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)

Clinical and electrophysiological studies were performed on 250 patients with carpal tunnel syndrome. Acroparaesthesia was often referred to all digits (64%) and proximal pain was not uncommon (46%). The male patients as a group differed from the female in that nocturnal acroparaesthesia was less frequent and a causal of predisposing factor was identifiable in the majority (76%). The most common associated condition in the females was trigger finger (11%). An associated ulnar nerve lesion was rare. Delay in diagnosis was attributable to cultural factors or lack of awareness of the occurrence of diffuse acroparaesthesia and proximal pain in the syndrome. Sensory signs were commoner (85%) than motor (53%). The most useful clinical finding was digital sensory 'splitting' (ring finger) which was present in 58% of hands and clearly distinguished the condition from a radiculopathy, myelopathy or a diffuse polyneuropathy. In general, the diagnostic yield of any test depends on the duration of the disease. Of the various electrodiagnostic tests employing surface electrodes, the most sensitive was the comparison of the median (index finger) to ulnar (little finger) sensory amplitude. This was abnormal in 73% of hands and was found to be particularly useful in patients with a probable background of polyneuropathy or suspected cervical rib syndrome. Slowing of sensory conduction was demonstrable in 67% of hands, decreased sensory amplitude in 44% and prolonged motor latency 35 to 32%. A combination of the various electrodiagnostic tests yielded a positive result in 91%. Decompression resulted in complete recovery in 85% and some improvement in all the remaining patients. The outcome was adversely affected by the presence of several neurological deficits but apparently not by the presence of a coexisting disease.
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PMID:The carpal tunnel syndrome: a clinical and electrophysiological study of 250 patients. 61 9

The authors present the results of surgery of a short series cases of compression of the median nerve. All cases involved idiopathic acroparesthesia. The surgical technique was the same in all cases: opening and resection of the large annular ligament, and opening of "loge de Guyon". All the patients were seen again by the same observer 1 to 6 years later (average time after surgery 2 1/2 years). The results were excellent as regards pain and subjective sensory disorders. In contrast, the muscular atrophy was little improved. The results of comparative electric examinations (19 cases) were improved, except where there were pre-operative signs of considerable denervation. In conclusion, the authors think that surgical opening should be restricted to patients presenting signs of serious denervation and to those who no longer benefit from medical infiltration treatment.
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PMID:[Surgical opening of the carpal tunnel. Long-term results]. 83 54

The report is concerned with clinico-electrophysiological studies of 36 patients with acute occlusional processes in the system of the subclavian artery. The causes of acute occlusions were mainly cardiac disorders and anomalies in the development of bone-muscular systems in the upper apperture of the thorax. Diffucilties of diagnosis during the initial peroids can be explained by a prevalence of symptoms of irritation with wide zones of distribution of pain and acroparesthesia. The amount of supplementary methods of studies, including angiography, predetermine the second period which is characterized by symptoms of desintegration of the peripheral nervous system functions and typical signs of arterial ischemia. An early detection of causes of acute arterial ischemia is a basis for determining the level and volume of surgical operations and measures leading to the restitution of functions of the peripheral nervous system.
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PMID:[Changes in the nervous system of patients with acute occlusive processes in the subclavian artery system]. 89 22

During the second winter of the war (1937-38) most of the patients showed a picture of classic pellagra, with a number of neurological disorders which in same cases appeared with no other manifestations of Pellagra. The clinical picture was dominated by the appearance of famine edema, with less manifestations of specific vitamin deficiencies, with neurological manifestations called similar to those "burning feet" syndrome and described by us as Paresthetic and Paresthetic-causalgic syndrome. The prominent features were: acroparesthesia, dysestesia dolorosa, sensation of cold, sensation of wetness, hyperpathia and causalgic pain. Treatment with nicotinic acid was very effective for the classical manifestations of Pellagra (dermatitis, diarrhea and dementia), but had no significant effect on the neurological manifestations. No effect of vitamin B1 was observed, but some improvement following the administration of autoclaved brewers yeast. It was concluded that the neurological manifestations often associated with the classical picture of Pellagra are not due to nicotinic acid deficiency, but to the deficiency of some component of the vitamin B complex which was neither vitamin B1, nor vitamin B2.
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PMID:Vitamin deficiencies during the Spanish Civil War in Madrid: a reminiscence. 675 Oct 52

We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We also examined clinical and biochemical features and compared the values of CPTs and nerve conduction studies (NCS) in detecting the sensory neuropathy. Our results showed that CPT testing at low frequencies (5 and 250 Hz) was significantly more sensitive than at a higher frequency (2 kHz) and NCS in detecting sensory neuropathy in patients with Fabry's disease. However, there was no correlation between CPT testing and clinical symptom scores, duration of disease, creatinine clearance (Ccr) values or alpha-galactosidase A (AGA) activities in either hemizygous or heterozygous patients. Hemizygous patients clinically demonstrated more severe symptom scores, poorer renal function, and higher prevalence of hypohidrosis and corpora angiokeratomas than did heterozygous patients, which indicates that detailed clinical examinations can differentiate the clinical status of hemizygous men from heterozygous women. There were no associations between the biochemical levels of serum AGA activity and renal function (Ccr values) or the symptom scores (grading of acroparesthesia), indicating that biochemical parameters do not predict clinical severity.
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PMID:Current perception threshold testing in Fabry's disease. 1051 30

