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)

A deazaguanine-substituted DNA PCR product from FMR-1 (the fragile X mental retardation syndrome gene) can be efficiently visualized with ethidium bromide on standard agarose gels. Normal-sized alleles (less than 54 CGG repeats) generated strong, easily visible bands in the expected size range of 491-635 bp. Southern blot analysis and radioactive PCR on sequencing gels were used to verify that the 74 males (out of 245 total tested) whose DNA failed to generate a visible band contained premutations or full mutations. This technique can be used as an inexpensive screen for fragile X syndrome among developmentally delayed males.
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PMID:A simple fragile X PCR assay with 7-deazaguanine-substituted DNA visualized by ethidium bromide. 793 15

We report on a method for ethidium bromide detection of FMR1 normal and premutation-size CGG triplet repeats. A set of PCR conditions has been optimized for the polymerase of the hyperthermophilic bacterium, Pyrococcus furiosus. Using this protocol, normal-size alleles ranging from 5 to 50 repeats, as well as most of premutation-size alleles, varying from > 50 to approximately 200 repeats, could be detected by ethidium bromide staining of agarose gels. Since the protocol requires neither autoradiography nor polyacrylamide gel electrophoresis, it promises to provide a rapid means for the exclusion of fragile X syndrome in males with mental retardation.
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PMID:Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. 794 34

Mutations in the T3-binding domain of the thyroid hormone receptor gene c-erbA beta result in dominant negative proteins and thyroid hormone resistance syndromes. Variable clinical manifestations of resistance to thyroid hormones have been reported, including short stature and neuropsychological abnormalities. The molecular bases for heterogeneity of phenotype among and within kindreds have not been fully elucidated. Recent investigations have considered differential expression of mutant and wild-type beta 1-receptor alleles and the regulation thereof as a mechanism to explain differential sensitivity to thyroid hormones. We used reverse transcription-competitive polymerase chain reaction (PCR) to measure c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 mRNAs in skin fibroblasts cultured from normal subjects, heterozygotes, and a severely affected homozygous mutant of kindred S. The homozygous mutant of kindred S had severe growth and mental retardation. After reverse transcription with primers specific for each of the c-erbA mRNAs, first strand cDNAs were amplified by PCR using subtype-specific amplimers. Primer design allowed simultaneous detection of wild-type and mutant messages in heterozygous fibroblasts and showed an approximately 1:1 ratio of these mRNAs in three patients. Inclusion of competitive standard cDNAs of known concentration in the PCR reactions allowed quantitation of the absolute levels of the beta 1-, alpha 1-, and alpha 2 mRNAs by comparison of products on ethidium bromide-stained agarose gels. These studies showed no effect of the presence of the mutant beta 1-allele, as fibroblast RNA from normal subjects, heterozygotes, and the homozygote gave values of 56-184, 2.8-12, and 23-40 attomol/5 micrograms total RNA for beta 1-, alpha 1-, and alpha 2 mRNAs, respectively. We conclude that these sensitive methods allow the detection of molecular species present at levels as low as 10 molecules/cell, and that this potent dominant negative receptor does not disrupt c-erbA expression at the level of mRNA. The neuropsychological sequelae of the kindred S mutation are not due to relative overexpression of the mutant allele.
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PMID:Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance. 840 73

We present a child with Lenz dysplasia associated with panhypopituitarism. Lenz dysplasia is characterized by small eyeball, small head, hydronephrosis, cleft lip and palate, and mental retardation. A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. We had to pay attention for airway management and hormone supplementation. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. Tracheal intubation was facilitated with vecuronium bromide. We had no difficulty in airway management. Since this patient could not release enough endogenous cortisol in response to the stress of surgery, we supplemented hydrocortisone after anesthesia induction. Urine output and serum electrolyte concentrations were carefully monitored during surgery because of the impaired ADH response. We encountered no complications in the anesthetic management of this patient.
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PMID:[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism]. 978 90

Coffin-Lowry syndrome (CLS) is characterized by mental retardation, a peculiar face and deformities of the thorax and spine. A 33-year-old female with Coffin-Lowry syndrome (CLS), further complicated with atrial septal defect and ventricular tachycardia, underwent elective surgery for anterior cervical cyst. As difficult intubation had been anticipated, anesthesia was induced with continuous administration of propofol. After confirming that she could be ventilated by mask, vecuronium bromide, midazolam and fentanyl were given. The operation and anesthesia were conducted uneventfully. No complications occurred postoperatively. The use of propofol for slow induction of anesthesia was advantageous for hemodynamic stability in this case.
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PMID:[Anesthetic management of a patient with Coffin-Lowry syndrome]. 1051 84

Williams syndrome is characterized by the triad of supravalvular aortic stenosis (SAS), mental retardation and elfin facies. Generally, difficult airway is expected in patients with Williams syndrome by characteristic face. A 26-year-old female with Williams syndrome was scheduled for abdominal myomectomy under general anesthesia. Difficult mask ventilation and tracheal intubation were anticipated because of micrognathia, mandibular retrusion, and a Mallanpati class III airway. Before induction of anesthesia the patient breathed 100% oxygen for 3 minutes. Anesthesia was induced and maintained with propofol, remifentanil and rocuronium bromide. Mask ventilation was easily performed. The direct laryngoscopic view was Cormack grade I and there was no difficulty in the tracheal intubation. After induction of anesthesia, anesthetic course was uneventful. According to the most previous clinical reports in patients with Williams syndrome in Japan, mask ventilation and tracheal intubation were performed easily contrary to preoperative airway assessment. In view of SAS, mental retardation, airway deformity and airway assessment in previous clinical reports, we should select the optimal strategy for airway management in patients with Williams syndrome.
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PMID:[Airway management in a patient with Williams syndrome]. 2211 59