Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344307 (analgesia)
 28,200 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital insensitivity to pain with anhidrosis is a rare disorder. Its primary clinical features include congenital analgesia, which leads to self-mutilation; inability to sweat, which leads to defective thermoregulation; and mental retardation. A five-year-old boy with consanguineous parents and no family history of the disorder presented with ulcerating lesions on both knees and elbows. His family had discovered the lack of sensation to pain and anhidrosis. Physical examination revealed ulcers on both knees and elbow, self-mutilation of the tongue, fingers, and toes. Sensation to touch was intact and lacrimation was normal. Moderate mental retardation and analgesia were noted in an otherwise normal neurologic examination. The results of electromyographic examination were normal and the application of pilocarpine showed anhidrosis. A skin biopsy specimen was also examined.
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PMID:Congenital insensitivity to pain with anhidrosis. 768 77

Watson's syndrome is an uncommon genetic disorder whose features include mental retardation and pulmonary valvular stenosis. The purpose of this report is to describe one management strategy used successfully to anaesthetize a woman with this disorder who presented for Caesarean section. Epidural anaesthesia using 0.5% bupivacaine without epinephrine in 2-3 ml boluses to a total dose of 15 ml was administered over 30 min. Invasive haemodynamic monitoring in the form of arterial and central venous catheters were used to guide therapy and help ensure maternal and fetal well-being. Intravenous ketamine in doses of 10-20 mg every five minutes to a total dose of 245 mg (4.5 mg.kg-1) was used to overcome the patient's uncooperative nature and facilitate invasive procedures. Postoperative analgesia was provided using 3 mg epidural morphine. The patient was observed in the intensive care unit for the first postoperative day and experienced an uncomplicated intra- and postoperative course. We conclude that this technique represents a safe and effective method for anaesthetizing patients with this complicated problem for Caesarean section.
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PMID:Anaesthesia for caesarean section in a patient with Watson's syndrome. 782 60

Congenital insensitivity to pain with anhidrosis is one of a group of rare diseases termed hereditary sensory-motor neuropathies. Primary clinical features of this entity include congenital analgesia, inability to sweat, and mental retardation. Besides the rarity of these clinical entities, difficulty in evaluating the sensory disturbances, especially in small children, makes the diagnosis a clinical problem. In this article a 3-year-old boy, with consanguineous parents and no family history of the disorder, who was evaluated for two years because of ulcerating lesions on his knees, is presented. Physical examination revealed deep ulceration on his knees and scars from burns on his neck and scalp. Moderate mental retardation and analgesia were noted. There was symmetrical loss of pain and touch sensation on his hands and feet. Electromyographic examination showed absence of action potentials of the ulnar and sural nerves, decrease in the sensory and motor nerve conduction velocities, and amplitude of action potentials. The result of the application of pilocarpine showed anhidrosis. His skin and nerve biopsy specimens were also examined.
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PMID:Congenital insensitivity to pain with anhidrosis. 934 32

Agranulocytosis induced by metamizole is uncommon, with a frequency of less than one case per million treatments. We describe such a case in a patient requiring emergency surgery. An 85-year-old man with a history of infantile paralysis with mental retardation and Paget's disease and X-ray signs of the right femur came to the emergency room with a diaphysial fracture. He received 1 g metamizole i.v. every 8 hours for analgesia. Ten hours after admission a routine blood cell count showed a rapid fall in the number of leukocytes; at 24 hours the count was 600 x 10(9)/l. The diagnosis was agranulocytosis induced by metamizole. Postponement of surgery was advisable and treatment with granulocyte colony stimulating factor (GCSF) at a dose of 5 micrograms/kg/day. Agranulocytosis resolved after 3 days of treatment, after which time the bone was set with a straight femoral plate under subarachnoid anesthesia. Two packs of red blood cells were required during the immediate postoperative period. Twelve days after surgery the patient was released. We review the anesthetic approach to agranulocytosis and its treatment.
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PMID:[Agranulocytosis caused by metamizol. Anesthetic attitude]. 971 23

Congenital analgesia can vary from simple analgesia without any systemic dysfunction to more serious conditions associated with peripheral neuropathy, self-mutilation, and mental retardation. Prevention of injury is important for normal growth of the child.
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PMID:Congenital indifference to pain. 1077 33

