Gene/Protein Disease Symptom Drug Enzyme Compound
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 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-eight workers from a factory producing nickel-cadmium and other types of batteries came to us for medical evaluation. They included 21 women and 17 men (seniority 2-20 years, age range 31-63 years), and represented a self-selected subset of 700-900 ever-employed and 200+ recently or currently employed workers in the factory. Thirty-four worked on the nickel-cadmium assembly line. Symptoms and signs included: headache in 34; weakness, fatigue and lassitude in 26; dizziness in 16; pruritus and skin eruptions in 37; gingivitis, teeth loss and caries in 34; nasal congestion, nosebleeds and anosmia in 30; cough, phlegm production, wheezing and shortness of breath in 26; "asthma" in 14; bone pain in 18; urinary frequency, beta 2 microglobulinuria and kidney stones in 17; and sterility or multiple abortions (33) in 8 of 21 women. One additional patient had died from an "amyotrophic lateral sclerosis-like syndrome", while CT scans in six workers revealed brain atrophy. One other worker had leukemia, and two had died from cancer (lung and pancreas). Those who had worked for more than 10 years had more symptoms and signs than shorter-term employees, especially neurological illness, bone pain and urinary tract problems, including beta 2 microglobulinuria. Past blood and urinary cadmium levels were in the range of 1.6-8.7 micrograms/dl and 8-306 micrograms/l, respectively. Our findings indicated that: a) health risks for workers were not confined to the nickel-cadmium assembly line or to older workers, b) hazardous exposures still existed and illness appeared in new workers after a clean-up and intervention program, and c) exposures involved increased risks for renal disease and cancers. Finally, there is a need to control exposures and determine health risks in the full cohort of those ever employed, in the workers' children, and in the surrounding environment (air, ground, water) due to the dumping of waste from the plant.
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PMID:Medical findings in nickel-cadmium battery workers. 142 13

Respiratory symptoms in cystic fibrosis are both local and systemic. The local symptoms include cough, sputum, wheezing, haemoptysis and breathlessness, while systemic symptoms of malaise and fever occur with pulmonary infection. There are also interactions between respiratory and gastrointestinal systems in producing symptoms of malaise and weakness and these also contribute to the secondary psychological and social problems that a number of patients with cystic fibrosis experience. These local respiratory symptoms can be attributed in part to lung damage, but are also a manifestation of the CF defect itself. Similarly, lung damage, allergy, haemodynamic and nutritional changes all contribute to the symptom of breathlessness. Further improvement in symptoms in the future will come not only from limiting the lung damage but also from therapy aimed at reversing the CF defect itself.
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PMID:Cystic fibrosis--from lung damage to symptoms. 270 25

Life threatening asthma is a serious condition that is often difficult to treat. Often, despite maximal medical therapies, these patients remain functionally crippled. In addition, older patients are even more susceptible to asthma as they are less able to adapt to or tolerate the symptoms. In this paper we report the effectiveness of a new treatment regimen of high-dose intramuscular triamcinolone (360 mg) in 7 elderly patients with severe, chronic, steroid-dependent asthma. Each patient was given one intramuscular injection of 360 mg of triamcinolone (Kenalog) after maximizing traditional medicines. All 7 patients experienced resolution of their asthma symptoms within 1 week of receiving this injection. They showed marked functional improvement in their activities of daily living, and independence. Six of seven progressed from being homebound to walking, shopping, and grooming without restriction. All had a corresponding rise in peak expiratory flow rates ranging between 25 and 93%. In addition, all were able to stop taking their daily oral prednisone. Response durations ranged from 3 to 24 months. In the 6 patients who experienced relapse, all requested and received a second injection, with similar positive outcomes. Some experienced transient weakness and diabetes during the first week of the therapy but all elected to receive additional shots when they experienced break-through wheezing. Thus, we feel that high-dose intramuscular triamcinolone should be considered as a therapeutic option for a highly select group of older steroid-dependent asthma patients.
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PMID:Effect of high-dose intramuscular triamcinolone in older adults with severe, chronic asthma. 811 14

