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Biomedical subjects

F Fortin

Publications and source records attributed to F Fortin.

At least 19 recordsLinked to original sources

Complex mosaicism in sex reversed SRY+ male twins.

Sex reversal is characterized by discordance between genetic and phenotypic sex. Most XX males result from an unequal interchange between X and Y chromosomes during paternal meiosis, therefore transferring SRY to the X chromosome, which explains the male development in the presence of an otherwise normal female karyotype. We present here the case of sex reversed SRY+ male twins with several cell lines. They consulted for infertility. The presence of SRY on an X chromosome was demonstrated by FISH. Their respective karyotypes were: 46,X,der(X)t(X;Y)(p22.3;p11.2)[249]/45,X [12]/45,der(X)t(X;Y)(p22.3;p11.2)[11]/47,XX,der(X)t(X;Y) (p22.3;p11.2)[1]/47,X,der(X)t(X;Y)(p22.3;p11.2)x2[1]/50, XX,der(X)t(X;Y)(p22.3;p11.2)x4[1]/46,XX[1] for the first twin (SH-1) and 46,X,der(X)t(X;Y)(p22.3;p11.2)[108]/45,X [3]/47,XX,der(X)t(X;Y)(p22.3;p11.2)[2]/45,der(X)t(X;Y) (p22.3;p11.2)[1]/47,X,der(X)t(X;Y)(p22.3;p11.2)x2[1] for the second twin (SH-2). There are three different types of XX males: 1) with normal genitalia, 2) with genital ambiguity, and 3) XX true hermaphrodites. The phenotype of the twins presented in this report is consistent with what is generally seen in XX SRY+ males: they have normal genitalia.

Adult↗

Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes.

Because ring Y chromosomes are unstable during cell division most reported patients are mosaics, usually including a 45,X cell line. The phenotype varies from normal males or females with streak gonads to sexual ambiguities. We present here the case of a 23-year-old man who was referred at 11 years for growth delay. The GTG-banded karyotypes of lymphocytes revealed two cell lines: 46,X,dic r(Y) seen in 76% of the metaphases analyzed and 45,X (24%). Karyotypes and FISH were performed eight years later with the following probes: DYZ3 (Y centromere), SRY (sex-region of the Y), DYZ1 (Yq heterochromatin), CEPX/Y (X centromere and Yq heterochromatin), TelVysion Xp/Yp, Xq/Yq (X and Y subtelomeres), pan-telomeric, cosmid clones LLycos130G04 and LLycos37C09 (PARII), and BAC clone RP11-5C5 (Yq11.223). The results showed an increase in the 45,X cell line (60%) and a reduction in the 46,X,dic r(Y) cell line (36.4%). The use of Yq probes showed that the ring Y chromosome was dicentric. In addition, other ring Y structures were observed. The breakpoints occurred in proximal Yp11.32 or in Yp11.31 distal to SRY and in Yq12 distal to the PARII region. Therefore, most of the Y remained intact and all genes, with the exception of those in PARI, are present in double dosage in the dic r(Y). The level of mosaicism was important in defining the phenotype.

Adult↗

The effect of tiotropium on hyperinflation and exercise capacity in chronic obstructive pulmonary disease.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation, which results in the progressive development of dyspnea and exercise limitation. OBJECTIVE AND METHODS: To compare the effect of tiotropium with placebo on forced vital capacity (FVC) in patients with moderate-to-severe COPD and lung hyperinflation, using exercise endurance, dyspnea and health-related quality of life (HRQoL) as secondary endpoints. One hundred patients were randomized to receive either tiotropium 18 mug once daily or placebo for 12 weeks. RESULTS: Trough (predose) FVC was significantly improved with tiotropium compared to placebo on day 42 (0.27 +/- 0.08 liters) and 84 (0.20 +/- 0.08 liters; p < 0.05 for both). Trough inspiratory capacity (IC) was also significantly improved with tiotropium compared to placebo on day 42 (0.16 +/- 0.07 liters) and 84 (0.15 +/- 0.07 liters; p < 0.05 for both). Tiotropium increased the mean distance walked during the shuttle walking test by 33 +/- 12 (day 42) and 36 +/- 14 m (day 84) compared to placebo (p < 0.05 for both). On day 84, 59% of the patients in the tiotropium group and 35% of the patients in the placebo group had significant and clinically meaningful improvements in the St. George's Respiratory Questionnaire total score (p < 0.05). Numerical decreases in the focal score in the Transition Dyspnea Index in patients receiving tiotropium versus placebo suggest that tiotropium also improved dyspnea during activities of daily living. CONCLUSION: Tiotropium 18 mug once daily reduced hyperinflation with consequent improvements in walking distance and HRQoL in patients with COPD and lung hyperinflation.

