Biomedical subjects
Publications and source records attributed to P Møller.
DNA analysis of Xp21 markers in a family with two brothers affected with Duchenne muscular dystrophy (DMD) revealed that the mutation most likely had occurred in a grandpaternal sperm. There is therefore a low risk that the maternal aunts and their daughters are carriers of the DMD gene.
Seronegative arthritis is part of a multifactorial syndrome which also includes acute anterior uveitis (AAU), psoriasis, inflammatory bowel disease and forms of A-V block and aortic incompetence. The whole syndrome may be referred to as HEreditary Multifocal Relapsing Inflammation (HEMRI). Any sign may occur alone or in combinations with others. The signs may be triggered by infections, the arthritic components are then referred to as reactive arthritis. Genetic factors predetermine who is to contract disease when triggered. HLA-B27 itself is probably of major significance in ankylosing spondylitis and AAU. A genetic factor in linkage disequilibrium with HLA B13 and B17 is instrumental in familial psoriasis. Other genetic factors may determine psoriatic arthritis, and possibly also inflammatory bowel disease and juvenile arthritis. The genetic factors interact with each other and with the environmental factors when producing disease. Diagnosis should be based on demonstrated signs of disease. Classification according to genetic factors reflects etiology, disease manifestations and prognosis.
Two cases of major coagulopathy with onset during laparotomy for severe liver injuries are presented. Liver packing and planned reoperation as management of this severe condition is presented and recommended.
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A significant decrease in the mean percentage of active and total T lymphocytes was found in 20 patients with Bell's palsy during the 1st week of the disease. In 8 patients the mean percentage of T helper cells was normal, whereas the mean percentage of T suppressor cells was significantly reduced. In 4 patients a normalization of the percentage of T lymphocytes and T suppressor cells was found 3 months after disease onset. The mean percentages of cells with membrane-bound immunoglobulins, EA- and EAC-rosetting cells and phagocytes were normal. Antibodies to peripheral nerve tissue were detected in low titers in 2 out of 20 sera. In the 20 patients the mean serum concentrations of IgG, IgA, IgM, IgE, C3 and C4 were normal.
1-10 years after the first examination, 56 children below 15 years of age with unilateral sensorineural hearing loss were re-examined with a test-battery consisting of puretone and speech audiometry, stapedius reflex tests, caloric tests, brainstem response audiometry and otoneurological tests. In no case was an acoustic tumour suspected on the basis of the test results. A small progression of the hearing loss occurred in only one ear. In no case did the healthy ears develop hearing loss during the observation period. Diagnostic procedures can in most of such cases be limited to pure-tone audiometry. Follow-up is indicated because some patients require advice considering education and evaluation regarding fitting of a hearing aid.
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The atrioventricular conduction time (P-R interval) was determined in 189 women and 90 men with rheumatoid arthritis (RA). Only three women and one man were found to have pathological prolongation of the P-R interval. However, a significant prolongation of the P-R interval, within normal range, was seen in women with RA compared with healthy controls. Apart from the relation to radiographically enlarged heart, prolonged P-R interval showed no association with other signs of RA and had no prognostic implications in the follow-up period (mean 5.4 years). Current chloroquine therapy delayed the atrioventricular conduction while corticosteroids accelerated it.
The isoamylase pattern in serum and the amylase thermolability have been suggested as screening tests for the development of pancreatic pseudocysts. To study whether serum reflects the contents of pseudocysts, we have investigated the isoamylases and their thermolability in cyst fluid and in serum from 13 patients with pancreatic pseudocysts. No significant correlation was found between the contents in serum and cyst fluid with regard to total amylase and isoamylase P2 and P3 or with regard to the thermolability of total amylase and isoamylase P2 and P3. Thus, serum does not reflect the cyst contents of isoamylases or their thermolability. Therefore these serum amylase determinations can hardly be expected to be useful in distinguishing patients developing pseudocysts among patients with pancreatitis.
One hundred and twenty-two consecutive hospitalized patients aged 35 years or more, and with definite radiographic bilateral sacro-iliitis were re-examined. All but 3 met established criteria for definite ankylosing spondylitis (AS). All peripheral joints from 114 of these patients were radiographed, and definite arthritis in one or several joints was demonstrated in 47 (41%) of them. The distribution pattern of arthritis was generally symmetric or slightly asymmetric. Articular new bone formation was a common finding in arthritic joints. The frequency of patients with hip arthritis was low (24% including patients with hip joint replacements); possible explanations include the selection of patients examined and difficulties in distinguishing between a primary osteoarthritis and osteoarthritis secondary to arthritis in a single radiographic examination in such patients. Although the hip joints were often severely affected, with extensive new bone formation, the erosions were generally small and protrusion of the acetabulum was not seen. Arthritis of the shoulder or of the hip was associated with an early onset of AS. Arthritis in the finger joints was associated with clinical psoriasis but was also a frequent finding in HLA B27-positive patients free from this condition (23%). Arthritic changes of small joints with extensive new bone formation ('egg in shell', 'pencil in cup' or 'gull wing' appearance) were seen in patients without clinical psoriasis. New bone formation of the ischium was frequent in HLA B27-positive patients (36%), but was not seen in HLA B27-negative patients. No differences concerning the frequency or severity of different radiographic pathologic changes recorded were observed between the sexes.
