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The usual features of Paget's disease of bone, e.g. large head, deafness due to involvement of the 8th cranial nerve and bowing of the legs are all well described in text books of medicine. However, some features such as platybasia with neurological deficit, involvement of the 2nd, 5th and 7th cranial nerves, hydrocephalus, dementia, dysphasia, corrugation of the skull, bone pain (with or without associated osteo-arthrosis of hips and knees), heart failure, triradiate deformity of the pelvis have either had an inadequate or no description in books. These features are unusual, but it is important to recognise them, as the advances made since the introduction of the very promising new drugs in recent years have not only provided increasing insight into the disease, but also have improved management of patients with Paget's disease of bone.
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PMID:Some unusual features of Paget's disease of bone. 68 80

Seven patients with myasthenia gravis developed clinical signs of arthropathy. In two patients, the symptoms were due to a deforming rheumatoid arthritis and the myasthenic symptoms appeared as a transitory phase during the course of the disease. Muscle antibodies of IgG class were demonstrated with sera from both patients. Autoreactivity between muscle antibodies and rheumatoid factor was detected in one patient. Both patients died from sudden cardiac failure. Necropsy was performed in one and revealed a spotty myocardial necrosis. One patient had juvenile rheumatoid arthritis. Two patients had mild articular symptoms with indices of multivisceral disease and serological findings indicating a systemic lupus erythematous. One patient had classical ankylosing spondylitis, and one, unspecified arthropathy.
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PMID:Arthritis in myasthenia gravis. 110 89

During the period 1950-1985, a total of 179 cases of clinically overt hereditary haemochromatosis (HH) were registered in Denmark, 140 males and 39 females. Median age at diagnosis was 55 years (range 29-81). Diagnostic approaches, symptoms and physical signs at discovery are described. All patients had grade 3-4 liver haemosiderin iron, and cirrhosis was present in 84%. Serum (S-) transaminase was elevated in 92%, S-alkaline phosphatase in 47% and S-bilirubin in 23%, while plasma prothrombin time was below normal in 34%. Females had higher alkaline phosphatase than males (p less than 0.05). Bone marrow haemosiderin iron (n = 81) showed no relation to iron status indicators and was unsuitable as a diagnostic tool. Skin biopsy (n = 56) was positive for haemosiderin iron in 67% and for melanin in 57%, but was of limited value in the assessment of HH. Arthropathy was registered in 44%; arthralgias and clinical joint abnormalities occurred more frequently in females than in males (p less than 0.05). Latent diabetes mellitus was found in 34% and overt diabetes in 55%, being more frequent in males than in females (p less than 0.05). Other endocrine abnormalities were seen in 66%. Cardiac failure was observed in 9% and abnormal ECG in 35%. Males had higher haemoglobin (p less than 0.0001) and S-iron (p less than 0.01) than females, while S-transferrin, transferrin saturation, S-ferritin and mobilizable iron stores showed no significant sex differences. Median transferrin saturation was 87% (range 52-100); values greater than 62% were observed in 96% of the patients. Median S-ferritin was 3,400 micrograms/l (800-12,700) and median iron stores 14.8 g (4.5-36.4).
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PMID:Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. 191 39

Osteitis deformans is a focal disease of the osteoclasts characterised by increased bone resorption subsequently followed by increased bone formation leading to abnormal bone. A viral etiology seems increasingly probable, but remains unproven. 5-30% of the patients present with symptoms such as pain, deformity and fracture. Hearing loss, nerve- or root-compression, arthrosis and hyperuricaemia may complicate the disease while malignant degeneration, hypercalcemia and high output cardiac failure are rare. The diagnosis is based on X-ray findings but biopsy may be necessary in selected cases. The extent of the disease is revealed by bone scintigraphy and the activity of the disease reflected by urine hydroxyproline excretion and serum alkaline phosphatase.
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PMID:[Paget's osteitis deformans. Epidemiology and clinical picture]. 292 39

Idiopathic hemochromatosis is a hereditary disease characterized by a progressive iron overload secondary to high intestinal iron absorption. After a latent period of many years, manifestations of liver cirrhosis, diabetes mellitus, cardiac failure, hypogonadism, skin hyperpigmentation and arthropathy can occur. Liver cirrhosis is the most common feature and it is complicated by hepatocellular carcinoma in 30% of cases. Tests of high sensibility are available for early diagnosis. Repeated phlebotomy can prevent clinical features in asymptomatic patients and can improve prognosis in symptomatic subjects. Current concepts in idiopathic hemochromatosis are reported in this review.
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PMID:[Idiopathic hemochromatosis]. 298 52

The excessive storage of iron in idiopathic haemochromatosis leads to severe organic lesion up to life-threatening conditions (cardiac insufficiency, portal decompensation). The symptoms melanodermia , diabetes mellitus and other endocrine failures, liver cirrhosis, cardiac insufficiency and arthropathy appear together or in various combinations. The diagnosis is ascertained by the proof of iron storage, the multiple organic affection and by familial accumulation of the various laboratory diagnostic possibilities are particularly to be emphasized the serum iron value together with the percetal transferrin saturation (as search test), serum ferritin, the desferrioxamine test, simple ferrokinetic investigations and the quantitative determination of iron in the liver in the bioptate . For family examinations, apart from the search test, a HLA typisation is reasonable, in order to estimate the risk of the disease (particularly of brothers and sisters). The therapy of choice are blood- lettings (0.5 l once to twice a week) up to obtaining a permanent easy iron deficiency anaemia. The maintenance therapy should be performed with monthly to quarterly blood- lettings . Only in cases exception a desferal treatment is indicated. Endocrine failures and cardiac disturbances need a particular therapy.
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PMID:[Idiopathic hemochromatosis--diagnosis and therapy]. 673 May 91

