Objective: A statement recently published on the base of a large retrospective analysis, report that the occipital intermittent rhythmic delta activity (OIRDA) “is associated with epilepsy but not acute encephalopath...Objective: A statement recently published on the base of a large retrospective analysis, report that the occipital intermittent rhythmic delta activity (OIRDA) “is associated with epilepsy but not acute encephalopathy”[Gullapalli and Fountain. J Clin Neurophysiol 2003;20:35-41]. Our aim is to report, the exception from a child with an intermittent fever, in which the finding of an occipital intermittent rhythmic delta activity (OIRDA) following the eye closure in the EEG recording was the first clinical sign addressing to a CNS involvement. Methods: To review the record from a five-year-old girl with a normal basal electroencephalogram and OIRDA that only appeared following eye closure. Results: We found OIRDA associated with atypical CNS Salmonellosis. Brain MRI and CSF examination confirmed an acute encephalopathy, which was due to Salmonella infection. The only symptoms of the infection were episodes of nightly fever that had lasted for four weeks, sometimes associated with headache and vomiting. Both OIRDA only induced by eye closing and other symptoms disappeared after starting antimicrobial therapy. Conclusions: OIRDA only following eye closure is a non-specific abnormality and the present findings, based on a single case, merely indicate that intracranial infection is among the possible causes. Significance: The new clinical association is certainly worth recording, as the presence of this electrophysiological sign may provoke clinicians to then delve further into a diagnostic work up.展开更多
Goals: The aim of this study is to investigate whether there were any association between the 102 T/C and-1438 G/A polymorphisms of the 5-HT2A receptor gene and IBS, and abdominal pain, anxiety and depression. Backgro...Goals: The aim of this study is to investigate whether there were any association between the 102 T/C and-1438 G/A polymorphisms of the 5-HT2A receptor gene and IBS, and abdominal pain, anxiety and depression. Background: Genes involved in serotonin (5-HT)metabolism are good candidates for the pathogenesis of irritable bowel syndrome (IBS). Recently, a silent polymorphism in the 5-HT2A receptor gene was identified that is defined by a T to C transition at position 102. Also, a novel G to A base change at position-1438 of the promoter region has been detected in 5-HT2A receptor gene. Study: Fifty-four patients with IBS diagnosed according to the Rome 1 criteria and 107 healthy individuals were included in the study. PCR was used to amplify a 468-bp (G→ A) and 342-bp (T→ C) fragment of genomic DNA containing the polymorphism. Hospital anxiety and depression scale was used to assess the risk of depression and anxiety. Severity of chronic abdominal pain was determined by visual analogue scale (VAS). Results: It was shown that there was a high incidence of homozygote C allele of the 102T/C polymorphism (22.2% ; OR: 7.89, P =0.04) and homozygote A allele of the-1438 G/A promoter region (37% ; OR: 11.14, P = 0.01) in patients with IBS.The risk of having an anxiety disorder was 83.3% in patients with C/C genotype, which was higher than other allele carrying patients, and overall mean (52.7% ). (x2 = 8.56, P = 0.014). The patients with T/T genotype had a VAS score of 54.93 ± 2.59 mm, which was significantly higher than that of the patients with other genotypes (p1= 0.02, p2 = 0.001). Conclusion: This study suggests that the patients with homozygote C allele of the 102 T/C polymorphism of the 5-HT2A receptor gene, have a high risk of IBS. On the other hand, T/T genotype of 102T/C polymorphism may be associated with more severe pain in patient with IBS.展开更多
The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, ye...The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, yet who had undetectable arginine vasopressin (AVP) levels. We hypothesized that they had gain-of-func tion mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each pati ent’s V2R gene (AVPR2) identified missense mutations in both, with resultant ch anges in codon 137 from arginine to cysteine or leucine. These novel mutations c ause constitutive activation of the receptor and are the likely cause of the pat ients’SIADH-like clinical picture, which we have termed “nephrogenic syndrome of inappropriate antidiuresis.”展开更多
文摘Objective: A statement recently published on the base of a large retrospective analysis, report that the occipital intermittent rhythmic delta activity (OIRDA) “is associated with epilepsy but not acute encephalopathy”[Gullapalli and Fountain. J Clin Neurophysiol 2003;20:35-41]. Our aim is to report, the exception from a child with an intermittent fever, in which the finding of an occipital intermittent rhythmic delta activity (OIRDA) following the eye closure in the EEG recording was the first clinical sign addressing to a CNS involvement. Methods: To review the record from a five-year-old girl with a normal basal electroencephalogram and OIRDA that only appeared following eye closure. Results: We found OIRDA associated with atypical CNS Salmonellosis. Brain MRI and CSF examination confirmed an acute encephalopathy, which was due to Salmonella infection. The only symptoms of the infection were episodes of nightly fever that had lasted for four weeks, sometimes associated with headache and vomiting. Both OIRDA only induced by eye closing and other symptoms disappeared after starting antimicrobial therapy. Conclusions: OIRDA only following eye closure is a non-specific abnormality and the present findings, based on a single case, merely indicate that intracranial infection is among the possible causes. Significance: The new clinical association is certainly worth recording, as the presence of this electrophysiological sign may provoke clinicians to then delve further into a diagnostic work up.
文摘Goals: The aim of this study is to investigate whether there were any association between the 102 T/C and-1438 G/A polymorphisms of the 5-HT2A receptor gene and IBS, and abdominal pain, anxiety and depression. Background: Genes involved in serotonin (5-HT)metabolism are good candidates for the pathogenesis of irritable bowel syndrome (IBS). Recently, a silent polymorphism in the 5-HT2A receptor gene was identified that is defined by a T to C transition at position 102. Also, a novel G to A base change at position-1438 of the promoter region has been detected in 5-HT2A receptor gene. Study: Fifty-four patients with IBS diagnosed according to the Rome 1 criteria and 107 healthy individuals were included in the study. PCR was used to amplify a 468-bp (G→ A) and 342-bp (T→ C) fragment of genomic DNA containing the polymorphism. Hospital anxiety and depression scale was used to assess the risk of depression and anxiety. Severity of chronic abdominal pain was determined by visual analogue scale (VAS). Results: It was shown that there was a high incidence of homozygote C allele of the 102T/C polymorphism (22.2% ; OR: 7.89, P =0.04) and homozygote A allele of the-1438 G/A promoter region (37% ; OR: 11.14, P = 0.01) in patients with IBS.The risk of having an anxiety disorder was 83.3% in patients with C/C genotype, which was higher than other allele carrying patients, and overall mean (52.7% ). (x2 = 8.56, P = 0.014). The patients with T/T genotype had a VAS score of 54.93 ± 2.59 mm, which was significantly higher than that of the patients with other genotypes (p1= 0.02, p2 = 0.001). Conclusion: This study suggests that the patients with homozygote C allele of the 102 T/C polymorphism of the 5-HT2A receptor gene, have a high risk of IBS. On the other hand, T/T genotype of 102T/C polymorphism may be associated with more severe pain in patient with IBS.
文摘The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, yet who had undetectable arginine vasopressin (AVP) levels. We hypothesized that they had gain-of-func tion mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each pati ent’s V2R gene (AVPR2) identified missense mutations in both, with resultant ch anges in codon 137 from arginine to cysteine or leucine. These novel mutations c ause constitutive activation of the receptor and are the likely cause of the pat ients’SIADH-like clinical picture, which we have termed “nephrogenic syndrome of inappropriate antidiuresis.”
