RESUMO
OBJECTIVE: To investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population. METHODS: A genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR; American Psychiatric Association, 2000). All subjects signed informed consent. RESULTS: In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α = 0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P= 0.0367) at D1S484. The single point NPL score was 1.95(P= 0.0145) and the multi-point NPL score was 2.39 (P= 0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P= 0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive inheritance mode the maximum single-point HLOD score was 1.26 (α = 0.40) and the multi-point HLOD was 1.12 (α = 0.38) at D6S289 in the chromosome 6p23. In nonparametric analysis, the single-point NPL score was 1.52 (P= 0.0402) and the multi-point NPL score was 1.92 (P= 0.0206) at D6S289. CONCLUSION: Susceptibility genes correlated with undifferentiated schizophrenia pedigrees from D1S484, D1S2878, D1S196 loci, and those correlated with paranoid schizophrenia pedigrees from D6S289 locus are likely present in chromosome regions 1q23.3 and 1q24.2, and chromosome region 6p23, respectively.
Assuntos
Cromossomos Humanos , Ligação Genética , Loci Gênicos , Predisposição Genética para Doença , Esquizofrenia/genética , Adulto , Humanos , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: The treatment of hypertensive spontaneous intracranial hemorrhage (ICH) is still controversial. The purpose of the present study was to investigate whether minimally invasive puncture and drainage (MIPD) could improve patient outcome compared with decompressive craniectomy (DC). METHODS: Consecutive patients with ICH (â§30 mL in basal ganglia within 24 hours of ictus) were non-randomly assigned to receive MIPD (group A) or DC (group B) hematoma evacuation. The primary outcome was death at 30 days after onset. Functional independence was assessed at 1 year using the Glasgow Outcome Scale. RESULTS: A total of 198 patients met the per protocol analysis (84 in group A and 114 in group B). The initial Glasgow Coma Scale (GCS) score was 8.1 ± 3.4 and the National Institutes of Health Stroke Scale (NIHSS) score was 20.8 ± 5.3. The mean hematoma volume (HV) was 56.7 ± 23.0 mL, and there was extended intraventricular hemorrhage (IVH) in 134 patients. There were no significant intergroup differences in the above baseline data, except group A had a higher mean age than that of group B (59.4 ± 14.5 vs. 55.3 ± 11.1 years, P = 0.025). The cumulative mortalities at 30 days and 1 year were 32.3% and 43.4%, respectively, and there were no significant differences between groups A and B. However, the mortality for patients â¦60 years, NIHSS < 15 or HVâ¦60 mL was significantly lower in group A than that in group B (all P < 0.05). The cumulative functional independence at 1 year was 26.8%, and the difference between group A (33/84, 39.3%) and group B (20/114, 17.5%) was significant (P = 0.001). Multivariate logistic regression analysis showed that a favorable outcome after 1 year was associated with the difference in therapies, age, GCS, HV, IVH and pulmonary infection (all P <0.05). CONCLUSIONS: For patients with hypertensive spontaneous ICH (HVâ§30 mL in basal ganglia), MIPD may be a more effective treatment than DC, as assessed by a higher rate of functional independence at 1 year after onset as well as reduced mortality in patients â¦60 years of age, NIHSS < 15 or HVâ¦60 mL.
RESUMO
OBJECTIVE: There is limited information available regarding the treatment of huge hypertensive putaminal hemorrhage (HPH). This study aimed to evaluate our experience of 33 patients with huge HPH who were treated by open surgery (decompressive craniectomy and hematoma evacuation) and external cerebrospinal fluid (CSF) drainage. METHODS: We reviewed the records of 33 consecutive patients admitted to our hospital with huge HPH (≥ 60 cm(3)). All patients were treated by decompressive craniectomy, hematoma evacuation, and CSF drainage. Data collected included age, gender, blood pressure at admission, Glasgow Coma Scale (GCS) score, intracranial hemorrhage (ICH) location, ICH volume, degree of midline shift, presence/absence of basal cistern obliteration at admission and before surgery, and presence/absence of intraventricular hemorrhage (IVH). Outcome was assessed by the Glasgow Outcome Scale score at 30 days after surgery. RESULTS: The median GCS score was 5.0 at admission, and improved to 8.0 at 1 week after surgery. The median ICH volume was 95 cm(3) before surgery and 4 cm(3) after surgery. IVH was observed in 93.9% of patients. The overall survival rate to discharge was 75.6% (25/33), including 15.1% (4/33) with good function, 36.4% (12/33) with disability, and 24.3% (8/33) in a vegetative state. The mortality rate was 24.3% (8/33). Patients with right-sided ICH had better outcomes than those with left-sided ICH. No patients with GCS score ≤ 6 and ICH volume ≥ 90cm(3) at admission achieved good postoperative function. Operative time was significantly shorter with hematoma evacuation via the transcortical approach than via the transsylvian approach (3.41 ± 0.75 h vs. 4.14 ± 0.59 h, P<0.001). There were no significant differences in the rates of mortality or survival with good function between the two groups. CONCLUSIONS: Treatment of huge HPH by decompressive craniectomy, hematoma evacuation, and CSF drainage is life-saving. Patients with GCS score 7-8, ICH volume 60-90 cm(3), and right-sided ICH may achieve good recovery. The transcortical approach appears to be more effective than the transsylvian approach for rapid decompression of the edematous brain.