DY patterns was concentrated on invasive ductal grade III cancers (ORs 2.7 and 3.8) rather than grade I or II cancers (ORs 1.6 and 1.2). CONCLUSIONS: The study strongly suggests that screening effectiveness is reduced for high risk parenchymal patterns which are associated with high grade cancers. Changes should aim at improving screening sensitivity for dense parenchymal patterns, and the diagnosis of high grade tumours.
Aged↗
Occupational skin and respiratory diseases among hairdressers.
OBJECTIVES: The occurrence and causes of hairdressers' occupational skin and respiratory diseases were studied. METHODS: Of a random sample of 500 female hairdressers aged 15-54 years, 355 were available for study. Of the 189 reporting work-related skin and respiratory symptoms in a computer-aided telephone interview on exposure and health, 130 underwent a physical examination, lung function tests, prick and patch testing, and nasal and lung provocation tests. An occupational disease was diagnosed when the causality between exposure and disease was probable and the clinical tests supported the diagnosis. RESULTS: The telephone interview revealed a life-time prevalence of 16.9% for hand dermatoses, 16.9% for allergic rhinitis, and 4.5% for asthma among the hairdressers. In the clinical investigations, the prevalence was 2.8% for occupational dermatoses, 1.7% for occupational rhinitis, and 0.8% for occupational asthma. Ammonium persulfate caused 90% of the respiratory diseases and 27% of the hand dermatoses. Paraphenylenediamine, natural rubber latex, and skin irritation were also causes of hand dermatitis. Allergy to human dandruff (8.6%) and Pityrosporum ovale (12.1%) was common. Previously diagnosed atopic diseases increased the risk for occupational skin or respiratory disease 3-fold (odds ratio 2.9, 95% confidence interval 1.1-7.9). Of the cases, 37.5% (6 of 16 persons) had to change occupations during a 3-year follow-up. CONCLUSIONS: Work-related skin and respiratory symptoms are common among hairdressers. Often a specific cause (eg, ammonium persulfate) can be found if occupational diseases are suspected and diagnosed. Hairdressers with atopic diseases are at risk of developing occupational skin and respiratory diseases.
Adult↗
Effects of prolonged oral reading on time-based glottal flow waveform parameters with special reference to gender differences.
The effects of prolonged (5 x 45 min) reading (loading) on time-based glottal waveform parameters of normal female and male subjects (n = 80) were studied. Two rest (morning and noon) and three loading (two in the morning and one in the afternoon) samples were recorded and analyzed. The glottal waveforms were obtained by inverse filtering of the acoustical signal using an automatic method. The following time-based parameters were analyzed from the estimated glottal flow waveform: (1) length of fundamental period (T); (2) open quotient (OQ); (3) speed quotient (SQ); (4) closing quotient (C1Q). The analysis was based on inverse filtering of the first stressed syllable of 'paappa' words produced with normal, maximally soft and maximally loud phonation. In the morning samples the loading affected only the T and OQ values of normal phonation in a statistically significant manner. In the afternoon all the quotient values changed statistically significantly in loud and normal phonation. On the basis of increased SQ and decreased C1Q values of females it is hypothesized that the female voices tended to change towards hyperfunction due to vocal loading.
Adolescent↗
Loading changes in time-based parameters of glottal flow waveforms in different ergonomic conditions.
The effects of prolonged (5 x 45 min) reading in different environmental and ergonomic conditions on time-based glottal waveform parameters of normal female and male subjects (n = 80) were studied. The exposure groups (n = 5 females and males per cell) consisted of eight combinations of the following factors: (1) normal (< 65 dB) or high (> 65 dB) speech output level; (2) sitting or standing posture; (3) low (25 +/- 5%) or high (65 +/- 5%) relative humidity of ambient air. Two rest (morning and noon) and three loading (two in the morning and one in the afternoon) samples were recorded and analyzed. The glottal waveforms were obtained by inverse filtering of the acoustical signal using an automatic method. The following time based parameters were analyzed from the estimate glottal flow waveform: (1) length of fundamental period; (2) open quotient; (3) speed quotient, and (4) closing quotient. The analysis was based on inverse filtering of the first stressed syllable of 'paappa' word repeated 3 x 5 times with normal, maximally soft and maximally loud phonation. Humidity was a significant factor in several instances. The interactions between gender and the loading factors were striking.
