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Objective: To contribute to an early diagnosis of pulmonary involvement in scleroderma by evaluating the correlation between respiratory symptoms and functional respiratory data observed., Patients and Methods: 86 patients affected by scleroderma, 76 women and 10 men, age 14-75, underwent lung function tests, blood gas sample, CO diffusing capacity in setting and supine position, respiratory drive measurement through P0.1 and evaluation of the respiratory muscles efficiency with Maximum Inspiratory Pressure (MIP)., Results: Data obtained suggested us to divide our patients in four different groups: first group where both spirometric data and pulmonary diffusion were normal; a second group with a clear reduction of pulmonary diffusion likely due to the reduction of vascular bed; a third group where we observed a restrictive ventilatory impairment due to the reduction of the compliance and a reduction of the pulmonary diffusion likely related to interstitial damage; finally, a fourth group where beside a restricted spirometric outline we have detected a more accentuated reduction of pulmonary diffusion likely due to pulmonary hypertension. Moreover, our study has highlighted a progressive decrease of MIP and Maximum Voluntary Ventilation (MVV) shifting from the first to the fourth group, suggesting reduction of the muscular efficiency with an increase of P0.1 index of activity in the respiratory drive., Conclusions: The results could explain the dyspnea often reported by the patients affected by scleroderma even without spirometric alteration.

Twelve to twenty-five percent of human population suffer from sleep disorders and sleep-related breathing disorders have a frequency of 5-10%. The association between sleep-related breathing disorders and several diseases, mainly cardiovascular and dysmetabolic, is well known. The aim of this study was to assess the prevalence of this association in a group of 620 patients, aged between 18 and 78 years and referred to the Laboratory of Respiratory Pathophysiology of the Umberto I Hospital of Rome. All patients had a clinical history of a sleep-related breathing disorder and answered a specific questionnaire. One-hundred-and-thirty-seven patients (120 males and 17 females, mean age 64 years), whose questionnaire was suggestive of a sleep-related breathing disorder, underwent clinical assessment including blood tests, lung function tests, blood-gas analysis, ECG and nocturnal polysomnography, either as in- or as out-patients. The main associated pathologies were: arterial hypertension (54.7%), chronic obstructive pulmonary disease (17.9%), obesity (63.1%), dyslipidemia (41%), type 2 diabetes mellitus (6.3%), gastroesophageal reflux (27.3%) and cardiac arrhythmias (4.2%); 95 patients with obstructive sleep apnea syndrome were treated, on the basis of the polysomnography outcomes and according to the Italian Association of Sleep Medicine Guidelines, either with preventive strategies for risk factor reduction, or with medical (positive pressure ventilation, oxygen, assessment of the best drug medication) and/or ear, nose end throat surgical therapies. In most patients, the improvement in the sleep-related breathing disorder was associated with an improvement in their systemic pathology, in particular cardiovascular disease, suggesting the need of a deeper consideration and comprehension of nocturnal apneas.

The Authors, on the ground of the literature and of their own observations, stress the diagnostic non specificity of hypotrophic facio-scapulo-humeral syndromes: these sindromes, contrary to the current opinion, aren't always of primitive myodistrophic nature but may also be "neurogenic", inflammatory, collagenopathis, etc. In this connection they present an illustrative case of facio-scapulo-humeral syndrome which had clinical features typically "myogenic" but turned out to be "neurogenic" after electromyographic and histochemical investigation.

On the light of previous reports on a possible correlation between echinocytogenesis and primitive muscular dystrophies, we have investigated the presence and time dependent development of echinocytes in the blood of normal subjects, patients and healthy carriers of D.M.D. A very few echinocytes are present in the fresh blood of all the patients and some carriers, but not in the blood of control normal subjects. With time, more echinocytes develop in all cases but much more markedly for sick people and carriers. These results might explain conflicting data on the echinocyte content in the blood reported in the literatura and provide a guideline for a correct analysis of the phenomenon and its possible relevance in the eugenetic diagnosis of carriers.

A case of idiopathic unilateral (left) idiopatic basal ganglia calcification with associated extrapiramidal controlateral symptoms is described. The patient, a 20 years old man, showed since childhood a progressive motor impairment of his right limbs more obvious in his arms. Neurological examination showed hypertonia, distonia, motor and other extrapiramidal impairments of his right limbs. Skull X Ray and CT scan revealed left basal ganglia calcification. Laboratory investigations excluded all the common diseases with basal ganglia calcifications: tumors, tiroid and paratiroid disorders, parassites, vascular, inflammatory or degenerative diseases. Psycodiagnostic tests did not reveal relevant abnormalities. We cannot say with certainty that this is a sporadic case as we were unable to examine the whole family. Slight improvement of symptoms was obtained using orfenadrine and diazepam.

The AA., after a review cases of girls suffering from a muscular dystrophy like Duchenne, present two cases that they think to set in the same nosographical context. Even though they admit its extreme rarity and the possiblility that many cases previously published are controversial, they accept that Duchenne myodistrophic syndromes certainly occur in girls, even if their substantial nature remain uncertain.

The Authors present two cases of unilateral and bilateral lesions of the femoral nerve and emphasize the frequency, the characteristics, the mechanisms and the course of such lesions.

The Authors, after a brief review of the factors which influence the echino and stomatocytic erythrocyte's deformations and of the biochemical basis of these alterations, report the comparative study of the echino-stomatocytogenesis in both normal subjects and myodystrophic patients. In order to investigate whether this phenomenon is more developed in pathological condition, the results confirm that between normal subjects and myodystrophic patients or healthy carriers there is a quantitative significant difference which can be utilized for diagnostic and eugenic purposes. To obtain reliable results, the evaluation should be made at regular intervals of time from the blood drawing and after the exclusion of the presence of other disease or echino-stomatocytogenetic factors (drugs, etc.).