Adult↗

[Use of research in clinical practice: support program for cardiac patients].

The research aims at the acquisition of knowledge and its application in the practice. The knowledge which most interests the nurses is the one pertaining to the improvement of nursing practice. Before initiating a change in the clinical practice on the basis of the research results, it is important to consider some rigorous criteria which will provide guidance to an enlightened decision as to whether such results should be adopted or not. With the help of an example of nursing care concerning a support programme for the benefit of heart patients, this article presents the application of a model of use of research results. The model consists of six phases in support of a critical judgement on the value of a scientific work: preparation, validation, comparative evaluation, decision making, adoption/application and evaluation. Each of these phases states the application of the model criteria, not only to the results, but to the whole research processes followed by the author. This model of research use can provide the nurse with means of proposing changes in the practice, based on the knowledge issuing from research.

Clinical Nursing Research↗

[Effects of ambulatory respiratory rehabilitation on exercise tolerance and quality of life in chronic obstructive lung disease patients].

Respiratory rehabilitation is a multidisciplinary medical approach which allows a total care of patients suffering from COPD. Optimisation of bronchodilator treatment, health education, cessation of smoking, dietetic, relaxation and re-entrainment to effort. We report out experience concerning 88 BPCO (mean age 62.1, FEV1 of 1.4 litres; or 48% of predicted normal); these 88 patients were cared for on an ambulatory basis at our centre for two hours per session, three times per week for seven weeks. The objective results were analysed on exercise tests before and after treatment. For ventilation, there was a significant improvement in the power developed (from 45.5+/-17.1 to 53.4+/-23 watts; p<0.001) without any change in the oxygen consumption (VO2), ventilation (VE) or heart rate (FC) and of oxygen pulse (VO2/FC). For the same level of power (80% of maximum power for the initial exercise test) there was a significant lowering of ventilation (V=33.5+/-9.4 to 30.7+/-7.4 litres per minute, p<0.001), cardiac frequency (FC: from 116.9+/-16 to 111.1+/-13.1 beats per minute, p<0.001) as well as the oxygen pulse (VO2/FC: from 7.9+/-2.7 to 8.3+/-3.7). At the maximum on the exercise test all the parameters studied were significantly better: watts, VO2, VE, cardiac frequency and VO2/FC. A study of the visual analogue scale (EVA), analysing sleep, anxiety, dyspnoea and the physical aspects showed a significant improvement in the four subjective parameters. Respiratory rehabilitation of BPCO practiced as an out patient has shown an improvement in exercise tolerance in every day activities and improvement in dyspnoea and in the quality of life.

Aged↗

[The significance of maximal expiratory concentrations of CO2 (MEC CO2) in the negative diagnosis of acute pulmonary embolism in chronic obstructive bronchopneumopathies].

The aim of this prospective study was to analyse the contribution of the measurement of alveolar arterial gradients of CO2 during forced expiration in the diagnosis of pulmonary emboli occurring in chronic airflow obstruction (COPD) as a result of smoking. The study was carried out on 178 patients: Group 1: 54 subjects without emboli (14 controls, 33 COPD and 7 patients with chest pain); Group 2: 72 patients with proved emboli (49 non COPD, 23 COPD); Group 3: 52 patients COPD presenting with varied non-embolic broncho-pulmonary pathology (pneumonia, bronchospasm, pulmonary oedema, bronchial neoplasm). The diagnosis of pulmonary emboli was confirmed by scintigraphy in patients with non COPD or angiography (in patients with COPD). The maximal fraction of CO2 was measured using a capnologue during a forced expiration which was long and prolonged until residual volume was achieved. The PaCO2 was measured simultaneously by an analysis of arterial blood gases. The D index was calculated according to the formula [(PaCO2-PEM CO2)/PaCO2] x 100. The D index was significantly lower in Group 1 (3.42 +/- 3.8% p < 0.0001) than in Group 2 (20.8 +/- 10%) and Group 3 (17.6 +/- 11.7%) (not significant between Groups 2 and 3). In patients with COPD the specificity and sensitivity and the predicted positive and negative value were 100% for a D limit of 7%. In COPD patients these values were respectively 82, 95, 75 and 96% for a D limit of 7%; on the other hand for a D below 5% the values were 60, 100, 64 and 100% respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Superoxide anion generation by alveolar inflammatory cells in simple pneumoconiosis and in progressive massive fibrosis of nonsmoking coal workers.