Adolescent↗
Nasal provocation test in the diagnostics of hairdressers' occupational rhinitis.
Hairdressers are exposed daily at their work to many different hair chemicals and dandruff. The work-related nasal symptoms are common, especially with hair bleaching and striping. There are some reports on hairdressers asthma, but publications concerning occupational rhinitis among hairdressers are very few. The purpose of this study is to investigate the work-related rhinitis symptoms of hairdressers, and to study whether nasal provocation tests (NPTs) can be applied in diagnostics. The study subjects were 40 hairdressers having work-related rhinitis symptoms. Detailed work and exposure histories and work-related symptoms were inquired of using a questionnaire. Prick tests were done. Altogether 142 NPTs were done: 40 placebo, 36 dandruff, 35 ammonium persulphate (APS), and 31 ammonium thioglycolate (ATG). To register the nasal response rhinorrhea and nasal blockage were scored. In 3 allergen NPTs there was an essential change in the nasal status: in 2 APS and in 1 dandruff tests. Three patients were diagnosed as having an occupational rhinitis. The low number of positive reactions in NPTs and few positive reactions in skin prick tests verified that immediate allergy caused by hairdressers' work substances is uncommon. However, in cases of clear work-related rhinitis, there is a need to perform examinations to find the probable allergy.
Adult↗
JCV-DNA and BKV-DNA in the CNS tissue and CSF of AIDS patients and normal subjects. Study of 41 cases and review of the literature.
SUMMARY: We studied the distribution and localization of the human papova-viruses JCV and BKV in the central nervous system (CNS) and cerebrospinal fluid (CSF) of HIV-positive patients with and without progressive multifocal leukoencephalopathy (PML) as compared with HIV-seronegative patients. The presence of JCV-DNA and BKV-DNA was evaluated by nested polymerase chain reaction (PCR) and in situ hybridization (ISH) on CNS autopsy tissues of AIDS patients with (group A, n = 13) and without (group B, n = 16) PML and of HIV-negative patients (group C, n = 12). PCR for JCV-DNA and BKV-DNA was also performed on CSF samples collected 7-420 days before death in all the 29 AIDS patients. Tissue PCR for JCV-DNA was positive in all the cases in group A, in 44 percent of the patients in group B, and in 33 percent of the patients in group C. ISH was positive in all the cases with PML and in three AIDS cases without PML (12 percent), but negative in all the HIV-negative cases. BKV-DNA was detected in two cases from group A and in one case from group B. CSF was PCR-positive for JCV-DNA in 8 of 13 (62 percent) AIDS patients with PML, but in none of the HIV patients without PML, irrespective of the presence of JCV-DNA in CNS tissues. No CSF sample was positive for BKV-DNA. Our data demonstrates that JCV-DNA and, rarely, BKV-DNA can be detected in the CNS of immunocompromised patients with and without PML and also in the CNS of HIV-negative subjects. However, only HIV-positive patients with clinically evident PML and JCV-DNA in the brain have PCR-detectable JCV-DNA in their CSF.
AIDS-Related Opportunistic Infections↗
Occupational laryngitis caused by formaldehyde: a case report.
