BACKGROUND: The real mechanism of systemic sclerosis is still not clear, it is found clinically that there are psychological stress factors of different forms before the attack.OBJECTIVE: To deeply investigate the psychosocial factors in patients with systemic sclerosis, and primarily analyze the role of psychological stress factors by comparing with national norms and controls as well as combining with clinical immunological test.DESIGN: A controlled observation.SETTING: The experiments were carried out in the Department of Geriatrics, the First Hospital Affiliated to Medical College, Zhejiang University and the Department of Surgery, Hangzhou Tongji Hospital.PARTICIPANTS: Between December 2002 and September 2005. 26 patients with systemic sclerosis (systemic sclerosis group), who received thoracic duct lymph drainage therapy, and 30 inpatients with chronic gastritis(control group) were selected from the same disease area of the Department of Internal Medicine, the First Hospital of Medical College, Zhejiang University.METHODS: All the patients filled the general information inventory, the contents included were age, gender, main symptoms, disease course, special examination, diagnosis and drug therapy. The psychosocial scale was used to evaluate the psychosocial factors. Life event scale (LES) was used to assess the life events stress, including profession, learning, marriage and love, family and child, economics, justice, interpersonal relationship and other common life events. The simplified coping style questionnaire (SCSQ)was applied to assess the coping styles, including 8 main components: confrontation, indifference, self-control, seeking help, self-blame, escape, planning and reassessment, and then the habitual coping styles were divided into negative ones and positive ones. The Eysenck personality questionnaire (EPQ) was used to evaluate the personality characters, it consisted of4 subscales: extraversion-introversion scale, neuroticism scale, psychoticism scale, lie and cover up scale. The fasting blood samples (3 mL) were drawn from the patients to detect serum levels of immunoglobulin G (IgG), immunoglobulin A (IgA) immunoglobulin M (IgM) and complement C3 with immunoturbidimetry, and the correlations between IgG and other factors were analyzed.MAIN OUTCOME MEASURES: The evaluative results of psychosocial scale and results of clinical immunological detection were mainly observed.RESULTS: All the 56 patients finished the scale survey and immunological detection, and all were involved in the analysis of results. The total number of life events, number of negative events and LEU value of negative events in LES were all significantly greater in the systemic sclerosis group than in the control group. For the coping style, the dimension of positive coping was less but that of negative coping was more in the systemic sclerosis group than in the control group. For EPQ, the scores of extraversion-introversion were lower but the scores of neuroticism in both males and females in the systemic sclerosis group were higher than in the control group and norms. For the immunological detection, the levels of lgG, lgA and lgM were all higher in the systemic sclerosis group than in the control group, but C3 level had insignificant difference between the two groups.IgG had negative correlations with the number of negative events, dimension of negative coping and the score of extraversion-introversion in EPQ.CONCLUSION: Patients with systemic sclerosis have obvious psychological stress, negative coping style, unstable mood and abnormal humoral immune function. Psychosocial stress has influence on immunology, it is indicated that psychological stress is closely correlated with the attack of systemic sclerosis.

OBJECTIVE: To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure. METHODS: The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants. RESULTS: In three female patients, head MRI showed nodular gray matter ectopic in the bilateral ventricle. WES identified the heterozygous c.2720del T(p.Leu907Argfs*39) variant of FLNA gene in case 1 and her mother (case 2), and heterozygous c.1387_1390del GTGC(p.Val463Profs*34) of FLNA gene in case 3. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC (p.Val463Profs*34) variants of FLNA gene were predicted to be pathogenic (PVS1+PM2+PP1) and likely pathogenic(PVS1+PM2), respectively. CONCLUSION The c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC(p.Val463Profs*34) variants of FLNA gene may be the genetic cause of the three patients.
Epilepsy/genetics* ; Female ; Filamins/genetics* ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Mutation ; Periventricular Nodular Heterotopia/genetics* ; Seizures

Mammalian/mechanistic targets of rapamycin (mTOR) consist in two functional complexes, mTORC1 and mTORC2, which modulate the essential physical process in organism through responding to growth factor, glutamine, neurotransmitter and so on. Overaction of mTOR pathway in the central nervous system is responsible for epilepsy. The article reviews the existing reports to analyze and conclude the phenotypes of the mTOR related epilepsies as well as the likely mechanism, and to provide reference for the diagnosis and treatment of mTOR related epilepsy.