Objective:To investigate the relation between temporal expression changes of proline-rich transmembrane protein 2 ( PRRT2) gene and clinical progression of PRRT2-related paroxysmal disorders (PRPDs). Methods:A retrospective analysis was performed; 19 patients with PRPDs admitted to Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2021 to July 2024 were enrolled; their clinical data, including onset age and disease progression, were collected. Using Bgee database, the PRRT2 gene expressions in different age groups were analyzed to explore their relations with clinical progression. Results:Among the 19 patients, 8 were diagnosed as having infantile convulsion with choreoathetosis (ICCA), 1 patient as having infantile convulsion, and 10 as having paroxysmal kinesigenic dyskinesia (PKD). Among patients with ICCA, the disease course was divided into two stages: in infantile period, it manifested as infantile convulsions at the onset, with an onset age of (5.75±1.03) months, ranged 4-7 months; in early childhood, no seizures were noted, enjoying a silent period and lasting for a period ranged 7-15 years; subsequently, the disease relapsed during adolescent, presenting as dyskinesia, with an onset age of (11.75±3.11) years, ranged 8-16 years. Among patients with PKD, onset age was (10.40±3.17) years, ranged 5-17 years. PRRT2 expression peaked before 1 year old, declined to the lowest level at 10 years old, and then gradually increased, reaching a second peak at 17 years old; PRRT2 expression demonstrated bimodal peaks during early childhood and adolescence. Conclusion:PRPDs progression shows a certain consistency with the temporal change of PRRT2 gene expression.

Objective:To investigate the relation between temporal expression changes of proline-rich transmembrane protein 2 ( PRRT2) gene and clinical progression of PRRT2-related paroxysmal disorders (PRPDs). Methods:A retrospective analysis was performed; 19 patients with PRPDs admitted to Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2021 to July 2024 were enrolled; their clinical data, including onset age and disease progression, were collected. Using Bgee database, the PRRT2 gene expressions in different age groups were analyzed to explore their relations with clinical progression. Results:Among the 19 patients, 8 were diagnosed as having infantile convulsion with choreoathetosis (ICCA), 1 patient as having infantile convulsion, and 10 as having paroxysmal kinesigenic dyskinesia (PKD). Among patients with ICCA, the disease course was divided into two stages: in infantile period, it manifested as infantile convulsions at the onset, with an onset age of (5.75±1.03) months, ranged 4-7 months; in early childhood, no seizures were noted, enjoying a silent period and lasting for a period ranged 7-15 years; subsequently, the disease relapsed during adolescent, presenting as dyskinesia, with an onset age of (11.75±3.11) years, ranged 8-16 years. Among patients with PKD, onset age was (10.40±3.17) years, ranged 5-17 years. PRRT2 expression peaked before 1 year old, declined to the lowest level at 10 years old, and then gradually increased, reaching a second peak at 17 years old; PRRT2 expression demonstrated bimodal peaks during early childhood and adolescence. Conclusion:PRPDs progression shows a certain consistency with the temporal change of PRRT2 gene expression.

Objective Both flee triiodothyronine (FT3) level and Glasgow Coma scale (GCS) scores have been separately described as prognostic predictors for mortality in hypertensive intracerebral hemorrhage (HICH).This study is conducted to investigate the relationship and prognostic impact of low-T3 syndrome and GCS in HICH patients.Methods Two hundred and thirty patients with HICH,admitted to our hospital from January 2015 to January 2016,were chosen and performed thyroid hormone levels examination (FT3,FT4 and thyroid stimulating hormone [TSH] 3).According to the thyroid hormone results,these patients were divided into low T3 group I (FT3＜3.1 pmol/L,normal TSH level) and normal thyroid function group (normal FT3,FT4 and TSH levels).According to best cut-off levels defined by receiver operating characteristic (ROC) curve,these patients were divided into low GCS scores group (GCS＜7.5) and high GCS scores group (GCS＞7.5),and low T3 group Ⅱ (FT3＜2.85 pmol/L) and high T3 group (FT3＞2.85 pmol/L).Telephone follow-up was performed every 6 months,and using death or re-bleeding during follow-up period as end point of the event,prognostic values of FT3 level and GCS scores defined by ROC curve in mortality and re-bleeding rote were recorded;survival rate of these patients were analyzed by Kaplan-Meier curves and compared between each two groups;multivariate Cox regression was used to analyze the relations of FT3 level and GCS scores with mortality and re-bleeding rate.Results As compared with normal thyroid function group,low T3 group Ⅰ had significantly higher re-bleeding rate,percentage of patients with blood loss＞30 mL,and rate of breaking into the ventricles,and statistically lower GCS scores at admission and FT3 level (P＜0.05);the mean age in patients of low T3 group Ⅰ was significantly elder than that in patients of normal thyroid function group (P＜0.05).ROC results indicated that the sensitivity and specificity of GCS scores in predicting mortality and re-bleeding rate were 63％ and 73％,and those of FT3 level were 45％ and 73％.Kaplan-Meier curves showed that both low GCS group and low T3 group Ⅱ had significantly increased mortality and re-bleeding rate as compared with high GCS group and high T3 group (P＜0.05).Unified prediction results indicated that patients from low T3 and low GCS group had significantly higher mortality and re-bleeding rate as compared with patients from low T3 and high GCS group,high T3 and low GCS group,and high T3 and high GCS group (P＜0.05).Conclusion Low T3 syndrome is common in patients with HICH;FT3 level and GCS scores appear to be important predictors for mortality and recurrence in patients with HICH.