Alpha 1-antitrypsin phenotypes in rheumatoid arthritis.
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Biomedical subjects
Publications and source records attributed to H Rantala.
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A girl with Rett's syndrome and renovascular hypertension because of a stenosis in the right renal artery is described. The girl was operated on twice because of the stenosis. Her blood pressure normalized after the second operation in which the artery was reconstructed. High blood pressure causes neurological symptoms which may be difficult to distinguish from the basic disease. The importance of the measurement of blood pressure in every child with neurological symptoms is emphasized. The possibility of an association between renovascular hypertension and Rett's syndrome should be studied in large series.
A hypophyseal adenoma was operated on in a patient who was a carrier of Salmonella typhimurium. A chronic salmonella osteitis developed in her calvarium at the site of operation. Our case and reported experience emphasise that asymptomatic carriers of salmonella should be given perioperative antibiotic prophylaxis, especially if they are immunosuppressed.
Severe emphysema is reported in a patient with Salla disease, a recessively inherited disorder of sialic acid metabolism that leads to intralysosomal accumulation of free sialic acid in cells of various tissues. The disease is among the rare genetically determined diseases typical of the Finnish population. The patient was 41 yr old at the time of his death. He had been a nonsmoker with no evidence of alpha-1-antitrypsin deficiency. Chest radiographs suggested that severe emphysema had developed during the last 4.5 yr of his life. Emphysema was also documented by postmortem radiography, which showed it to be located mainly in the lower lobes. The uneven distribution of tissue destruction within individual lobules, as shown in histologic sections, indicated a centrilobular type of emphysema, which was probably related to the basic storage disease. Thus, some involvement of storage lysosomes in altering the functioning of pulmonary macrophages is suspected. The serum proteinase inhibitory capacity as well as the alpha-1-antitrypsin phenotypes were normal among 5 brothers and sisters of the patient, 1 of whom was affected by the disease. The exact pathogenetic mechanism(s) for the rapid development of severe emphysema in this rare case of Salla disease remains unclear.
This study presents the main clinical and electrophysiological features of patients with Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) in Northern Finland diagnosed during the period 1969-1983. The group consists of 40 patients aged between 5 and 74 years. A positive family history suggesting a dominant inheritance was seen in 23 patients--the rest were classified as sporadic. According to median or sural nerve conduction velocities the disease was graded as demyelinating (HMSN type I) and neuronal (HMSN type II). A clear tendency towards an earlier onset was seen in type I cases compared to those in type II. Both clinically and neurophysiologically the lower arms were more severely affected in type I than in type II. Muscular atrophy of the legs occurred more often in type I than in type II. Electromyographic abnormalities were characteristically neurogenic, though in some advanced cases small motor unit potentials could also be seen. In addition 2 cases originally diagnosed as CMT proved to be distal myopathy on electromyography (EMG). According to electrodiagnostic criteria, patients in the same family could belong to different subgroups of CMT suggesting that the present use of conduction velocities as the discriminating factor between the groups may be unsound.
Pi phenotypes were classified by isoelectric focusing of the sera of 200 full-term Finnish newborns at the age of 3--5 days. The phenotype PiM was found in 95% of the neonates. The frequencies of the alleles PiM1, PiM2 and PiM3 were 0.682, 0.189 and 0.129, respectively. The serum concentration (mean +/- SD) of alpha-1-antitrypsin (alpha 1-AT) in the whole study group was 2.72 +/- 0.61 g/l. The concentration of alpha 1-AT in the newborns with the phenotype PiM3 (1.79 +/- 0.65 g/l) was significantly lower (p less than 0.025) than in other PiM subtypes. No difference in serum concentrations of alpha 1-AT between boys (2.78 +/- 0.66 g/l) and girls (2.66 +/- 0.55 g/l) was observed.
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Fifty samples of maxillary sinus effusion from 40 patients (median age 29 years; 26 females and 14 males) with acute maxillary sinusitis (AMS) were subjected to quantitative and qualitative bacteriological analysis. Furthermore, bacteria coated with immunoglobulin (IgG, secretory IgA, IgM) or complement (C3b) were evaluated using an immunofluorescence assay. 72% of the samples harboured detectable bacteria, the most common pathogens being Streptococcus pneumoniae and non-typable Haemophilus influenzae. Of the bacteria-positive samples, 28% harboured immunoglobulin-coated bacteria. During the first weeks of an AMS infection, the present immunoglobulins are insufficient to protect the maxillary sinuses.