An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

Hereditary myopathy with early respiratory failure (HMERF) is a rare disorder characterized by severe respiratory involvement at onset, muscle weakness starting in the early adulthood, and cytoplasmic bodies with peculiar immunohistochemical reactivity on muscle biopsy. Here we describe a patient who presented with hypercapnic coma at age 32. A detailed light and electron microscopy analysis on muscle biopsy was performed and, together with clinical data, led to the diagnosis. The R279W mutation in the TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition.

Use of functional independence measure in rehabilitation of inpatients with respiratory failure.

Most outcomes do not deeply express the degree of disability in patients with respiratory failure (RF) following inpatient pulmonary rehabilitation (IPR). The aim of our study was to evaluate the efficacy of an IPR in patients with confirmed COPD and RF using functional independence measure (FIM) that determines the degree of disability experienced by patients and the progress they make during rehabilitation. This scale includes several items: self care, mobility, locomotion, communication and social recognition. Twenty-two patients (age 70+/-2 years, PO(2) 58.18+/-7.63mmHg, PCO(2) 46.82+/-9.11mmHg) were prospectively observed and studied. IPR included respiratory and peripheral muscle training, mucus evacuation techniques, and energy conservation techniques. FIM, Medical Research Council dyspnoea scale (MRC), St. George's Respiratory Questionnaire (SGRQ), and 6-min walking distance (6-MWD) were assessed on admission (pre) and discharge (post) from IPR. After IPR there was a statistically significant improvement (p<0.01) in all the FIM items (total score in self care, mobility, locomotion, social recognition) except for communication. Changes of MRC (pre 4.32+/-0.84; post 3.00+/-1.15, p<0.001), SGRQ (%) (pre 69.86+/-4.62; post 46.50+/-11.94, p<0.001), and 6-MWD (pre 164.54+/-98.63; post 214.32+/-97.64, p<0.001) paralleled those improvements. An inverse correlation between MRC and FIM (r=-0.5042, p=0.016) was observed. Our preliminary study has shown that the benefits of IPR in COPD with RF do not only translate in dyspnoea, exercise capacity and quality of life but also within neuromotor disabilities as assessed by FIM. Our results warrant future studies in pulmonary rehabilitation using FIM as an outcome measure.

Use of 6-min and 12-min walking test for assessing the efficacy of formoterol in COPD.

Exercise tolerance is an important outcome measure in patients with COPD, mostly because there is evidence that exercise testing is superior to other functional measurements obtained at rest in demonstrating the positive effect of a specific intervention. We assessed the effect of a 5-day treatment with formoterol 12 microg twice daily on lung function, exercise capacity and dyspnea in 22 stable COPD patients, and compared 6-MWT with 12-MWT in evaluating formoterol efficacy. All subjects entered a crossover design. They underwent 6-MWT or 12-MWT in a randomised order and soon after started the 5-day treatment. After a 3-day washout, patients who had first performed 6-MWT, underwent 12-MWT, and the contrary. Formoterol induced a progressively significant increase in pre-drug FEV1 and IC and also significant changes in these parameters 2 h after its inhalation at each test day. Moreover, it increased the walked distance by 53.6 m at the end of 6-MWT and 59.9 m at the end of 12-MWT. Formoterol also induced a significant change in Borg score for dyspnea caused by the 6-MWT when compared with the pre-treatment values, whereas it significantly changed dyspnea induced by 12-MWT only after the first dose. Our study not only strengthens the importance of walking tests as a useful tool for evaluating the impact of a bronchodilator on some COPD patient-centred outcomes, but also indicates that 6-MWT seems to be a more appropriate instrument than 12-MWT for assessing the exercise response to a bronchodilator in COPD.

Why Chlamydia pneumoniae is associated with asthma and other chronic conditions? Suggestions from a survey in unselected 9 yr old schoolchildren.

Despite numerous studies demonstrating an association between asthma and many other chronic conditions and signs of Chlamydia pneumoniae (Cp) infection, the role of Cp in the pathogenesis of these illness remain still unclear. We investigated the prevalence of Cp antigen in the upper airways and the prevalence of detectable Cp serum antibodies in an unselected population of 207 9-yr-old schoolchildren. We also sought the presence of asthma, chronic or recurrent respiratory symptoms by means of questionnaire completed by the parents. Nasal aspirate, blood sampling and allergen skin prick tests were also performed. None of the children had obvious signs of acute infection at physical examination. Cp DNA was detected in nasal aspirates from 20 of the 207 children tested and serum IgG antibodies for Cp in 68 children. No association was found between atopy or history of atopic illness and the presence of Cp DNA or antibody production. This finding is explained by the fact that our study was conducted in an unselected childhood population, inherently including few children with asthma. A strong association between the status of antigen carrier and the presence of detectable Cp serum immunoglobulin (Ig)G or IgM suggests that subjects with detectable Cp antibodies have an impaired ability to eliminate this pathogen when infected. Because Cp eradication requires a strong Th1 lymphocyte response, the previously proven association between Cp and asthma, might reflect the known association of asthma with Th2-oriented lymphocytic activity.

Nasal cellularity in 183 unselected schoolchildren aged 9 to 11 years.

OBJECTIVE: Although rhinitis is extremely frequent in children, methods for assessing the severity of nasal inflammation produce results with wide variability and hence weak clinical significance. We designed this epidemiologic investigation to define the clinical usefulness of assessing nasal cellularity in children. METHODS: We studied 183 of 203 eligible unselected schoolchildren who were aged 9 to 11 years and whose parents gave informed consent and completed a questionnaire on the history of atopic and respiratory symptoms. In all children, nasal swabs were obtained from both nostrils and eluted in saline and slides were prepared from cytospin preparations for staining and white cell counts. Children also underwent determination of nasal volume, skin prick tests with 7 common local allergens, flow volume curves, and nitric oxide measurement in expired air. Blood samples were drawn for the measurement of total immunoglobulin E, eosinophil percentage, and detection of Chlamydia pneumoniae antibodies. C pneumoniae DNA was also sought in eluates from nasal swabs. The percentage, standard deviations, and percentiles of the various nasal white cell populations were determined. RESULTS: No correlation of the percentage of these cells was found with the history of allergies or respiratory disease or with functional or laboratory finding. Repeat nasal swabs obtained 1 month after the initial examination in 31 children (20 with neutrophils higher and 11 lower than 14%) in 77.4% of the cases confirmed the previous (high or normal) result. Twelve of the 16 eligible children with persistently high nasal neutrophil counts completed a 15-day cycle of intranasal flunisolide therapy (200 micro g twice a day). Therapy significantly reduced nasal neutrophil percentage and increased nasal volume. CONCLUSIONS: Increased nasal neutrophils, although related neither to the clinical history nor to laboratory variables, are a common important finding in children. A 15-day cycle of intranasal flunisolide is sufficient to restore normal nasal neutrophilia.