Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile rheumatoid arthritis or, more correctly, juvenile chronic polyarthritis with its many clinical manifestations can be separated into the Still-syndrome with acute beginning, high fever and a high percentage of extra-articulalar, i.e. visceral symptoms, and the chronic polyarthritis in the more strict sense with non-visceral symptoms. The subsepsis allergica should be regarded as a subseptic first stage of the Still syndrome. The Still-syndrome implies a systemic disease mainly of the reticulo-endothelial system, with carditis, nephropathy, recurrent erythemas, and a progressing polyarthritis. Later symptoms are amyloidosis, chronic nephritis, myo- and pericarditis, and artheriitis necroticans. Predominanly the involvement of the kidneys is the reasons for the high mortality rate of 13%. Chronic polyarthritis in the strict sense is similar in children and adults, though in children rheumatic factors are rarely detected. The exsudative form of arthritis tends to cause early deterioration. Joint symptoms are distributed asymmetrically and show locally inflammed growth otherwise less common in Still-syndrome. Spondylitis cervicalis rapidly causes ankylosis. Atlanto-axial-arthritis with consequent atlanto-axial dislocation can be the reason for neurological disturbances. Juvenile mono- or oligo-arthritis often turns into polyarthritis; but for joints the prognosis is more favourable. In contrast, rheumatoid iridocyclitis as found in 22% of the cases causes unfavourable complications because symptoms are not noticed in time so that treatment is often too late. Juvenile spondylitis ankylosans begins with a peripheral arthritic stage which is not easily distinguished from chronic polyarthritis. The male sex, mono- or oligoarthritis of the outer extremities, pain in the heel, atlanto-axial-arthritis, iridocyclitis, and a positive HLA of 27 give a diagnostic clue. -- Characteristics of the therapy will be discussed.
 ...
PMID:[Juvenile rheumatoid arthritis and related collagen diseases. Clinical aspects (author's transl)]. 1 66

A boy aged three with indifference to pain was followed up until his death from amyloid disease some twenty-one years later. A full necropsy was done and the neuropathology suggested a sensory neuropathy.
 ...
PMID:A twenty-one-year review of a case of congenital indifference to pain. 4 53

In the department of Professor Dausset 41 cases of periodic disease referred by 7 clinics in Paris were examined. Two studies were carried out. A series of 31 not related patients was testes with 30 locus A and B antigen and the frequencies observed were compared with the frequencies in a French and Yemenite Jew population. No statistically valid increase of an HLA gene indicative of a relationship between periodic disease and HLA was found. In 5 cases of amyloidosis HLA A 28 was present and it is possible that this gene is related to the amyloid complication. A family study on 12 families, 7 of which included at least 2 affected children, confirmed the recessive hereditary character of the disease, but not in relation to the HLA system. A parallel clinical study was made, which corroborated the previous studies as regards the frequency of clinical signs. The therapeutic study proved the value of long-term colchicin treatment with or without antihistaminics. The frequency of pain and abdominal crises was reduced, but there was little effect on the articular manifestations.
 ...
PMID:[HL-A and periodic disease]. 60 74

A 61-year old woman with 7 years' history of pain, infections and haematuria developed right ureter stenosis which was suspected of being a tumour. Microscopic examination of the ureter with stenosis showed primary amyloidosis. Although primary amyloidosis of the ureter is rare, it should be included in the differential diagnosis of ureter malignancy.
 ...
PMID:Primary amyloidosis of the ureter simulating malignancy. 71 97

Three patients with amyloidosis of the lower genitourinary tract are described. In the cases of primary localized amyloidosis of the urethra and primary systemic amyloidosis involving the prostate the clinical presentation mimicked cancer of the respective sites. In the case of secondary localized amyloidosis of the seminal vesicles chronic perineal pain suggested seminal vesiculitis.
 ...
PMID:Amyloidosis of the lower genitourinary tract. 126 19

On the basis of well defined diagnostic criteria, the authors conclude that periodic disease affects males in particular. It commences before the age of 20 years in 80 percent of cases. In particular it occurs in Armenian and Shiite communities. Its evolution is normally benign ; amyloidosis is found in only 8 percent of cases. Joint manifestations are found in 48 percent of cases and may take on different aspects and occur in several different sites : myaglia or arthralgia, monoarthitis, oligoarthritis, polyarthritis, neck or sacroiliac pain. The authors have not noted prolonged peripheral joint episodes. No cases of amyloidosis were diagnosed before the appearance of the clinical signs of the disease. An autosomal, dominant heredity with incomplete penetration seems to be the most likely hypothesis.
 ...
PMID:[Periodic disease (familial paroxysmal polyseritis). 52 cases]. 127 76

