1.A Disrupted-in-Schizophrenia 1 Gene Variant is Associated with Clinical Symptomatology in Patients with First-Episode Psychosis.
Javier VAZQUEZ-BOURGON ; Ignacio MATA ; Roberto ROIZ-SANTIANEZ ; Rosa AYESA-ARRIOLA ; Paula SUAREZ PINILLA ; Diana TORDESILLAS-GUTIERREZ ; Jose Luis VAZQUEZ-BARQUERO ; Benedicto CRESPO-FACORRO
Psychiatry Investigation 2014;11(2):186-191
OBJECTIVE: DISC1 gene is one of the main candidate genes for schizophrenia since it has been associated to the illness in several populations. Moreover, variations in several DISC1 polymorphisms, and in particular Ser704Cys SNP, have been associated in schizophrenic patients to structural and functional modifications in two brain areas (pre-frontal cortex and hippocampus) that play a central role in the genesis of psychotic symptoms. This study tested the association between Ser704Cys DISC1 polymorphism and the clinical onset of psychosis. METHODS: Two hundred and thirteen Caucasian drug-naive patients experiencing a first episode of non-affective psychosis were genotyped for rs821616 (Ser704Cys) SNP of the DISC1 gene. The clinical severity of the illness was assessed using SAPS and SANS scales. Other clinical and socio-demographic variables were recorded to rule out possible confounding effects. RESULTS: Patients homozygous for the Ser allele of the Ser704Cys DISC1 SNP had significantly (p<0.05) higher rates at the positive symptoms dimension (SAPS-SANS scales) and hallucinations item, compared to Cys carriers. CONCLUSION: DISC1 gene variations may modulate the clinical severity of the psychosis at the onset of the disorder.
Alleles
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Brain
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Genetics
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Hallucinations
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Humans
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Psychotic Disorders*
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Schizophrenia
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Weights and Measures
2.Relationship between genetic polymorphism of dopamine receptor and schizophrenia and its forensic significance.
Journal of Forensic Medicine 2014;30(3):202-206
Schizophrenia is a common but complex mental disorder affected by multiple factors. Forensic psychiatric assessment of schizophrenia involves evaluations on many aspects, but there is no effective biological identification index for schizophrenia. Researches indicate that dysfunction of dopaminergic neurotransmission plays an important role in the pathogenesis of schizophrenia. Our study reviews the classification, genetic structure of dopamine receptors and the recent pertinent studies between the dopamine receptors and schizophrenia and its forensic significance.
Forensic Medicine
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Humans
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Mental Disorders
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Polymorphism, Genetic
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Psychotic Disorders
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Receptors, Dopamine/genetics*
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Schizophrenia/genetics*
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Schizophrenic Psychology
3.Application Prospect of Integrative Omics in Forensic Identification of Methamphetamine-Associated Psychosis.
Long-Rui ZHAO ; Jian-Bo ZHANG ; Wei HAN ; Li ZHU ; Teng CHEN ; Fang-Lin GUAN
Journal of Forensic Medicine 2022;38(5):650-656
The clinical symptoms and signs of methamphetamine-associated psychosis (MAP) and schizophrenia are highly similar, but the situation is completely different when MAP and schizophrenia patients need to be assessed for criminal responsibility after they comitted a harmful behavior. Therefore, the distinction between the two psychoses is very important in forensic psychiatry. At present, the identification of these two psychoses is mainly dependent on the corresponding criteria such as the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Chinese Classification of Mental Disorders Version 3 (CCMD-3). It's challenging to diagnose and distinguish between the two in practical cases due to their similar clinical symptoms and the lack of effective objective indexes. Different from the limitations of single omics, integrative omics intergrates data from multiple dimensions and has been extensively studied in the field of schizophrenia and has achieved some preliminary results. In view of the correlation between MAP and schizophrenia and the potential application value of integrative omics, this paper proposes an integrative omics strategy for MAP pathogenesis and forensic identification, aiming to improve the further understanding of the relationship between the two psychoses and the corresponding pathogenesis. It also provides references for the future exploration of integrative omics in forensic precise identification and effective monitoring and early warning methods.
Humans
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Methamphetamine/adverse effects*
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Psychoses, Substance-Induced/etiology*
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Psychotic Disorders/genetics*
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Schizophrenia/genetics*
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Diagnosis, Differential
4.A case-control study on family history of Alzheimer's disease.
Jiahong YAO ; Hui LI ; Zhenxin ZHANG
Chinese Journal of Epidemiology 2002;23(1):54-56
OBJECTIVETo explore the relationship between Alzheimer's disease and its family history of the patients.
METHODSStratified analyses and logistic regression analysis were used to examine the association between Alzheimer's disease and its family history exposure in 127 cases and 254 matched controls from a population-based case-control study.
RESULTSThe risk of Alzheimer's disease was significantly higher in those who had at least one first-degree relative with dementia or major psychosis as compared to those who had no dementia or major relatives with psychosis (OR = 6.25; 8.33). Adjusted for age and level of education, family history of dementia was still associated with Alzheimer's disease positively (OR = 2.07).
CONCLUSIONThis study provides evidence that familial aggregation of Alzheimer's disease might exist among people living Beijing.
Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease ; genetics ; Case-Control Studies ; China ; Dementia ; genetics ; Family Health ; Female ; Humans ; Male ; Middle Aged ; Psychotic Disorders ; genetics
5.Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
Su Yun LEE ; Hyung Jin LEE ; Seong Hwan KIM ; Young Jin JEONG ; Hee Kyung JIN ; Jae Sung BAE ; Sang Myung CHEON ; Jae Woo KIM
Journal of Korean Medical Science 2016;31(7):1168-1172
Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.
Abdomen/diagnostic imaging
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Asian Continental Ancestry Group/genetics
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Carrier Proteins/genetics
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DNA Mutational Analysis
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Exons
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Female
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Gait Disorders, Neurologic/etiology
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Humans
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Male
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Membrane Glycoproteins/genetics
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Niemann-Pick Disease, Type C/*diagnosis/genetics
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Psychotic Disorders/etiology
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Republic of Korea
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Siblings
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Tomography, X-Ray Computed
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Young Adult