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autonomic recessive disorder characterized by congenital analgesia, absence of sweating and mental retardation. Because of these abnormalities, the anesthetic managements in patients with CIPA deserve special attention. Here we report a 22-year-old man with CIPA receiving left above-knee amputation due to severe lower extremity infection. General anesthesia was maintained with desflurane, an intervention that has never been reported, and the whole course of operation was uneventful. This is also the first reported case of CIPA in Taiwan.
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PMID:Desflurane used in a patient with congenital insensitivity to pain with anhidrosis during septic shock. 1536 9

Bardet-Biedl syndrome is a rare autosomal recessive disease characterized by renal abnormalities, obesity, dysmorphic extremities, retinal dystrophy, and hypogenitalism, as well as cardiac abnormalities, diabetes mellitus, hypertension and mental retardation. Renal failure is the leading cause of death and survival is substantially reduced. We describe the anesthetic management of a patient with Bardet-Biedl syndrome, dilated cardiomyopathy and fractured right femur and tibia requiring open reduction and internal fixation. A combined spinal-epidural (CSE) block was performed; 7.5 mg of bupivacaine and 20 microg of fentanyl were administered into the subarachnoid space. Postoperative analgesia was obtained with an epidural infusion mixture of bupivacaine (0.125%) and fentanyl (1 microg/mL). Hemodynamic status was monitored by direct measurement of intra-arterial blood pressure and central venous pressure. The perioperative course was uneventful.
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PMID:Anesthetic management of a patient with Bardet-Biedl syndrome and dilated cardiomyopathy. 1724 58

Opioids are used in clinical practice for sedation, anesthesia, and analgesia. Their effects depend on their pharmacokinetic and pharmacodynamic characteristics. The liver is the major site for the biotransformation of most opioids. The major metabolic pathway is oxidation. Metabolism influences distribution, clearance, onset, and offset of opioid drugs. Action also depends on the coupling of opioids with the class of receptors involved and on localization of specific receptors. Three major types of opioid receptors, designated as mu, delta, and kappa, present in the central nervous system, are coupled to G proteins and inhibit adenylyl cyclase. Down's syndrome is a congenital condition characterized by mental retardation and particular physical features. Neurotransmission alterations are important. Alteration in the concentration of opioids in the cortex of these patients has been demonstrated. Neurobiological abnormalities and, in some, abnormalities in the neurotransmission systems, anxiety, and, in particular, nociception all suggest that structural and functional alterations of opioid receptors may be present. A clear knowledge of these multiple abnormalities is essential for skillful management of the perioperative period and for a good outcome for patients with Down's syndrome.
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PMID:Opioids and Down's syndrome. 1731 25

Coffin-Siris syndrome is a rare genetic disease characterized by coarse facial features, sparse scalp hair, hirsutism, hypoplasia of the distal phalanges, hypoplastic nail in the fifth digit, and mental retardation and delayed growth evident in both weight and height. Most cases are sporadic, but the possibility of recessive or dominant autosomal inheritance has been suggested. Facial abnormalities that make intubation difficult and mental retardation that interferes with cooperation are aspects of this disease that can affect the choice of type of anesthesia. We report the case of a parturient with Coffin-Siris syndrome who refused epidural analgesia for labor pain and for whom the obstetrician later decided that an emergency cesarean was necessary due to fetal distress.
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PMID:[Emergency cesarean in a patient with Coffin-Siris syndrome]. 1808 10

Spontaneous pneumomediastinum (SP) is defined as the presence of free air in mediastinal space without any apparent cause. This rare entity is most likely to occur in young males often related to an episode of vomiting, asthma or sustained physical activity. SP usually resolves spontaneously in few days of treatment based on rest and analgesia. Complications are extremely rare. Its recurrence has been poorly reported but seems exceptional. We present a case of recurrent SP occurring in a 21-year-old male with a mental deficiency. The recurrence occurred after a free-interval of 12 months. We proposed a literature review.
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PMID:Recurrent spontaneous pneumomediastinum in an adult. 2229 Sep 30


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