Autosomal recessive distal dystrophy

We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.     

Physiological analysis of simple rapid movements in patients with cerebellar deficits.

Patients with cerebellar deficits made elbow flexion movements as rapidly as possible for three different angular distances. Electromyographic activity of biceps and triceps and the kinematics of the movements were analysed. Results were compared with those of normal subjects making both rapid and slow movements. In the patients, the first agonist burst of the biceps was frequently prolonged regardless of the distance or speed of the movement. The most striking kinematic abnormality was prolonged acceleration time. The pattern of acceleration time exceeding deceleration time was common in patients but uncommon in normal subjects. The best kinematic correlate of the duration of the first agonist burst was acceleration time. Altered production of appropriate acceleration may therefore be an important abnormality in cerebellar dysfunction for attempted rapid voluntary movements.     

The role of neck dissection in the eradication of salivary carcinomas]

From 1955 to 1984, radical neck dissection (RND) had been done in 300 salivary carcinoma patients, 114 of which had regional lymph node metastasis, with a 38% metastatic rate. Respective 3, 5, 10, 15, 20 year survival rates were 76, 64, 47, 35, 35% in a 3 to 20 years follow-up study in 283 patients (94.33%). The following four points are concluded: 1. The metastatic rate is determined not only on tumor staging, but more to its typing (pathologic behaviour). 2. Elective RND gave a better prognosis than therapeutic and negative metastasis has a better survival chance than positive where the low level metastasis is the worst. 3. According to pathologic typing, Elective RND is indicated for undifferentiated adenocarcinoma, high malignant mucoepidermoid carcinoma, squamous cell carcinoma, adenocarcinoma and papillary cystic adenocarcinoma, therapeutic RND for malignant pleomorphic adenoma, acinic cell carcinoma and mucoepidermoid carcinoma. 4. Unilateral RND is indicated for all but sublingual and buccal tumors.     

A single myocardial stretch or decreased systolic fiber shortening stimulates the expression of heat shock protein 70 in the isolated, erythrocyte-perfused rabbit heart.

The regulation of heat shock protein 70 (HSP 70) expression was examined in the isolated, red blood cell-perfused rabbit heart by Northern and Western blot analysis. In the isovolumic (balloon in left ventricle), isolated perfused heart, HSP 70 mRNA was increased threefold after 30 min and sevenfold at 2 and 4 h compared to normal, nonperfused hearts. To further elucidate the etiology of the increase in HSP 70 mRNA, the effects of decreased systolic shortening (isovolumic heart) and of a single ventricular stretch were examined. Perfusion without the application of a stretch or the presence of a balloon resulted in no increase in HSP 70 mRNA; while a single stretch resulted in a threefold increase in HSP 70 mRNA. These changes were accompanied by an increase in HSP 70 protein by Western blot analysis. To elucidate the signalling mechanism mediating the increase in HSP 70, hearts were perfused with H7, a protein kinase C inhibitor. H7 did not prevent the induction of HSP 70. These results indicate that initiation of expression of myocardial HSP 70 can be stimulated by a single myocardial stretch or by prevention of systolic shortening. These mechanisms may contribute to the rapid expression of HSP 70 after coronary occlusion when dyskinesis, reduced systolic shortening, and increased diastolic segment length all occur.     

Role of dopamine receptors in the occurrence of the behavioral motor disturbances in rats exposed to high pressure.

When human divers and experimental animals are exposed to an increasing environmental pressure, they develop the high pressure neurological syndrome (HPNS) characterized by electroencephalographic changes and sleep and behavioral disturbances. In rats, behavioral disturbances essentially include hyperlocomotor activity (HLA), tremor and myoclonia. Moreover, HLA has recently been demonstrated to be linked to a pressure-induced striatal increase of dopamine (DA). In these experiments, it was proposed to investigate in rats, at the behavioral level, the role of DA receptors in the occurrence of the pressure-induced DA disturbances. DA receptor agonists were found to induce no significant changes in the development of HLA, tremor, and myoclonia. Alternatively, HLA was found to be dramatically antagonized by the use of DA receptor antagonists (SCH 23390, sulpiride, and haloperidol), while tremor and myoclonia only decreased in SCH 23390 experiments.     

Detection of mucus glycoconjugates in human conjunctiva by using the lectin colloidal gold technique in TEM. I. A quantitative study in normal subjects

We applied a specific cytochemical reaction to characterize the glycoconjugates produced by goblet and non-goblet epithelial cells of normal human conjunctiva. For this purpose we utilized the lectins, proteins of vegetal origin, which are extremely sensitive in binding glycosidic residues. In particular, we used WGA, PNA, SBA and ConA conjugated with colloidal gold as ultrastructural marker for Transmission Electron Microscopy. This technique allowed us also to perform a quantitative analysis, by counting colloidal gold particles present on mucus granules. In this way we analyzed the content both of goblet and non-goblet epithelial cells. In the former, WGA, PNA, SBA and ConA receptors, here reported in decreasing density, were present. In the latter WGA was always positive, SBA and PNA sometimes were negative, ConA was always negative. We speculate the different contribution to mucus production by these two sources may be important in evaluating tear film stability alterations occurring in those diseases in which non-goblet epithelial cell vesicles increase.     

Diamine oxidase as a marker of intestinal integrity in acute appendicitis

In the operative treatment of appendicitis the so called negative appendectomy is an important issue because of its increased morbidity. From the hypothesis that the intestinal diamine oxidase activity is a suitable marker of mucosal integrity, the distribution pattern of the enzyme in appendices histologically classified as inflamed or not inflamed was studied. Histologically apparent inflammation of the appendix was connected with a significant reduction of diamine oxidase activity. The determination of this enzymic activity may be a simple and sensitive test for mucosal inflammation of the appendix even at a very early state. This could reduce the rate of negative appendectomies and influence thereby risk-cost-benefit calculations.