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P Mustajoki

Publications and source records attributed to P Mustajoki.

At least 109 records · Page 6Linked to original sources
PubMed1981

Celiac disease or dermatitis herpetiformis in three patients with porphyria.

Celiac disease was diagnosed in one patient with variegate porphyria, and dermatitis herpetiformis in two patients, one with acute intermittent porphyria and the other with erythropoietic protoporphyria. The probability that celiac disease or dermatitis herpetiformis should occur in three patients with porphyria in Finland is less than 0.2%. Neither a consistent HLA pattern nor any other explanation can be offered for the association between these diseases.

Adult↗
PubMed1981

Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.

The diagnosis of acute intermittent porphyria was made in 10 members of a large kindred because of increased excretion of porphobilinogen and delta-aminolevulinic acid in the urine but normal fecal porphyrins. Erythrocyte uroporphyrinogen I synthase activity was normal in all nine subjects in whom it was measured. No hematologic or other cause was found that could secondarily have raised low activity to normal, suggesting that the porphyric subjects may have had no enzyme abnormality in their erythrocytes. On the other hand, in 49 other Finnish patients with acute intermittent porphyria who were unrelated to he kindred, erythrocyte uroporphyrinogen I synthase activity was low. In acute intermittent porphyria there may be two variants, in one of which the enzyme defect is not expressed in the erythrocytes.

Aminolevulinic Acid↗
PubMed1980

General anesthesia in "inducible" porphyrias.

To evaluate the risk of inducing acute symptoms after general anesthesia in patients with "inducible " porphyrias, the authors analyzed retrospectively the effects of 78 exposure to anesthesia in 47 patients, 33 with acute intermittent porphyria and 14 with variegate porphyria. On 62 occasions, 29 involving the use of a barbiturate, anesthesia was induced in 37 patients who had no porphyric symptoms at the time. None of these patients had an acute attack postoperatively. Anesthesia was induced 16 times in 14 patients during acute episodes; 12 of these patients also received precipitating drugs other than anesthetics. Porphyric symptoms worsened in seven in the ten patients who received thiopental and in two of the four who did not. In the latent stages of acute intermittent and variegate porphyria in this patient population, the risk of incurring symptoms after exposure to thiopental and/or other anesthetics was small. During an acute episode thiopental may aggravate porphyric symptoms.

Acute Disease↗
PubMed1980

Variegate porphyria. Twelve years' experience in Finland.

Fifty-seven patients with variegate porphyria belonging to nine families are described. The prevalence of variegate porphyria in Finland is 1.3 per 100 000. Eighteen patients had had acute attacks. During on average 5.7 years' follow-up only two of 48 patients had symptoms, which were temporary and acute. The length of life of 13 genealogically traced gene carriers who lived mostly during the 19th century did not differ from that of the general population. Skin fragility occurred in 45 per cent of the patients and was usually mild. No patients were sensitive to sunlight but seven of 14 tested reacted abnormally to artificial light. The characteristic increase in the excretion of faecal proto- and coproporphyrin was usually apparent even in the latent stage of porphyria, but increased excretion of urinary porphyrin precursors occurred only during an acute attack. However, in seven of 48 patients studied during the latent stage, faecal prophyrins were only slightly elevated or even normal, causing problems in diagnosis. Determination of faecal X-porphyrin was of no help in diagnosis. Red cell free protoporphyrin was significantly higher and serum haemopexin lower than in controls. Red cell uroporphyrinogen I synthase activity was normal in 17 of 18 patients studied. We conclude that variegate porphyria may be commoner than hiherto suspected; only half the patients in temperaure and cold climates have skin symptoms, the risk of developing an acute attack is low, and some adult patients excrete normal or only slightly abnormal amounts of porphyrin.

Acute Disease↗
PubMed1978

Variegate porphyria.

