Objective To study the relationship between the mRNA degradation in the retinal cells of rat after death and postmortem interval(PMI) in order to provide a new methods of inferring PMI.Methods The level of ?-actin,Pgk1 and Rpl 4 mRNA in the retinal cell of rat were measured at different time(0,2,4,6,8,10, 12,14,16,18,20,22,24,26,28h)after death by compound fluorescence RT-PCR.The rats executed immediately were used as controls.Results Within 28h after death,the absorbance value of total RNA and the level of ?-actin,Pgk1 and Rpl 4 mRNA in the retinal cells decreased along with the prolongation of PMI.The equations of linear regression fitting the relationship between mRNA degradation and PMI were as follows:Y?-actin=-4436.205X?-actin+127581.7(r2=0.976),Ypgk1=-1993.884Xpgk1+57651.54(r2=0.973),YRpl 4=-1189.791XRpl 4+34533.46(r2=0.955).The return model had remarkable statistical significance(P

Ataxins ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats

Objective To characterize emotional memory impairment in untreated patients with Parkinson' s disease (PD) in the early stages of the disease. Methods Emotional memory tasks using standardized sets of emotional pictures including positive, neutral and negative valence were tested in 33 untreated patients with PD in the early stages and 31 healthy controls matched with age, sex, and education.Results Compared with the healthy adults (13.4 ± 1.4), PD patients had significant loss of negative valence picture memorizing ( 8. 9 ± 1.0; t = - 14. 87, P ＜ 0. 01 ).There was no significant difference between PD patients and normal controls in positive ( 11.8 ± 1.0 vs 12. 4 ± 2. 2 , t = - 0. 95 ) and neutral (7.9 ± 1.4 vs 8.2 ± 1.3, t = - 0. 89) valence picture memorizing ( both P ＞ 0. 05 ). ConclusionThe emotional memory for negative valence pictures is impaired but the emotional memory for positive and neutral is relatively spared in early PD patients without treatment.

Objective To explore the characteristics of event-based prospective memory (EBPM) and time-based prospective memory (TBPM) impairments in patients with Parkinson's disease (PD). Methods EBPM and TBPM were examined in 87 PD patients and 85 healthy controls. And both of them were divided into two groups: aged group (≥60 years old) and non-aged group (＜60 years old). Results (1) The scores of EBPM were significantly lower in aged PD patients and non-aged PD patients than in age-matched control groups [(2. 5±0. 4) vs. (5.8± 1.3),(3.9±2.4) vs. (6.3±1.5), both P＜0. 01]. There were no significant differences in the scores of EBPM between aged PD patients or non-aged PD patients and their age-matched control groups [(3.6±0.5) vs. (3.8±0.8), (4.8±0.9) vs. (4.9±0.9), both P＞0.05]. (2)The Hoehn-Yahr grade in PD patients was significantly correlated with scores of EBPM, but not with scores of TBPM.Conclusions The patients with PD have an impairment in EBPM, but not in TBPM. The impairment of EBPM may be related to the disease severity of PD.

Objective To investigate the clinical features and pathogenic genes of a familial hypokalemic periodic paralysis ( HOKPP).Methods PCR amplification and DNA sequencing were used to screen candidate genes of the HOKPP family members (CACNA1S, SCN4A, KCNE3), and the clinical features were carefully analyzed at the same time.Results The sequencing analyses of the SCN4A gene in the proband identified three nucleotide sequence mutations, which influenced the amino acid sequence of the skeletal sodium channel.One of the mutations was identified as a C/T heterozygous pattern at the 2111th nucleotide position in exon 13, resulting in a change from Thr to Met at the 704th amino acid position of the sodium channel protein.All affected patients carried the Thr704Met mutation, whereas unaffected family members did not.Clinical symptoms in this family followed an autosomal dominant inheritance pattern.Muscles weakness, pain and hypokalemia in the period between attacks were seen in all patients.Paralytic symptoms occurred early, lasted longer and recurred frequently, while cold was the main predisposing factor.With the progress of the disease, patients represented persistent weakness and atrophy in proximal muscles.Conclusions Mutation (Thr704Met) in the SCN4A gene should be responsible for this family.This mutation causes severe HOKPP and progressive muscle atrophy.

Objective To observe the effects of levodopa on verbal and spatial working memory in elderly patients with Parkinson's disease (PD).Methods The modified Smith working memory software were applied to study the verbal and spatial working memory in 32 PD patients before and 8 weeks after treatment with levodopa and benserazide hydrochloride tablets.The results of PD patients were compared with those in 32 normal controls matched for age,sex and education.Results The correct rates of phonological verbal and coordinate visuospatial working memory were significantly lower in the PD patients without treatment than in the normal controls (both P＜0.01).The correct rates of semantic verbal and categorical visuospatial working memory had no significant differences between the PD patients without treatment and the normal controls (both P＞0.05).The correct rates of phonological verbal working memory and coordinate visuospatial working memory were significantly higher in the PD patients after administration of levodopa and benserazide tablets than in PD patients without treatment [(88.6±6.5)％ vs.(82.1 ± 6.6)％,(84.2±8.8)％ vs.(75.2±8.9)％,respectively,both P＜0.01],but there were no significant differences in the correct rates of semantic verbal working memory and categorical visuospatial working memory between the above two groups (both P＞0.05).The correct rates of phonological verbal,semantic verbal,coordinate visuospatial and categorical visuospatial working memory were negatively correlated with the course of disease,and had no correlations with age and the degree of education.Conclusions Levodopa can improve the functions of phonological verbal working memory and the coordinate visuospatial working memory,but has no effect on the semantic verbal working memory and the categorical visuospatial working memory.It is postulated that dopamine replacement therapy may have double dissociable effects on the different working memories.

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment..
Abnormalities, Multiple ; genetics ; Genetic Diseases, X-Linked ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Nevus ; genetics ; Syndrome