We describe the clinicopathologic features of 10 patients with recurrent unexplained flushing. These patients were referred to the National Institutes of Health with a diagnosis of mastocytosis or idiopathic anaphylaxis. Both diagnoses were eliminated after evaluation. Patients reported attacks of flushing lasting 15 minutes to 2 days and associated with such symptoms as anxiety, chest tightness, paresthesia, slurred speech, weakness, and pruritus. Abdominal pain was a constant feature, often associated with cramping and an increase in stool frequency. Attacks witnessed by physicians consisted of an exaggerated blush response of the face and upper part of the chest, and were sometimes associated with tachycardia, mild hypertension, and tachypnea. Hives, angioedema, wheezing, and hypotension were not observed. Routine laboratory studies and 5-hydroxyindoleacetic acid, vanillylmandelic acid, and plasma histamine levels were normal. Plasma histamine levels did not elevate during attacks. When performed, results of bone marrow examinations, skin biopsies, and bone scans were normal. Psychiatric examinations frequently revealed somatization disorders. Patients had often been prescribed a wide variety of medications including antihistamines, nonsteroidal anti-inflammatory drugs, and steroids, with little or no benefit. Despite the benign nature of the clinical and laboratory findings, patients had undergone repeated, often invasive, examinations for several years. Whether such patients have a prominent flush response exaggerated through a somatization disorder or a relatively benign flushing disorder associated with putative mediator release remains to be determined. Recognition of this category of patients with unexplained flushing will avoid subjecting such patients to unwarranted repeated examinations, procedures, and inappropriate therapy.
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PMID:A clinicopathologic study of ten patients with recurrent unexplained flushing. 830 82

A syndrome of acute pulmonary edema has been previously reported among scuba divers in cold, European waters. Because of the temperatures involved, the name "cold-induced pulmonary edema" was coined in the original 1989 description. We report six individuals who developed the identical syndrome, five while diving in Puget Sound and one in the Gulf of Mexico. The four women and two men ranged in age from 24 to 60 yr. They experienced one to six episodes apiece, each with the development severe dyspnea at depth without excessive exertion. Associated symptoms included cough, weakness, expectoration of froth, chest discomfort, orthopnea, wheezing, hemoptysis, and dizziness. Emergency medical evaluation of four divers revealed rales on examination and pulmonary edema on chest radiograph. In one diver with pulmonary edema on chest radiograph, pulmonary capillary wedge pressure was normal when measured acutely. Symptoms resolved either spontaneously over 1-2 days or with standard medial treatment for pulmonary edema. Prior history of cardiovascular disease was negative except for hypertension and mitral valve prolapse in one diver. Cardiac evaluations following recovery from the acute episodes were normal. Episodes in the cold waters of Puget Sound sometimes occurred despite the use of dry suits. Furthermore, one diver developed recurrent episodes in 27 degrees C water off Cozumel, Mexico. Development of pulmonary edema while scuba diving constitutes a distinct clinical entity which may occur in either "cold" or "warm" water. It is not associated with a decompression mechanism. Personnel caring for divers should be aware of the syndrome in order to provide optimal medical management.
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PMID:Pulmonary edema of scuba divers. 906 53

Three children with tracheomalacia had tracheal reinforcement with free three-quarter circumference ring grafts of autologous cartilage taken from the costal margin. A low cervical manubrium-splitting approach gave excellent access to the anterior mediastinum and the intrathoracic trachea in two children. The first child, a neonate with oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF), had 11 grafts to support the whole of the trachea from the cricoid to the carina and never required a tracheostomy. For the first 5 years she had frequent pneumonic episodes and on one occasion bilateral pneumothoraces. These episodes and radiographic lung hyperinflation, attributed to distal bronchomalacia, have reduced spontaneously in frequency and severity. At 9 years of age she has a well-supported trachea with palpable cartilage rings in the cervical segment. The trachea has grown to approximately 75% of expected normal size for her age. Another child with tracheomalacia related to innominate-artery compression and who presented with 'dying episodes' was completely relieved and resumed a normal life without a tracheostomy following insertion of four grafts to the intrathoracic trachea. He remains well and symptom-free 8 months postoperatively. A third child had cartilage-graft reinforcement of the lower cervical trachea, including the tracheostomy site, to achieve tracheostomy closure at 16 months of age. Five years later he continues to have a well-supported trachea showing acceptable growth. However, he has ongoing evidence of tracheo-bronchomalacia presenting as expiratory wheezing, lung hyperinflation, and pneumonic episodes that are diminishing spontaneously with growth. Our experience, limited to three children, recommends primary tracheal reinforcement with autologous free costal-cartilage grafts for tracheomalacia in the neonate and young infant. This procedure and the anterior mediastinal approach are well-tolerated, providing instant tracheal support, removing the need for a tracheostomy, and allowing the child's rapid return to the family. Long-term follow-up, presently 9 and 5 years in two children originally presenting with OA and TOF, indicates adequate tracheal growth and an aesthetically acceptable appearance. It is relevant to prognosis that relief of the life-threatening tracheal component exposed the full extent of the bronchial cartilaginous weakness, which has significantly detracted from the quality of life for these two children with OA and TOF-related tracheomalacia.
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PMID:Tracheal ring-graft reinforcement in lieu of tracheostomy for tracheomalacia. 979 74

