Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the prognoses of 103 children with acute encephalopathy at more than one year from the onset. The patients were divided into five groups according to the clinical courses during the acute stage;group 1:1 case with metabolic disorder, group, 2:24 with cytokine storms, group, 3:68 with prolonged convulsion more than 30 minutes, group, 4:5 with severe refractory status epilepticus, and group, 5:5 with the main symptom of impaired consciousness. We checked the past histories, etiologies, severities of consciousness loss, complications and disabilities including higher cortical dysfunction in their medical charts. The average age of onset in all cases was 3 years, with the highest age of 6 years 5 months in group 4. Regarding the past histories, febrile seizures, asthma and theophylline medication were prominent though they were not significantly different. Regarding etiologies, influenza infection, 36 cases, and HHV-6 infection, 7 cases, were prominent though they were not significantly different. Complicating disabilities comprised mental retardation, 89.3%, higher cortical dysfunction, 77.7%, epilepsies, 68.9%, and motor disturbance, 27.2%. The severity of disabilities increased in the order of 1, 2, 3, 4, 5. Attention deficit and visiospacial disturbance were the main symptoms of higher cortical dysfunction.
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PMID:[Prognoses of acute encephalopathy]. 2180 Jun 92

Human embryonic stem cells (hESCs) have the potential to revolutionize many biomedical fields ranging from basic research to disease modeling, regenerative medicine, drug discovery, and toxicity testing. A multitude of hESC lines have been derived worldwide since the first 5 lines by Thomson et al. 13 years ago, but many of these are poorly characterized, unavailable, or do not represent desired traits, thus making them unsuitable for application purposes. In order to provide the scientific community with better options, we have derived 12 new hESC lines at New York University from discarded genetically normal and abnormal embryos using the latest techniques. We examined the genetic status of the NYUES lines in detail as well as their molecular and cellular features and DNA fingerprinting profile. Furthermore, we differentiated our hESCs into the tissues most affected by a specific condition or into clinically desired cell types. To our knowledge, a number of characteristics of our hESCs have not been previously reported, for example, mutation for alpha thalassemia X-linked mental retardation syndrome, linkage to conditions with a genetic component such as asthma or poor sperm morphology, and novel combinations of ethnic backgrounds. Importantly, all of our undifferentiated euploid female lines tested to date did not show X chromosome inactivation, believed to result in superior potency. We continue to derive new hESC lines and add them to the NIH registry and other registries. This should facilitate the use of our hESCs and lead to advancements for patient-benefitting applications.
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PMID:Derivation of novel genetically diverse human embryonic stem cell lines. 2220 97

Aspiration of a foreign body into the tracheobronchial tree is rare in adults. In the majority of these cases there is an underlying condition such as mental retardation, depressed mental status, impairment in the swallowing reflex, neurological impairment, alcohol or sedative abuse, or complications from dental manipulations that contributed to the aspiration. These patients are commonly misdiagnosed with asthma and typically do not respond to mainstay anti-inflammatory and/or bronchodilator therapy. We describe the case of a patient with a foreign body aspiration in the upper trachea not recognized by radiographic studies that presented with asthma-type symptoms.
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PMID:Foreign body aspiration presenting with asthma-like symptoms. 2445 97

We administered general anesthesia for a patient with 8 trisomy mosaic and cerebral palsy. Constitutional 8 trisomy mosaic has been associated with syndromic dysmorphology, corneal opacities, leukemia and trophoblastic disease. In Japan only 4 reports of general anesthesia related with 8 trisomy were found. This patient was a 24-year-old woman (140 cm, 35 kg), with mental retardation, poor body development and severe scoliosis. Since she suffered from repeated serious asthma and pneumonia since childhood, tracheotomy was performed at the age of 9. Epileptic seizures were also seen and antiepileptics were prescribed. This time, general anesthesia was scheduled for the extraction of a maxillary cyst. Anesthesia was induced slowly with sevoflurane from the tracheotomy, followed by rocuronium 25 mg i.v., and maintained with sevoflurane 1.5-2 % and remifentanil 0.05-0.2 microg x kg(-1) x min(-1) Throughout the operation, BIS score fluctuated between 40-60, and stable anesthesia was maintained. We reversed the rocuronium with sugammadex 140 mg promptly. The 8 trisomy mosaic patient is known to have various complications related to circulation and respiration. Careful management is necessary in anesthesia for an 8 trisomy patient.
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PMID:[Anesthetic management of a patient with 8 trisomy mosaic combined with cerebral palsy]. 2478 18

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.
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PMID:A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. 2746 57


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