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PubMed1995

[Prognosis for myotonic dystrophy].

Although the genetic basis of myotonic dystrophy (MD) has recently been clarified, data on prognosis and causes of death are few. To assess the relation between the age of onset and the degree to which activities of daily living (ADL) were affected, we studied statistically 586 patients with MD, who were registered in the database in hospitals of Japan in 1985. Many of the young onset patients had a long duration of illness, and many of the long-term patients showed the more severely affected ADL. When we adjusted the duration of illness, using the Mantel extension method, many patients whose age of onset was older had poorer ADL than the younger onset ones. To clarify the causes of death in MD, we collected data on 72 patients who succumbed to it from answers to questionnaires sent to all councilors of the Japanese Society of Neurology and the Japanese Society of Child Neurology in 1994. Before their deaths, among 32 MD cases unable to sit up, 16 (50%) died from respiratory involvement (respiratory failure and pneumonia), 8 (25%) from dysphagia (i.e., aspiration pneumonia and choking) and 2 (6%) from cardiac involvement. Moreover, among 25 cases that could sit up, 9 cases (36%) died from dysphagia, 4 (15%) from respiratory involvement and 2 (8%) from cardiac involvement. Dysphagia and cardiac involvement are often the causes of death in the early stage. To avoid these complications, management of swallowing and careful cardiac control is essential in patients with MD.

Activities of Daily Living↗
PubMed1987

Crohn's disease with respiratory tract involvement.

Symptomatic respiratory tract involvement with granulomatous bronchial lesions has not yet been described in Crohn's disease. We report two patients with colonic Crohn's disease and severe respiratory symptoms (dyspnoea associated in one of the patients with voicelessness); erythema, aphthoid and superficial ulcerations were found in the colon and whitish granulations in the bronchi at endoscopy. Non-caseating tuberculoid granulomas were found in the colonic mucosa of both patients, as well as in the bronchial mucosa of one of them; in the second a diffuse inflammatory infiltrate including epithelioid cells was found underneath an erosion of bronchial epithelium. Both patients improved on oral prednisone. These two patients probably had bronchial involvement by Crohn's disease.

Adolescent↗
PubMed1999

Respiratory muscle involvement in multiple sclerosis.

Respiratory complications are common in the terminal stages of multiple sclerosis and contribute to mortality in these patients. When respiratory motor pathways are involved, respiratory muscle weakness frequently occurs. Although it is well established that weakness of the respiratory muscles produces a restrictive ventilatory defect, the degree of muscle weakness and pulmonary function are poorly related. Respiratory muscle weakness was observed in patients with normal or near normal pulmonary function. Expiratory muscle weakness is more prominent than inspiratory muscle weakness and may impair performance of coughing. Subsequently, in addition to bulbar dysfunction, respiratory muscle weakness may contribute to ineffective coughing, pneumonia, and sometimes even acute ventilatory failure may ensue. Respiratory muscle weakness may also occur early in the course of the disease. Recent studies suggest that the respiratory muscles can be trained for both strength and endurance in multiple sclerosis patients. Whether respiratory muscle training delays the development of respiratory dysfunction and subsequently improves exercise capacity and cough efficacy, prevents pulmonary complications or prolongs survival in the long-term remains to be determined.

Humans↗
PubMed1950

Treatment of poliomyelitis with involvement of the respiratory system.

The mortality rate of poliomyelitis may be reduced by early measures to prevent anoxia and its subsequent complications. Constant nursing care, early tracheotomy, the giving of oxygen, proper use of the respirator and positive pressure equipment are essential in the proper management of patients with poliomyelitis who have respiratory involvement.

Humans↗
PubMedDate not supplied

Respiratory system involvement in systemic vasculitides.

The respiratory system may be involved in all systemic vasculitides (SV), although with a variable frequency. Lung disease is a very common and important feature of the antineutrophil cytoplasmic antibodies (ANCA)-associated SV (AASV), such as Wegener's granulomatosis (WG), Churg-Strauss syndrome (CSS), and microscopic polyangiitis (MPA). In WG, almost all patients have either upper airway or lower respiratory tract disease. Solitary or multiple nodules and masses are the most common findings on chest radiograph. Asthma is a cardinal symptom of CSS, often preceded by allergic rhinitis, frequently complicated by nasal polyposis and sinusitis. Pulmonary transient and patchy alveolar infiltrates are the most common radiographic findings. In MPA, diffuse alveolar hemorrhage (DAH) due to alveolar capillaritis is the most frequent manifestation of the respiratory involvement, clinically expressing with hemoptysis, respiratory distress and anemia. However, DAH may be subclinical and has to be suspected when chest radiograph demonstrates new unexplained bilateral alveolar infiltrates, in the face of falling hemoglobin levels. In giant cell arteritis, the most frequent respiratory symptom is cough, usually non-productive, persistent, and responsive to corticosteroids. In Takayasu arteritis, pulmonary involvement is frequently subclinical and detectable by non-invasive techniques. Pulmonary involvement is rare in polyarteritis nodosa, Kawasaki disease, Henoch-Schönlein purpura and cryoglobulinemic vasculitis. In conclusion, the involvement of the respiratory system is a very common and important feature of AASV, whereas is less frequent in other SV. It comprises a wide spectrum of clinical features and radiological findings, and may have a prognostic significance. The assessment of the respiratory system should be included in the work-up of all patients with SV, especially of those with AASV.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed1995

Involvement of respiratory muscles in adult-onset dystonia: a clinical and electrophysiological study.