We have examined superoxide anion (O2-) release by alveolar inflammatory cells recovered by bronchoalveolar lavage from the lower respiratory tract of 10 healthy nonsmokers and 25 nonsmoking pneumoconiotic patients, 11 with radiographic changes of simple pneumoconiosis (SP) and 14 with changes of progressive massive fibrosis (PMF). Significant increased number of cells was recovered from the lower respiratory tract from both patients with SP or with PMF. Alveolitis was made up predominantly of alveolar macrophages (AM) and an increased percentage of neutrophils in patients with PMF (3.3 +/- 0.7%). O2- release was evaluated using a superoxide dismutase (SOD)-inhibitable lucigenin-dependent chemiluminescence method. Spontaneous O2- generation by alveolar inflammatory cells from pneumoconiotic patients with SP was three to four times greater than that from 10 age-matched, healthy control subjects. O2- release by alveolar inflammatory cells from patients with PMF was dramatically increased when compared with that in patients with SP and with that in control subjects and was observed before and after stimulation by phorbol myristate acetate (PMA) (p less than 0.001). The increased O2- release was not due to a lack of enzyme antioxidant system within AM since intracellular superoxide dismutase was not lower in AM from patients than in AM from control subjects (p less than 0.05). Alteration of DLCO correlated with PMA-induced superoxide release by alveolar inflammatory cells in patients with PMF (p less than 0.05). Our data demonstrate that alveolar inflammatory cells from pneumoconiotic patients with PMF are in the activated state and release more oxygen-reactive species that do those from patients with SP.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

[Interstitial pathology and pregnancy].

Pregnancy is an important factor in the outcome of interstitial pneumonias. The outcome for sarcoidosis and rheumatoid disease is favourable as a rule, and these disorders have little influence on the progress of the disease. Idiopathic pulmonary fibrosis or fibrosis complicating scleroderma or dermatopolymyositis requires careful management considering the frequent complications at foetal level. During systemic disorders, recourse to corticosteroid-cyclophosphamide regime is possible from the second trimester. Drug induced pneumonias remain rare, do not influence pregnancy and most often only require the arrest of the incriminated drug.

Female↗

[Severe pulmonary embolism disclosing a deficiency in protein C].

A constitutional deficit in protein C is a rare disorder. Our report concerns a 35 year old non-smoking male, presenting with a past history of uncomplicated phlebitis of the lower limbs. In the course of a new episode of phlebitis, the patient presented with a severe pulmonary embolus treated by embolectomy under extracorporal circulation, with interruption of the inferior vena cava. The plasma level of protein C (Elisa technique) measured before treatment with antivitamin K was 40% (normal 70-140%). The absence of associated hepatic or haematological anomalies confirmed the constitutional character of the deficit. The immediate and subsequent progress turned out favourably on treatment with heparin, then anti-vitamin K.

Adult↗

Nurse practitioners in primary care. VII. A cohort study of 99 nurses and 79 associated physicians.

Long-term surveillance of the employment experience and developing roles of 99 nurses and 79 associated physicians who participated in the first 5 years of the McMaster University educational program for family practice nurses was undertaken with a descriptive survey. Data were gathered by mailed questionnaires; a 97.8% response rate was attained. Sociodemographic profiles of both groups and characteristics of the practice setting where copractitioner teams functioned were determined. Selected noteworthy results show that 92.7% of the nurses were currently employed, and that 82.5% of the graduates continued in their original practice. Nurses' time invested in patient care activities increased by 105%; time devoted to clerical and housekeeping duties decreased by 42%. Changes in roles for both categories of copractitioners were important. The interdisciplinary arrangements resulted in appreciable financial disadvantages to physicians and only modest income incentives to nurses. A series of successes of the model of practice under assessment has been identified; offsetting ongoing difficulties and problems have also been enumerated. The data from this project and preceding studies can facilitate the solution of unresolved problems on the basis of evidence rather than opinion.

Adult↗