Ten consecutive patients with juvenile ankylosing spondylitis were investigated in a prospective study. At least one of the parents of each patient had a positive history of probable or definite ankylosing spondylitis, Reiter's syndrome, or acute anterior uveitis. The patients and their parents were examined clinically and were HLA-typed. Nine of the 10 patients exhibited the genetic marker HLA B27, but only one patient was homozygous for HLA B27. This prevalence of homozygosity among HLA B27 positive persons could be expected to occur by chance alone. Based on the limited material studied, we cautiously conclude that HLA B27 homozygosity is probably not responsible for disease onset in childhood.
One hundred and twenty-two hospitalized patients, 35 years or more of age with confirmed bilateral sacro-iliitis and 239 first-degree relatives, 25 years or more of age, were examined. All but 3 of the patients had confirmed ankylosing spondylitis (AS) in accordance with established criteria. The sacro-iliac joints were scored by a recently developed grading system. The prevalence of grade V sacro-iliits--extensive ankylosis--was greater in HLA B27-positive than in HLA B27-negative patients, and ankylosis of apophyseal joints, ossification of the interspinous ligament, or block vertebrae were not seen in HLA B27-negative patients. Shining corners and/or squared vertebrae were the most frequent findings of the dorsolumbar spine in patients with a disease course of less than 10 years. Mixed osteophytes were rare in patients below 40 years of age. All radiographic inflammatory changes scored in the spine-except for shining corners--were most often seen in patients with a disease history exceeding 20 years. Syndesmophytes and/or ankylosed apophyseal joints were less extensive in female than in male patients. No differences in the severity of radiographic changes in sacro-iliac joints or in frequency, severity or localization of different radiographic changes of the dorsolumbar spine were observed between HLA B27-positive patients with and those without psoriasis or acute anterior uveitis. Definite sacro-iliitis was restricted to HLA B27-positive relatives of HLA B27-positive probands and demonstrated in one-fifth of them. Shining corners and/or squared vertebrae were frequent findings in relatives with sacro-iliitis (45%), whereas apophyseal joint ankylosis, ossification of the interspinous ligament, block vertebrae and bridging syndesmophytes were not seen. Our results support the view that AS is not a defined disease entity and should be regarded as a syndrome. AS is an improper name for all patients fulfilling the Rome and/or New York criteria for definite AS, since many of them will probably never develop ankylosis of the spine or sacro-iliac joints.
The results of tests for associations among radiographic findings of the dorsolumbar spine, peripheral joints, tendon insertions and the pubic symphysis are presented. Ankylosis of sacro-iliac joints, ankylosis of apophyseal joints, bridging syndesmophytes, ossified interspinous ligament, block vertebrae, arthritis of the pubic symphysis and new bone formation of the ischium were strongly mutually associated. They probably belong to the same subgroup of disease. Such findings were negatively associated with distal peripheral joint arthritis. Mixed osteophytes, parasyndesmophytes or shining corners (anterior spondylitis) showed associations suggesting that the etiology may be mixed. A late stage of sacro-iliitis, regressive changes, characterized by narrow joint spaces without extensive ankylosis and with minimal sclerosis (grade IV sacro-iliitis) was associated with distal peripheral joints arthritis, but negatively associated with signs of ankylosing processes of the dorsolumbar spine. On the basis of the radiographic findings, distinct subgroups of AS could be identified. These results confirm our previous results of an association pattern between clinical findings. We would also recommend that the grading system of sacro-iliitis put forward by Dale be adopted, since it turned out that this grading system often distinguished between distinct subgroups of this heterogeneous condition(s).
The frequency of cardiac conduction disturbance in ankylosing spondylitis is discussed. Risk of such disturbance in the patients' relatives is, to our knowledge, not known. To examine these problems, ECG records of 99 patients with ankylosing spondylitis and 132 of their adult first degree relatives were obtained. P-R intervals were determined by standardized methods and compared with P-R intervals of the controls. The distribution of P-R intervals both in the patients and their relatives was close to the controls'. Four cases of first degree AV block were found among the patients (P-R intervals 0.21-0.26 sec), one of them had aortic valve insufficiency. The single case of pronounced conduction delay (P-R interval 0.42 sec) was recorded in an otherwise healthy HLA B27-positive relative. One male secondary case of ankylosing spondylitis had a P-R interval of 0.22 sec. Patients who had experienced acute anterior uveitis had relatively long P-R intervals, while patients with psoriasis had relatively short P-R intervals. The conclusion was that cardiac conduction disturbance was not frequent in patients with ankylosing spondylitis or in their relatives.