We report a unique case of a man suffering from chronic myelogenous leukaemia who presented with clinical symptoms, X-ray, and bronchoscopical findings consistant with a bronchopulmonary space-occupying process which was suspected to be a central lung carcinoma as a secondary de novo malignancy. In addition, the patient developed several subcutaneous nodular livid red lesions on the left forearm which were considered to be cutaneous metastases of the presumptive lung malignancy. Treatment was started with percutaneous radiation of the mediastinum over a period of ten days with a total dose of 25 Gray. The patient died from circulatory and respiratory failure. Only post mortem pathological examination was indicative of a nocardiosis of the lungs with haematological spread to eosophagus, pleura, and subcutaneous skin of the left forearm. Unfortunately, diagnosis of nocardiosis could not finally proven by culture or molecular biological methods. A lung carcinoma or an infiltrate of residual or relapsing chronic myelogenous leukemia in the lung could be definitely ruled out.

Diagnosis, Differential↗

PubMedDate not supplied

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.

OBJECTIVE: Primary myoadenylate deaminase deficiency (MADD) is probably the most frequent inborn metabolic myopathy with a prevalence of up to 2%. It is the result of mutations in the AMPDI gene, the most common of which is a C34-T transition in exon 2. The importance of the more rare mutation G468-T in exon 5 is uncertain. Primary objective was to elucidate the clinical significance of the enzyme disorder, which remains unclear since its first description in 1978. We further examined the existence of an association of MADD with other muscle disorders, such as malignant hyperthermia and rhabdomyolysis, as was suspected in earlier studies. MATERIAL AND METHODS: In a large collection of 1673 muscle biopsies that had been stored deep frozen we identified 33 cases of primary MADD, 12 of which without any other coinciding muscle diseases, by histochemical, biochemical and molecular genetic examinations. Clinical and laboratory data was collected. By additional examination of randomly chosen blood samples we identified one person carrying the rare compound heterozygosity C34-T/ G468-T, who was examined in clinical respects and a muscle biopsy was taken. RESULTS: As underlying mutation, the most common transition C34-T/C 143-T was detected in 33 cases. One patient carried the compound heterozygosity C34-T/G468-T. The overall frequency of MADD in the contingent was 1.8%. Only three patients out of 12 with isolated primary MADD suffered from muscle complaints, one of whom did not experience the typical symptoms of exercise related myalgia, muscle cramps and weakness as described by Fishbein. The patient carrying C34-T/G468-T was a fully healthy female. She had never experienced any muscle complaints. Any association with other neuromuscular disorders, if not completely ruled out, was found to be very unlikely. CONCLUSION: The results suggest that MADD itself is unlikely to be solely responsible for the manifestation of muscular symptoms. It is probable that either the loss of a compensation mechanism or coexistent disturbances in muscle metabolism which are unidentified so far are required for the emergence of complaints.

AMP Deaminase↗

PubMedDate not supplied

[Unusual suicide by gunshot wound to the head with a signal pistol].

The professional access to weapons plays a role in the choice of suicide instruments. Light and signalling ammunition is used by police forces, in the military, in sports, and professional navigation. An unusual suicide of a shipowner by means of a signal-pistol is presented. The signal cartridge was shot into the head. Penetrating the skull the cartridge entered the brain. The burning-out of the signal-set--taking about 10 seconds--initiated a flat-burning.--This case shows once more the dangerous misuse of light and signal ammunition.

Brain↗