Involvement of respiratory muscles is unusual in dystonia, but its occurrence may be underestimated either because it is not conspicuous or because it is improperly imputed to another cause. Three patients who had adult-onset dystonia and who were exhibiting respiratory problems were examined clinically and electrophysiologically. In the three patients the onset was focal-cervical in two and blepharospasm in one. The respiratory problems appeared later. The first patient had involuntary deep and loud inspirations combined with spasms of axial dystonia, the second complained of breathing arrests, and the third had deep inspirations mainly on speaking or reading aloud, thus causing broken speech. Electromyographic findings, including of the diaphragm, were quite consistent with a respiratory involvement in these three cases of dystonia. Assuming that respiratory troubles could be in the first sign of a focal dystonia, electrophysiological studies of respiratory muscles could be used to confirm this.

Administration, Oral↗
PubMed1997

Fatal GVHD demonstrating an involvement of respiratory muscle following donor leukocyte transfusion (DLT).

A 41-year-old female patient with AML, who relapsed after an allogeneic BMT from her HLA-identical sister, was treated by a donor leukocyte transfusion (DLT). Thereafter, bone marrow aplasia accompanied by the disappearance of leukemic blasts following the GVHD was observed. The patient died of chronic GVHD with respiratory muscle involvement 19 months after the DLT. Although the DLT was considered helpful in suppressing the proliferation of the leukemic cells, it might also have caused the severe GVHD observed in this case. Efforts to separate the lymphocyte clones responsible for GVL from those for the GVHD thus appear to be necessary for the further development of the therapeutic approach, so-called DLT.

Adult↗
PubMed2005

Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis.

Xanthoma disseminatum (XD) is a rare normolipemic mucocutaneous xanthomatosis due to the proliferation of non-x histiocytes. Occasional involvement of the upper respiratory system has been reported, but lower respiratory tract involvement is very rare. Here, we present a child with severe involvement of the upper and lower respiratory tract by XD and bronchiectasis in the lower lobes of both lungs. The patient was an 8-year-old boy who was admitted to our hospital because of red-brown papules which developed on the skin and progressive dyspnea. He was diagnosed as having XD by skin biopsy. Physical examination revealed disseminated, numerous yellow-reddish brown papular xanthomas on the forehead and eyelids, around the neck and axillary area, and in the oral cavity and pharynx. He had respiratory distress and clubbing of the fingers. Chest x-rays showed hyperaeration and segmental atelectasis. High-resolution CT of the thorax revealed diffuse thickening of the whole tracheal and bronchial wall, and bronchiectasis in the lower lobes. Flexible fiberoptic bronchoscopy revealed numerous xanthomatous lesions in the nasal cavity, nasopharynx, oropharynx, subglottic area, trachea, bifurcation, both main bronchi, and smaller bronchi. To the best of our knowledge, this is the first report of a child with typical lesions of XD with severe involvement of the lower respiratory tract and bronchiectasis.

Bronchiectasis↗
PubMed2005

Sarcoidosis with upper respiratory tract involvement.

The aim of the study was to investigate the upper respiratory tract as a site of extrapulmonary sarcoidosis. Diagnosis of sarcoidosis with upper respiratory tract involvement was performed on the basis of clinical, laboratory, radiographic and histological evidence and by excluding other granulomatous diseases in eight patients followed by the Sarcoidosis Regional Reference Centre pneumologists in collaboration with an experienced ENT specialist at Siena University. In five cases, sarcoidosis was localized in the parotid glands, in the other three subjects larynx, nasopharynx and nose were involved. In four patients parotid gland, nasopharynx and upper respiratory tract mucous membrane involvement was the only clinical manifestation at onset of the disease. Upper respiratory tract involvement should be suspected in all patients with systemic sarcoidosis and in patients with persistent upper respiratory tract symptoms of unknown cause. What a general practitioner should do as not to miss SURT is underlined. Interdisciplinary management and collaboration are of paramount importance for rapid diagnosis and to avoid the possible complications of this form.

Adult↗
PubMed1989

Location of respiratory motoneurons involved in phonation. An HRP study in the squirrel monkey.