A Japanese patient with systemic amyloidosis associated with a transthyretin (TTR) variant Arg50 is presented. This 41-year-old man became impotent and developed decreased pain sensation in his hands, and then sensory loss and muscle wasting in his lower legs, and cardiomyopathy appeared. The symptoms progressed and he died of congestive heart failure at age 46. There were amyloid deposits in all organs studied and massive amyloid deposition was seen in the peripheral nerves and cardiac muscles. Amyloid fibrils extracted from heart tissue contained TTR. A genetic mutation, causing a Ser50-->Arg substitution of the TTR molecule, was identified in another family member. Plasma TTR was shown to be a mixture of normal TTR Ser50 and mutant TTR Arg50 in the 2 subjects.
 ...
PMID:Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 133 38

We report the association of a cutaneous lesion with multiple endocrine neoplasia type 2A (MEN 2A) in three patients from a French family. These lesions are very similar to those previously described in an Italian and an American MEN 2A family and called cutaneous lichen amyloidosis. In all three families the patients presented with a pruritic and pigmented cutaneous lesion localized unilaterally on the upper back. However, in the French family the patients also complained of paroxysmal pain in the same area, in which we could elicit a touch hypoesthesia and pain hyperesthesia. Such an association of cutaneous and neurological features in the upper back is known as Notalgia Paresthetica (NP). NP is believed to represent a neuropathy of the posterior dorsal nerve rami. Unlike the two previously reported families, the histological, immunohistochemical and ultrastructural analysis of the skin biopsies of the French patients did not show any amyloid material. This suggests that the presence of amyloid may not be a constant feature of the cutaneous lesions associated with MEN 2A. We consider these lesions as a form of dorsal neuropathy rather than a cutaneous lichen amyloidosis. Whatever their origin, these cutaneous lesion usually precede the appearance of the neoplastic lesions of MEN 2A. They may act as an early clinical marker that must be searched for in each subject at risk for MEN 2A. In addition, all patients presenting with NP should be screened for MEN 2A.
 ...
PMID:[Cutaneous lesion associated with multiple endocrine neoplasms type 2A (Sipple's syndrome). An early clinical marker]. 134 55

Pseudotumor of the craniocervical junction and destructive spondyloarthropathy (DSA) are the most serious forms of dialysis amyloidosis (DAA). Pain and paralysis due to these lesions significantly impair activity of a patients' daily life (ADL). CAPD improved ADL of a 54 year-old male patient complicated with various forms of DAA after 17 years of hemodialysis (HD) treatment. He was first diagnosed as having carpal tunnel syndrome 12 years after initiation of hemodialysis followed by dialysis shoulders(12 years), trigger fingers(12 years), bone cysts(15 years), tendon ruptures(17 years), DSA and a pseudotumor of the craniocervical junction(17 years). Magnetic resonance imaging (MRI) taken in May 1989 revealed a pseudotumor of the craniocervical junction, which was 30 mm in diameter, located in front of partially destroyed C1 and C2. Neck pain and muscle weakness rendered him bed ridden. Six months after switching to CAPD with administration of prednisolone, neck pain disappeared. He recovered the muscle power by physical rehabilitation. At last it became possible for him to perform the CAPD procedure by himself and drive a car to the hospital as an out patient. In such cases of pseudotumors of the craniocervical junction, CAPD is one of the best methods for relieving the pain and muscle weakness.
 ...
PMID:Remarkable improvement of activity by CAPD in a hemodialysis patient with a pseudotumor of the craniocervical junction. 136 65

Three patients of a French family demonstrated an association of multiple endocrine neoplasia type 2A (MEN 2A) with a pruritic scapular skin lesion. The lesions are similar to those described as familial cutaneous lichen amyloidosis in unrelated MEN 2A and medullary thyroid carcinoma families, but histological, immunohistochemical, and ultrastructural analysis of skin biopsies from each patient in the French family did not show amyloid deposition. The topography of the lesion follows dermatomes C8-D3. The patients report not only pruritus but also paresthesia and hyperalgesia, and one showed touch hypoesthesia and pain hyperesthesia in the area of the lesion. Such an association of cutaneous and neurological features suggests notalgia paresthetica (NP), a neuropathy of the posterior dorsal rami nerves. We thus suggest that the cutaneous lesions associated with MEN 2A might be secondary to pathology in the neural crest-derived dorsal sensory nerves. The amyloid, when present, would be secondary to scratching. We propose that patients presenting with familial NP be suspect for MEN 2A.
 ...
PMID:Cutaneous lesion associated with multiple endocrine neoplasia type 2A: lichen amyloidosis or notalgia paresthetica? 136 14


1 2 3 4 5 6 7 8 9 10 Next >>