In temperate and cold climates the most usual presenting symptom of variegate porphyria is an acute porphyric attack, indistinguishable from that seen in acute intermittent porphyria. Increased fragility of the skin in sun-exposed areas occurs in only half of such patients, and even then is usually mild and easily overlooked. The diagnosis depends on fecal excretion of porphyrins, which is greatly increased in variegate porphyria and consists predominantly of protoporphyrin. Urinary excretion of porphobilinogen and delta-aminolevulinic acid increases only during acute attacks. There are reasons for thinking that variegate porphyria is commoner than hitherto supposed. During an acute attack a patient without skin symptoms may well be misdiagnosed as having acute intermittent porphyria, because of identical symptoms and excretion of porphobilinogen in the urine. Thus, for a correct diagnosis, every patient presenting with symptoms of acute porphyria requires a fecal analysis.

Acute Disease↗
PubMed1978

Permanent changes in the spines of military parachutists.

To investigate whether parachuting causes permanent changes in the spine, 50 military parachutists (mean number of jumps 490 per parachutist) and 50 matched controls were studied. In X-rays of parachutists and controls, the frequency of degenerative changes differed in the cervical spine (46 and 20%; p less than 0.01), and in the thoracic spine (62 and 28%; p less than 0.05) but not in the lumbar spine (44 to 36%; not significant). Parachutists suffered significantly more often from stiff neck, but the incidence of other neck and back symptoms was the same in the two groups. The increased frequency of degenerative changes in the spine in military parachutists is probably due to repeated traumata which parachutists sustain on landing and, possibly, during the training period before parachute jumps.

Adult↗
PubMed1976

Hereditary hepatic porphyrias in Finland.

The occurrence of hepatic porphyrias--acute intermittent porphyria (AIP) and variegate porphyria (VP)--in Finland has been studied. During a period of 9 years 107 patients with AIP and 45 patients with VP were found. The prevalence of hereditary hepatic porphyrias was calculated to be 3.4 per 100 000 inhabitants. The patients belonged to 42 different families. Eighty-nine patients (59%) had had acute attacks, whereas 63 were symptomless latent cases. Precipitating factors, symptoms and excretion of porphyrins and their precursors did not significantly differ from what has been reported earlier from other parts of the world. A slight fragility of the skin on the back of the hands was noted in some 50% of VP patients. Abnormal sensitivity to sunlight could not be seen in a single case. However, about 50% of patients with VP showed an abnormal reaction when irradiated with artificial ultraviolet light. The difference in the skin symptoms in South African and Finnish VP patients is discussed.

Adolescent↗
PubMed1976

Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.

Uroporphyrinogen I synthetase (URO-S) activity in red cells was measured in 49 patients with acute intermittent porphyria (AIP), in their relatives, in 16 patients with variegate porphyria, and in patients with various forms of anaemia. URO-S activity was clearly lower in patients with AIP (mean 30.5 U, SD 9.7) than in controls (mean 49.5 U, SD 6.4) and in patients with variegate porphyria. There was an overlapping of the values of controls and those of AIP patients, seven patients having fully normal values. Out of 63 relatives eight prepubertal children and two adults with normal urine analysis had URO-S activity below normal. Two newborn infants out of the five studied who had a prophyric parent had lowered URO-S activity in cord blood. URO-S activity was usually elevated in anaemias and correlated to the reticulocyte count. It is concluded that measurement of URO-S activity in red cells is a valuable supplementary method in searching for latent cases of AIP. It is the only method that can disclose the disease before puberty and even neonatally. The major limitation is the occurrence of normal values in some patients with AIP.

Acute Disease↗
PubMed1975

Neuropathy in latent hereditary hepatic porphyria.

Peripheral nerve conduction velocoties were measured in 20 patients with acute intermittent porphyria and five with variegate porphyria and in 25 controls matched for age and sex. None of the porphyric patients had acute symptoms on examination, and nine had never had symptoms. Compared with the controls, patients had a significantly slower conduction velocity of the slower motor fibres of the ulnar nerve (P less than 0-001) and a slower sensory conduction velocity of the ulnar and median nerves (P less than 0-05). There was no significant difference between the patients and controls in the maximum motor conductionvelocity of the median, ulnar, deep peroneal, or posterior tibial nerves. Slight peripheral neuropathy seems to be associated with latent hereditary hepatic porphyria, even in patients who have never had symptoms.

Adolescent↗