The patient had been feeling remarkably well 24 hours post-operatively. She remained on intravenous feeding and medication, although she was ambulatory. That afternoon, she realized something was wrong. She was experiencing an overall, generalized weakness, difficulty breathing, and wheezing. In response to her breathing problems, she had used her Serevent (once in the morning) and albuterol inhalers (every four hours), but had achieved no relief. It wasn't until 10:00 p.m. that evening, when she questioned whether or not she had received her dose of prednisone that day which she had been on prior to surgery, that the problem was identified. Despite a detailed history of medication changes, which had been recorded and reported to the anesthesia department prior to surgery, the prednisone dose had been missed.
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PMID:Narrowing the margin of error. 1069 94

Anaphylactic shock is a life-threatening allergic reaction with cardiovascular collapse. The cardiovascular collapse may occur suddenly without warning signs or may be preceded by symptoms such as pruritus, wheezing, dyspnea, urticaria, pallor, digestive symptoms, and weakness. Food allergens, injected drugs and hymenoptera stings are the main etiologies. Anaphylactic shock requires an emergency treatment with immediate intramuscular or subcutaneous epinephrine injection. Subsequent avoidance of the inciting allergens is mandatory together with the availability of a first aid kit including ready-to-use epinephrine syringes. Besides its absolute necessity in any doctor's office, such first aid kits should be available in any children's group.
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PMID:[Anaphylactic shock in the infant]. 1114 73

Allergies to sperm are very uncommon. A 23-year old woman with atopic dermatitis complained of three attacks of angioedema, urticaria, wheezing and weakness. When questioned about factors causing exercise-induced anaphylaxis, the patient reported having had sexual intercourse with the same partner one hour before each event. When using condoms, no symptoms occurred. Human seminal plasma allergy was confirmed by positive skin testing with the partner's sperm. Specific IgE-antibodies against human seminal plasma were not found. The patient received an emergency kit for anaphylaxis.
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PMID:Human seminal plasma allergy--a rare cause of recurrent anaphylaxis. 1722 3

Biotinidase deficiency is a treatable cause of severe neurological disorders and skin problems. Spinal cord impairment is a rare complication of this disease and is commonly unrecognized. The authors encountered 3 Chinese patients with progressive spinal cord demyelination associated with biotinidase deficiency. Case 1 exhibited fatigue, proximal muscular weakness, and hypotonic paraplegia from the age of 7 years 4 months. Demyelination of cervical and thoracic cord was evident on magnetic resonance imaging (MRI). Case 2 developed visual impairment, blepharoconjunctivitis, and optic nerve atrophy from 5 years of age, which combined with progressive hypertonic paralysis, ataxia, and alopecia from the age of 7 years. His spinal MRI T2-weighted sequence revealed an extensive hyperintense lesion involving the cervical spinal cord C(2) to C(4). Bilateral optic nerves were significantly thick. In case 3, intercurrent wheezing, tachypnea, dyspnea, and lethargy occurred from the age of 1 year. Medulla and upper cervical spine edema and demyelination were found on MRI. Markedly elevated urine organic acids and decreased blood biotinidase activities were observed in the 3 patients. Biotin supplementation led to a dramatic improvement of clinical symptoms in 3 patients. The findings indicate that biotinidase deficiency should be considered in the differential diagnosis of unexplained spinal cord demyelination because prompt diagnosis and treatment with biotin may enable an excellent recovery.
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PMID:Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. 1762 76


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