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

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.
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PMID:A twenty-one-year review of a case of congenital indifference to pain. 4 53

Neuropathic injuries of the lower extremities in children due to meningomyelocele, congenital indifference to pain, and peripheral nerve damage were studied in 10 patients. The injuries fell into four categories: (a) fractures of the metaphysis and diaphysis of long bones, (b) epiphyseal separation, (c) Charcot joints, and (d) soft-tissue ulceration. These injuries are often unrecognized; untreated, they can lead to severe disability. For patients with impaired sensation, radiographs should be obtained at any sign of localized soft-tissue swelling, warmth, or hyperemia, especially near a joint. Following diagnosis, immobilization of the limb will lead to prompt healing of fractures and epiphyseal separation.
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PMID:Neuropathic injuries to the lower extremities in children. 7 89

Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To date, 11 cases have been reported. We have reviewed the literature and are describing two girls with CIPA, born to consanguine Jewish parents of Moroccan origin. Immunoglobulin deficiency has been reported in CIPA but an immunologic investigation on one of our cases showed only an early and transient deficiency of IgA. The presence in the family of a brother with ataxia telangiectasia and complete absence of IgA would seem to be irrelevant and it seems probable that the parents are heterozygotic for two disparate autosomal recessive syndromes.
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PMID:Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency. 9 93

During a ten year study, 10% of patients at a general hospital in-patient unit had unsolved diagnostic problems at the time of discharge from hospital. These 132 cases were designated 'uncertain' and were followed up. Eighty-three patients were ultimately diagnosed, and 300 consecutive in-patients discharged from the same unit with a definite diagnosis were also studied. The clinical features and diagnoses of the two groups were compared. Special features associated with uncertainty were: a presenting complaint of pain; apathy without apparent mental or physical cause; hallucinosis or major paranoid symptoms without other good evidence of psychosis. Age was found to be relevant; compared with patients receiving confident diagnoses, those with uncertain diagnosis due to depressive psychosis were more often younger, while those due to neurosis or personality disorder tended to be older. Atypical psychotic depression was the condition most commonly associated with diagnostic doubt.
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PMID:Diagnosis 'uncertain': a follow-up study. 59 87

In abuse dwarfism the behavioral signs include some or all of the following: (1) a history of unusual eating and drinking behavior, reversible on change of domicile, such as eating from a garbage can and drinking from a toilet bowl, stealing food, alleged picky eating and rejecting food at the table, polydipsia and polyphagia, possibly alternating with vomiting and possibly also with self-starvation; (2) a history of such behavioral symptoms as enuresis, encopresis, social apathy or inertia, defiant aggressiveness, sudden tantrums, crying spasms, insomnia, eccentric sleeping and waking schedule, pain agnosia, and self-injury, all occurring only in the growth-retarding environment; (3) retarded motor development, with improvement on removal of the child from the domiclle of abuse; (4) retarded intellectual growht, reversible on change of domicile by as much as 30 to 50 IQ points; and (5) a history of pathologic family relationships, including unusual cruelty and neglect, either somatic or psychic or both.
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PMID:The syndrome of abuse dwarfism (psychosocial dwarfism or reversible hyposomatotropism). 85 51

We have investigated plasma beta-endorphin (beta-E), ACTH, and cortisol in two cases of congenital indifference to pain (CIP), a rare syndrome characterized by unresponsiveness to painful stimuli. As the two patients had frequent skin infections, we also studied lymphocyte response to mitogens in the absence or presence of beta-E. In addition, we explored a series of lymphocyte membrane antigens related to different aspects of the immune response, such as CD3+, CD4+, CD8+, B, NK Leu 7, Leu 9, and Leu 19, anti-interleukin-2 receptor (anti-TAC). Plasma beta-E levels in the two patients were significantly higher than in controls, whereas plasma ACTH and cortisol levels were normal. Lymphocyte response to the mitogen phytohemagglutinin was normal. The expression of Leu 7, Leu 9, and Leu 19, three antigens related to natural killer cells, was decreased by about 50%. The results indicate that in the two cases of CIP studied, high plasma beta-E levels are associated with a reduction in the expression of natural killer cells. This suggests that the two phenomena are specifically related to each other. These data represent further evidence of the possible pathophysiological relevance of the neuroendocrine-immune feedback.
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PMID:Plasma beta-endorphin levels and natural-killer cells in two cases of congenital indifference to pain. 137 38

Congenital indifference to pain is often mistaken for congenital insensitivity. It is characterized by the occurrence since childhood of lesions, mainly cutaneous and osteoarticular secondary to strictly painless traumas. However, despite the lack of pain, the patient is able to discriminate a painful stimulus. Autopsy shows no abnormality of the nervous system. A dysfunction of the central endomorphinic systems has been suggested. Congenital analgesia is associated with anhidrosis in Swanson's syndrome (in which Lissauer the tractus is absent in the spinal cord) and with dysautonomia in Riley-Days's disease (in which there is a lack of amyelicinic fibres). On account of these data, some authors refuse the autonomy of congenital indifference and classify it in the group of the various autonomic and sensory neuropathies. However it seems justified to acknowledge the congenital analgesia with two varieties: congenital indifference in which there is no sensation of pain but normal sensory pathway and tonic function of endomorphinic system, congenital insensitivity in which the painful stimulus is not transmitted to the central nervous system.
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PMID:[Congenital indifference and congenital insensitivity to pain]. 138 39

Maximizing the uptake of mammography among the eligible population will be critical to the success of the national breast cancer screening programme. Although compliance may vary for different reasons from area to area, it has been suggested that making screening clinics more accessible may be an effective means of enhancing uptake. In the present study we undertook 600 interviews with women who had been invited for mammography to determine the main reasons given by women in Northern Ireland for not attending for mammography when invited, how these may have related to access factors and to discover their views on how the service might be improved. The most frequently cited reasons for non-attendance were related to feelings of indifference or ignorance of screening issues and to fear of pain or embarrassment. Although more non-attenders did not have access to private transport, few women (23/600) expressed a preference for more accessible clinics. The fact that non-attenders were more likely not to have had a recent cervical smear, adds weight to the notion that attitudes rather than access played the predominant role in influencing uptake in this sample. We have concluded that investment in flexible mobile screening units cannot replace the continued need for delivering effective advocacy to eligible women.
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PMID:Attitude or access: reasons for not attending mammography in Northern Ireland. 146 80

Two patients from a family with dominantly inherited indifference to pain were investigated. Perception of the other sensory modalities was normal as was the remainder of the neurological examination. Electrophysiological studies and morphometric evaluation of myelinated and unmyelinated fibers of nerve biopsy specimens were normal. This is the first morphometric study of peripheral nerve in dominantly inherited indifference to pain.
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PMID:Dominantly transmitted congenital indifference to pain. 169 19

Communication difficulties are a commonly cited barrier to health-care provision for individuals with developmental disabilities. However, an examination of the medical and psychological literature on pain suggests that alternative explanations for some instances of medical catastrophe are pain insensitivity or pain indifference. Although the proportion of case studies of pain-absent individuals who also have developmental disabilities is much higher than would be expected given the size of this subpopulation, proper incidence studies have not been conducted. Reinterpretation of a study on intestinal obstruction-caused mortality suggests that there is a pressing need for such incidence studies.
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PMID:Pain insensitivity and indifference: alternative explanations for some medical catastrophes. 177 77


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