This paper is the first of its kind to study the impact of Fabry disease (FD) in affected males, and shows that FD is associated with a significant decline in several domains. Using the medical outcomes study (MOS) SF-36 and a FD-specific questionnaire, we compared the observations found among these patients with that obtained for the general US population and other chronic disease states, including Gaucher disease (GD) (another lysosomal storage disorder), end-stage renal disease, stoke and AIDS. Patients with FD have a score profile most similar to patients with AIDS. In comparison with patients with GD, Fabry patients score substantially lower across all domains. Using simple linear regression, potential predictors of health-related quality of life (HRQOL) for Fabry patients were also determined. As in the general population, stroke, cardiac problems and renal disease lead to substantial decrement in HRQOL. In addition, two disease specific symptoms (acroparesthesia and anhidrosis) and pain are also predictors of decreased quality of life. Currently, no specific therapy for FD exists. As enzyme therapy for FD becomes increasingly available, it will be interesting to evaluate the therapy's impact on the quality of life of patients.
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PMID:Quality of life of patients with Fabry disease. 1208 17

Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells. Resulting narrowing and tortuosity of small blood vessels lead to tissue ischaemia and infarction. Inability to prevent the progression of glycosphingolipid deposition causes significant morbidity (acroparesthesia, angiokeratoma, autonomic dysfunction, cardiomyopathy and deafness), and mortality from early onset strokes, heart attack and renal failure in adulthood. Demonstration of alpha-galactosidase A deficiency in leukocytes or plasma is the definitive method for the diagnosis of affected hemizygous males. Most heterozygotes present with a cardiac, renal or neurological symptomatology, although to a lesser extent than what is observed in hemizygotes. Due to random X-chromosomal inactivation, enzymatic detection of carriers is often inconclusive. Molecular testing of possible carriers is therefore mandatory for accurate genetic counselling. The GLA gene has been cloned and more than 200 mutations have been identified. Medical management is symptomatic and consists of partial pain relief with analgesic drugs (gabapentin, carbamazepine), whereas renal transplantation or dialysis is available for patients experiencing end-stage renal failure. However, the ability to produce high doses of alpha-galactosidase A in vitro has opened the way to clinical studies and enzyme replacement therapy has recently been validated as a therapeutic agent for FD patients in clinical trials. Long term safety and efficacy of replacement therapy are currently being investigated.
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PMID:[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]. 1236 Jul 45

The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. A 35-year-old man was admitted because he was overweight and had hypertension, with a serum creatinine level of 1.3 mg/dL (115 micromol/L) and protein excretion of 870 mg/d. Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of Fabry disease was entertained. In the index patient, acroparesthesia, hypohidrosis, pain, angiokeratomas of the skin, and cornea verticillata suggesting Fabry disease were absent. Conversely, renal biopsy showed typical globotriaosylceramide deposits, and leukocyte alpha-galactosidase (alpha-GLA) A activity was decreased. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. In the brother who died, Fabry disease, missed at autopsy because of cancer-related findings, could be confirmed after repeated review of histological slides. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet). We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
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PMID:Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. 1586 41

Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity. As a consequence, neutral glycosphingolipides can not be cleaved and metabolized, and accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia. Characteristic symptoms of FD can occur in male and female patients with the same prevalence, while females with FD seem to be less severely affected. The course of untreated illness is progressive with considerable interindividual variability. Since 2001 two enzyme replacement therapies are approved which can possibly stop the disease progress and alleviate symptoms. The very few reports and clinical observations have shown that a very high proportion of FD patients develop neuropsychiatric symptoms. However, accurate data are lacking. Although the pathophysiologic mechanisms are quite unknown, it is surmised that sphingolipid deposits in the endothelium of small cerebral vessels lead to regional cerebral ischemia accompanied by neuropsychiatric symptoms and deficits. Furthermore, patients with FD are chronically distressed by pain attacks and additional somatic and psychological impairment. Frequently, pain attacks are triggered by psychosocial stress. The high interindividual variability can, thus, also be interpreted on the basis of existing stress and coping models. The present paper will review the presently available psychiatric and neuropsychological findings in FD and will discuss difficulties associated with classification and differential diagnosis of psychiatric disorders occurring in patients with FD.
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PMID:[Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]. 1628 13

Anderson Fabry disease (alpha galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder; alpha galactosidase A deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promoting development of disease with renal, cardiovascular, and cerebrovascular involvement. Clinical aspects which usually begin in childhood or adolescence include intermittent pain in the extremities (acroparesthesias), episodic "Fabry crisis" of acute pain lasting hours to days, characteristic skin lesions (angiokeratomas), hypohidrosis, heat and cold intolerance. Classic phenotype conception of the disease has changed within the past decade, recognizing that disease is not limited to the classical full-blown manifestation in affected males, but may also occur in carrier females. The expanding clinical spectrum of Anderson Fabry disease (AFD) is a real challenge to diagnosis, especially in some patients whose exclusive single organ manifestation belongs to the heart or kidney. This paper reviews natural history of three unrecognized cases recently diagnosed by markedly deficient alpha galactosidase A (alpha Gal A) activity in peripheral leucocytes. Case A: A male patient, aged 24 years, experienced recurrent acroparesthesia when he was 9 years-old. His 26 years-old sister has angiokeratomas as the only sign of disease (case B). Case C: the uncle of these two cases (A, B) has a long history of disease including chronic renal failure, bilateral deafness, stroke, aseptic osteonecrosis. The purpose of the presentation is to sharpen physicians' perception of this disease. Early and accurate diagnosis is mandatory considering that this disorder is now, after introduction of the novel enzyme replacement therapy, a treatable disease.
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PMID:Clinical spectrum of Anderson Fabry disease in a Romanian family. 1723


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