scholarly journals Skeletal muscle involvement in patients with chronic alcoholic intoxication

2013 ◽  
Vol 0 (1) ◽  
pp. 39 ◽  
Author(s):  
Olga Evgenyevna Zinovyeva ◽  
N S Shcheglova ◽  
Y V Kazantseva ◽  
B S Shenkman ◽  
E G Altayeva
1994 ◽  
Vol 17 (8) ◽  
pp. 923-930 ◽  
Author(s):  
Alberto Alain Gabbai ◽  
Clayton A. Wiley ◽  
Acary S. B. Oliveira ◽  
Ricardo Smith ◽  
Beny Schmidt ◽  
...  

2001 ◽  
Vol 11 (3) ◽  
pp. 217-221 ◽  
Author(s):  
Elisabeth Hartl ◽  
Josef Finsterer ◽  
Carmen Grossegger ◽  
Alois Kroiss ◽  
Claudia Stöllberger

2003 ◽  
Vol 7 (6) ◽  
pp. 401-406 ◽  
Author(s):  
Zarazuela Zolkipli ◽  
Cheryl Longman ◽  
Sue Brown ◽  
Nazneen Rahman ◽  
S.E Holder ◽  
...  

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012542
Author(s):  
Shahar Shelly ◽  
Niaz Talha ◽  
Naveen L Pereira ◽  
Andrew G. Engel ◽  
Jonathan N Johnson ◽  
...  

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.


1962 ◽  
Vol 40 (8) ◽  
pp. 975-981 ◽  
Author(s):  
H. Kalant ◽  
Caroline Czaja

Groups of adult male and female albino rats received daily gavage of 1.25 ml of water or of 20% ethanol per 100 g body weight for a period of 1 month, and were killed either 1.5 hours or 24 hours after the last dose. Such daily treatment with either water or alcohol, ending 24 hours before death, did not result in any significant change from control values in the relative weight of the adrenal glands, or their ascorbic acid and cholesterol contents. No changes in these values were found in animals which received an additional dose of water or alcohol 1.5 hours before death. The female rats showed lower values for adrenal ascorbic acid content than the males in corresponding groups, but did not differ from the males with respect to the effects of the various treatments. A similar experiment with male rats only, carried on for 2 months, also showed no significant differences among any of the treatment groups.Measurements of the degree of intoxication produced by single doses of ethanol were carried out by means of the inclined-plane test. Intraperitoneal injection of 2 g/kg produced much more rapid and marked intoxication than did gavage with either 2 or 4 g/kg.It was concluded that daily gavage for 1-2 months with ethanol in a moderately intoxicating dose (2 g/kg) does not constitute a stimulus to adrenal cortical activity or result in exhaustion atrophy of the adrenal cortex, and that adrenal cortical stimulation is not an invariable accompaniment of acute or chronic alcoholic intoxication.


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