Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) has been reported to be associated with vocal cord and diaphragmatic palsy. In order to address the prevalence of these complications in patients with GDAP1 mutations we evaluated vocal cord and respiratory function in nine patients from eight unrelated families with this disorder. Hoarseness of the voice and inability to speak loudly were reported by eight patients and one had associated symptoms of respiratory insufficiency. Patients were investigated by means of peripheral and phrenic nerve conduction studies, flexible laryngoscopy, pulmonary function studies and polysomnography. Nerve conduction velocities and pathological studies were compatible with axonal CMT (CMT2). Flexible laryngoscopy showed left vocal cord palsy in four cases, bilateral cord palsies in four cases and was normal in one case. Restrictive respiratory dysfunction was seen in the eight patients with vocal cord paresis who were all chair-bound. These eight had confirmed phrenic nerve dysfunction on neurophysiology evaluation. The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed. The early and predominant involvement of the left vocal cord innervated by the longer left recurrent laryngeal nerve suggests a length dependent pattern of nerve degeneration. In GDAP1 neuropathy, respiratory function should be thoroughly investigated because life expectancy can be compromised due to respiratory failure.

[Predictive value of chest X-ray and electrocardiographic abnormalities in patients with pulmonary embolism in relation to mortality and recurrences]. / Papel de las alteraciones radiográficas y del electrocardiograma en la predicción de mortalidad y recidivas en pacientes con embolia de pulmón.

BACKGROUND AND OBJECTIVE: Radiological and electrocardiographic (EKG) abnormalities are very frequent in patients with pulmonary embolism (PE). Our main objective was to evaluate, in patients with PE, whether any of those abnormalities was correlated with an increased risk of relapses or mortality until 3 months after the acute episode. PATIENTS AND METHOD: Multicenter observational study of patients included in the Venous Thromboembolic Disease Register (RIETE). Demographic, clinical, radiological and EKG data were collected from all patients. Statistics was made with the Pearson correlation and multiple linear regression analysis. RESULTS: We found a significant but non determinant association between mortality and the presence of radiological and/or EKG abnormalities and no relation between them and relapses of PE. CONCLUSIONS: Radiological or EKG manifestations could not predict relapses or mortality 3 months after PE in our patients.

[Usefulness of basic tests in patients with pulmonary embolism]. / Utilidad de las pruebas básicas en el paciente con embolia pulmonar.

There are common, specific noninvasive and invasive tests for the diagnosis of pulmonary embolism (PE). Arterial blood gases, lung radiography and electrocardiography belong to the first group and should be performed in patients with suspected PE. Among the second group, D-dimer determination is essential. Ventilation-perfusion scintigraphy was formerly the most frequently used test but has been relegated to a second-line position by the development of multislice computed tomography (CT) angiography, which provides the possibility of simultaneously studying the lower limbs to detect deep venous thrombosis (DVT). SPECT and magnetic resonance imaging can be used as an alternative to multislice CT angiography, but there is less experience with these techniques. Transthoracic echocardiography has, above all, predictive value and lower limb ultrasonography is the most common non-invasive method to detect DVT. Invasive tests, the gold standard, are often unavailable and their use is therefore limited to selected patients. In conclusion, noninvasive management (clinical probability, D-dimer and multislice CT) is feasible in most patients with suspected PE.

[Early complications in patients with pulmonary embolism]. / Complicaciones precoces en pacientes con embolia de pulmón.

BACKGROUND AND OBJECTIVE: Mortality, recurrences and hemorrhages are the most serious early complications of pulmonary embolism (PE). We intended to ascertain the frequency and mechanisms of complications within the first 10 days after PE was diagnosed. PATIENTS AND METHOD: We included patients suspected of suffering PE between December 2003 and August 2004 from 8 hospitals. We performed a multicenter observational prospective study of 8 Spanish hospitals with consecutive outpatients diagnosed with PE. Database of clinical variables: computerized Registry of Patients with Venous Thromboembolism (RIETE). Statistic analysis included chi2 and Student's t test to compare the 2 groups of patients (with and without complications). RESULTS: Six hundred eighty one patients were included, 336 men and 345 women (mean age 66 and 70, respectively). During the first 10 days, 33 (4.8%) of them died, and 22 (3.2%) had an hemorrhage yet no recurrences appeared. Previous immobilization and the presence of respiratory failure, cancer or renal failure were significantly associated with early complications while previous surgery and thoracic pain were not associated with those. CONCLUSIONS: Early complications and some of the associated factors were in agreement with published data. Other situations such as previous surgery or thoracic pain appeared to be protective factors.