The objective of this study was to describe the health problems of a group dementia patients on admission and during residence in a Dutch nursing home and to compare these with figures of patients of 75 years and over from general practice. In 890 nursing home patients suffering from dementia prevalence of health problems on admission and the incidence during the residence were classified by means of the ICHPPC-2-defined. The differences between men and women were studied as was the influence of the season on the incidence during the stay. Results were compared with figures of patients of seventy five year and over from the continuous morbidity registration (CMR) from 'Nijmegen'. The most frequently occurring health problems on admission were: varicose veins of legs, acquired deformation of the spine, presbyacusis, hypertension, arthrosis, COPD, cerebrovascular disorders, heart murmur, cataract and chronic ischemic heart disease. During the residence the following health problems were frequently diagnosed: urinary tract infection, side effect of medicine, constipation, pneumonia, pressure sore, feeding problem, contusion, heart failure, cold and conjunctivitis. There were clear differences between men and women. Especially the incidence of intercurrent diseases showed great differences from the patterns in general practice. Prevalence of health problems on admission to the nursing home home agreed mor with figures from general practice. Respiratory tract infections frequently occurred in winter and urinary tract infections, pressure sores and conjunctivitis seemed to occur more in the summer. Nursing home patients with dementia have a lot of chronic and intercurrent health problems. They differ clearly from patients in general practice.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Incidence and prevalence of health problems in a group of nursing home patients with dementia. A comparison with family practice]. 780 16

Hereditary hemochromatosis is a common disorder of iron metabolism with a prevalence as high as 8 per 1000. Affected individuals absorb excessive amounts of dietary iron and over time, tissue iron deposition results in skin discoloration, arthropathy, hepatic cirrhosis, heart failure, diabetes mellitus and impotence. Early diagnosis and institution of phlebotomy treatments will prevent these manifestations and normalize life expectancy. Once organ damage is established many of the manifestations are irreversible. Since the early manifestations of the disease are subtle, a case can be made for routine screening. This conclusion is supported by cost-effectiveness analysis based on available data. A reasonable screening strategy would start with a serum transferrin saturation. A value > or = 55% should trigger a repeat transferrin saturation in a fasting state and a serum ferritin level. If both these tests are abnormal, a liver biopsy with quantitative iron determination is the currently accepted confirmatory test.
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PMID:Management of hereditary hemochromatosis. 788 27

Lyme borreliosis, caused by the tick-borne spirochete Borrelia burgdorferi, has been found to cause a variety of clinical syndromes including cardiomyopathy, dermatopathy, neuropathy, and arthropathy. Lyme carditis was originally described as a mild self-limited carditis, primarily involving the conduction system. However, recent reports suggest that cardiac involvement may be more serious than previously suspected, and may cause heart failure and probably congestive cardiomyopathy.
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PMID:[Cardiac manifestations of Borrelia burgdorferi infection (Lyme-borreliosis)]. 823 94

The aim was to examine the feasibility of a study of centenarians and to describe morbidity and functional capacity of centenarians in the County of Funen. A total of 51 out of 58 centenarians on Funen born on May 1, 1894 or before participated. An interview could be carried out almost completely in 80.4% of the 51 participants, cognitive testing (MMSE) in 78.4% and physical performance test (PPT) in 49%. Additional information on morbidity and activities of daily living (ADL) was collected on all 51 centenarians from family members, nursing staff, GP's, hospital registries and the National Cancer Registry. Almost 3/4 were women and 58.8% were in an old people's home. Osteoarthrosis, urinary incontinence, heart failure, dizziness and eye diseases were found to be frequently prevalent, while hypertension, diabetes, cancer and stroke were found to be rare. Based on Katz' ADL index approx. 1/3 could be considered to be independent of help, while almost everybody was dependent on help for the instrumental activities (IADL). A low average score was found at the PPT, especially the walking speed was found to be very slow. Only 32.5% scored over 23 points at the MMSE, but allowing for severe impairment of vision and hearing more than 1/3 were found to be cognitively well-functioning. Severe dementia was found among 15.7%. Dependency on help for the ADL-functions was not found to be associated with health measurement, but strongly associated with visual function, PPT and MMSE (p < 0.001). The characterization of centenarians as described in a number of foreign studies as being an homogeneous, relatively healthy and independent group could therefore not be confirmed. On the contrary, they were found to be very heterogeneous and characterized by multi-morbidity. By far the great part of them were in addition dependent on help in their activities of daily life. Approx. 1/3, however, were found to be relatively independent of help for basic functions, more than 1/3 were cognitively well-functioning, and a very small number could even manage a few outdoor functions by themselves.
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PMID:[Centenarians in the county of Funen. Morbidity and functional capacity]. 901 57


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