Formaldehyde is commonly accepted to be an allergen and irritant. However, specifically diagnosed occupational respiratory diseases caused by formaldehyde are relatively rare. Occupational laryngitis was diagnosed in a 47-year-old dairy foreman. He had been exposed for 9 years to formaldehyde emitted from a milk-packing machine situated underneath his office. His exposure level varied considerably. Under normal process conditions, the measured formaldehyde level was 0.03 mg/m3. The patient was examined by different specialists over 1 1/2 years. It was concluded that he had psychogenic dysphonia. However, a specific laryngeal provocation test with formaldehyde carried out at the Finnish Institute of Occupational Health was positive. His laryngitis was so serious that he was pensioned. During the 3 years of follow-up his condition gradually worsened. He now reacts especially to tobacco smoke and other air impurities known to contain formaldehyde.
Air Pollutants, Occupational↗
Clinical diagnosis of mycobacterial diseases versus autopsy findings in 350 patients with AIDS.
Three-hundred fifty consecutively autopsied AIDS patients in Milan, Italy, were studied to determine the frequencies of clinical and postmortem diagnoses of mycobacterial diseases, to evaluate the clinical histories of those patients with mycobacterial diseases, and to investigate the reasons for nondiagnosis of mycobacterial diseases during life. Seventy-eight patients (22.3%) had mycobacterial diseases. In 64 cases (18.3%) the diagnosis was made antemortem and in 50 (14.2%) at autopsy; there were 36 cases of concordant clinical and postmortem diagnoses. Nontuberculous mycobacterioses (NTM) were diagnosed in 41 patients (20 clinical/postmortem diagnoses, 11 clinical diagnoses, and 10 postmortem diagnoses), extrapulmonary tuberculosis (TB) in 19 patients (7 clinical/postmorten, 8 clinical, 4 postmortem), and pulmonary TB in 18 patients (9 clinical/postmorten, 9 clinical). Patients with a clinical diagnosis of mycobacteriosis but with no pathological evidence of disease at autopsy were considered to have recovered on the basis of negative culture findings and prolonged antimycobacterial treatment. In Italian patients with AIDS, NTM occurs less frequently and TB more frequently than in American AIDS patients. At least some of the patients reported in this study seemed to have recovered from mycobacterial disease after prolonged treatment. The lack of diagnosis during life can be attributed to aspecific symptoms, a rapidly terminal course, and the presence of concomitant opportunistic diseases.
Acquired Immunodeficiency Syndrome↗
Coinfection of the central nervous system by cytomegalovirus and herpes simplex virus type 1 or 2 in AIDS patients: autopsy study on 82 cases by immunohistochemistry and polymerase chain reaction.
We evaluated the frequency and histopathological features of concomitant infections of the central nervous system (CNS) with cytomegalovirus (CMV) and herpes simplex viruses type 1 or 2 (HSV1/2) in a large series of patients who had died from AIDS. Eighty-two autopsy cases with a histological diagnosis of CMV necrotizing encephalitis were examined retrospectively. CMV and HSV1/2 were detected by immunohistochemistry (IHC) with poly- and monoclonal antibodies and by nested polymerase chain reaction (PCR) for HSV 1 and 2 on DNA extracted from paraffin blocks. PCR for a beta-globin genomic sequence was performed in all IHC-positive cases to verify the integrity of extracted DNA. Concomitant CMV/HSV infections were demonstrated by IHC in 13 cases (16%); using monoclonal antibodies, HSV1 was found in 9 cases and HSV2 in 4 cases. In half of the cases, HSV1- or HSV2-positive cells represented more than 25% of immunopositive CMV cells. In all 13 cases, double immunochemical staining showed cells containing both CMV and HSV antigens. PCR for HSV1 and 2 was positive in only 7 of 13 cases (5 HSV1 and 2 HSV2). In the remaining 6 negative cases PCR for beta-globin was also repeatedly negative. HSV1 or 2 infection can be demonstrated by IHC in a significant proportion of AIDS cases with necrotizing CMV encephalitis. Nested PCR for HSV1 and 2 on DNA extracted from formalin-fixed and paraffin-embedded autopsy tissues was positive in only slighty above 50% of IHC-positive cases.
AIDS-Related Opportunistic Infections↗