Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Further observations on a family with facioscapulohumeral (FSH) muscular dystrophy due to mitochondrial myopathy, and on a case with lipid storage myopathy are reported. One member of the family with FSH muscular dystrophy died due to a viral pneumonia, during which she developed gross hyperlacticacidaemia and acidosis. Autopsy examination showed that the mitochondrial morphological abnormality was restricted to the skeletal muscle. Two other members of the family, who also had mitochondrial myopathy, have developed a cerebellar syndrome. The skeletal muscle carnitine level in the propositus of this family was normal. A woman with lipid storage myopathy has been shown to have skeletal muscle carnitine deficiency, the plasma carnitine level being only slightly lower than normal.
 ...
PMID:Further studies of mitochondrial and lipid storage myopathies. 63 30

We describe the epidemiology, clinical features, radiological findings, therapy and course for 15 patients hospitalized at the Infectious Diseases UOC of Gravina Hospital Caltagirone for a serious respiratory condition with verified infection A (H1N1) from 9 November to 22 December 2009. We retrospectively reviewed medical records, laboratory and instrumental tests performed on hospitalized patients. All patients had significant respiratory impairment: nine had co-morbidities and risk factors such as obesity, pregnancy, immunosuppressant conditions and muscular dystrophy. Symptoms were similar to those of seasonal influenza; radiological investigation of the chest (RX and CT) presents lung involvement in 80% of patients and changes in the bio-humoral indices. Development into acute respiratory distress syndrome (ARDS) was observed in six patients: three were ventilated with a Venturi mask, three were treated in intensive care and two patients used extracorporeal membrane oxygenation (ECMO). Two died. All patients received antiviral and symptomatic therapy for 5-21 days. A(H1N1) virus infection led to a mild to moderate flu syndrome, which was often cured by symptomatic treatment; some patients required hospitalization for viral pneumonia, mixed pneumonia or ARDS. In previous flu epidemics there was no development into ARDS (40% in our series).
 ...
PMID:[Pulmonary complications from pandemic AH1N1 influenza: clinical-radiological features]. 2147 43