In 11 squirrel monkeys (Saimiri sciureus) the motoneuronal distribution of those muscles being involved in the respiratory component of phonation, that is the Mm. obliquus externus and internus, rectus and transversus abdominis, intercostalis externus and internus, and intercartilagineus, were studied with the horseradish peroxidase retrograde tracing technique. It was found that the spinal representations of the abdominal muscles overlap to a large extent. Motoneurons of all four abdominal muscles were found in the lateral, central, medial, ventral as well as dorsal part of the ventral horn, with a clear dominance of the lateral and central positions, however. Marked differences occurred with respect to the rostro-caudal distribution. While rectus motoneurons occupied up to 16 spinal segments, obliquus internus and transversus motoneurons occupied only 9, obliquus externus 14. Furthermore, the density of motoneurons in the different segments showed quite dramatic changes in the case of the obliquus externus and transversus, was relatively constant in the rectus, and formed a single sharp peak in the obliquus internus. The motoneuronal distribution of the intercostal and intercartilaginous muscles showed less overlap than that of the abdominal muscles. Intercostalis internus motoneurons were mainly found laterally in the ventral horn, intercartilagineus motoneurons laterally and centrally, intercostalis externus motoneurons laterally and medially. The intercartilagineus muscle of a specific inter costal space was found to be innervated from 1 to 2 spinal segments, the intercostalis internus from 2, the intercostalis externus from 2 to 3. As all muscles participating in the respiratory component of phonation have a spinal representation in the lateral ventral horn of the lower thoracic cord, this area is proposed to play a crucial role in vocal production.

Animals↗
PubMed2005

Respiratory system involvement in ANCA-associated systemic vasculitides.

BACKGROUND AND AIM OF THE WORK: The respiratory system may be involved in all systemic vasculitides (SV), although with a variable frequency. Lung disease is a very common and important feature of the antineutrophil cytoplasmic antibodies (ANCA)-associated SV (AASV), such as Wegener's granulomatosis (WG), Churg-Strauss syndrome (CSS), and microscopic polyangiitis (MPA). The aim of the work is to review the clinical findings, as well as the radiological and pathological features of respiratory system involvement in AASV. METHODS: A detailed search via the PubMed index from the National Library of Medicine, covering the period from 1980 to December 2004, was accomplished. RESULTS: In WG, almost all patients have either upper airway or lower respiratory tract disease. Solitary or multiple nodules and masses are the most common findings on chest radiograph. Asthma is a main symptom of CSS, often preceded by allergic rhinitis, frequently complicated by nasal polyposis and sinusitis. Pulmonary transient and patchy alveolar infiltrates are the most common radiographic findings. In MPA, diffuse alveolar haemorrhage (DAH) due to alveolar capillaritis is the most frequent manifestation of the respiratory involvement, clinically expressing with haemoptysis, respiratory distress and anaemia. CONCLUSIONS: The involvement of the respiratory system is a very common and important feature of AASV. There is substantial overlap in many of the clinical pulmonary features of AASV. In some cases, distinguishing between these diseases on the basis of the clinical features alone is difficult and pathological assessment is needed.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed2006

Upper respiratory tract involvement of sarcoidosis in the Turkish population.

PRINCIPLES AND METHODS: Upper respiratory tract (URT) involvement is rare in sarcoidosis. In this descriptive study, we retrospectively evaluated the clinical and demographic features of 12 (2.19%) patients with URT involvement out of the 546 sarcoidosis patients with follow-up visits at our center within the last 40-year period. RESULTS: Out of the 546 patients, 12 (2.19%) had upper respiratory tract involvement, 5 (0.91%) had laryngeal involvement, 4 (0.73%) had sinonasal tract involvement, 2 (0.36) patients had salivary gland involvement, and 1 patient had tonsillary involvement. The number of stage 0 subjects among other sarcoidosis patients was significantly lower than that among those with URT involvement. CONCLUSIONS: URT involvement is rarely diagnosed in patients with systemic sarcoidosis. The most common site for URT involvement among the Turkish population is the larynx, followed by the sinonasal tract. EBM RATING: C-4.

Adult↗
PubMed2006

Cardiac and pulmonary investigations in Bethlem myopathy.

BACKGROUND: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. OBJECTIVE: To investigate cardiac and respiratory involvement in Bethlem myopathy. DESIGN: Cross-sectional study. SETTING: University hospitals. Patients Fifty patients with Bethlem myopathy from 26 families. INTERVENTIONS: Cardiac examinations, including electrocardiography and echocardiography (n = 37) and pulmonary investigations (n = 43). Holter monitoring was performed in 16 patients. MAIN OUTCOME MEASURES: Cardiac and respiratory abnormalities. RESULTS: Several cardiac abnormalities were found that were considered unrelated to the muscular disorder. Seven (16%) of 43 patients had a forced vital capacity less than 70% of the predicted value. One of 2 patients with a forced vital capacity less than 50% was also receiving respiratory support. All patients with compromised respiratory function were still ambulatory, and we found no significant correlation between the severity of arm weakness and the severity of respiratory muscle involvement. CONCLUSIONS: There is no evidence of cardiac involvement in Bethlem myopathy. Respiratory failure is part of the clinical spectrum and can occur in ambulatory patients.

Adult↗