Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1291077 (bloating)
 1,674 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence of signs and symptoms in the Rett syndrome (RS) was analyzed in a series of females born 1945-87 (median age 17 1/2 years) and fulfilling the diagnostic criteria for classic RS. For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related subgroups: the youngest 20, born 1980-87 (group B); the 34 girls born 1970-79 (group C); and the oldest 37, born 1945-69 (group D). Data from group A indicated a developmental stagnation (stage I) at median age 11 (5-24) months and loss of ability to use acquired skills (stage II) at 19 (12-36) months. Group B displayed subtle prodromes in the first months of life, and later in infancy gross motor delay with insufficient equilibrium control. Development invariably came to a definite break at a crucial stage of maturation and was followed by a remarkable "awakening" and return of interest to act and interact (stage III). Loss of skills belonged to the triad contact/communication, hand use/skill, and babble/words. By age 2 1/2 years, apraxia and involuntary and stereotyped movements, were found in all. Seizures, hyperventilation and spells of screams and laughter were more frequent in group C (94%, 65% and 71%, respectively), and breathholding, bloating and drooling in group D (73%, 43% and 81%, respectively). Plantar flexion and abiotrophy of feet, as well as peroneal weakness and scoliosis, increased with age and was found in 89%, 86%, and 89%, respectively. The sequence of events described, emerged as subtle insufficiency and more or less abruptly turned into loss. Conversely to known progressive encephalopathies, the deterioration was followed by excess of activity, only years later to turn into restriction.
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PMID:Age-related occurrence of signs and symptoms in the Rett syndrome. 137 44

Scoliosis is a common complication in children with cerebral palsy (CP). In these patients, surgical correction carries a high risk of complications. CP is also associated with gastrointestinal dysmotility such as delayed gastric emptying and gastro-oesophageal reflux. We describe 5 patients with CP in whom symptoms of gastric dysmotility clearly exacerbated after orthopaedic scoliosis surgery. They all showed persisting vomiting, nausea, bloating, weight loss, and anorexia necessitating total parental nutrition and/or jejunal feeding. This intensified nutritional support resulted in weight gain. Symptoms, however, persisted in half of the patients. The aetiology of these gastro-intestinal motility problems following scoliosis surgery remains unclear. Mechanical obstruction needs to be ruled out. Delayed gastric emptying may be due to postprandial antral hypomotility as a consequence of sympathic stimulation. Malnutrition could further aggravate gastrointestinal dysmotility. This complication should be taken into account when surgery for spinal deformities in CP patients is planned, especially in patients with pre-existing gastrointestinal motility problems.
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PMID:Gastric dysmotility following orthopaedic scoliosis surgery in patients with cerebral palsy: a case series. 2108 23

Congenital myasthenic syndromes (CMS) are heterogeneous disorders of neurotransmission caused by genetic mutations of neuromuscular junction molecules. We report anesthetic management of a CMS patient who was a 14-year-old boy with endplate acetylcholinesterase deficiency. The patient used noninvasive positive pressure ventilation (NPPV) at night. He underwent a corrective maneuver for severe scoliosis under general anesthesia. General anesthesia was maintained using propofol and remifentanil. Intraoperative mechanical ventilation remained stable. Extubation was performed on the next day and NPPV was started. Several hours later, he complained of a stomachache and intense abdominal bloating. Computed tomography revealed a massive amount of air in the stomach and intestine. He recovered from abdominal bloating the next day without treatment for decompression. Lung-thoracic compliance has been reported to decrease immediately after a corrective maneuver for scoliosis patients. In our case, we suspected a relative increase of abdominal compliance to lung-thoracic compliance as a cause of intense abdominal bloating by air injection from NPPV with his daily setting. In CMS, symptoms, therapy and contraindicated drugs vary according to the location of dysfunction. Therefore, anesthetic management according to each genotype should be designed to avoid drugs that could either trigger or worsen CMS. Intensive respiratory care is advisable after surgery.
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PMID:[Anesthetic management of scoliosis surgery for a patient with congenital myasthenic syndrome]. 2519 31