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1.
Transl Psychiatry ; 6(10): e908, 2016 10 04.
Article in English | MEDLINE | ID: mdl-27701407

ABSTRACT

Psychotic disorders affect ~3% of the general population and are among the most severe forms of mental diseases. In early stages of psychosis, clinical aspects may be difficult to distinguish from one another. Undifferentiated psychopathology at the first-episode of psychosis (FEP) highlights the need for biomarkers that can improve and refine differential diagnosis. We investigated gene expression differences between patients with FEP-schizophrenia spectrum (SCZ; N=53) or FEP-Mania (BD; N=16) and healthy controls (N=73). We also verified whether gene expression was correlated to severity of psychotic, manic, depressive symptoms and/or functional impairment. All participants were antipsychotic-naive. After the psychiatric interview, blood samples were collected and the expression of 12 psychotic-disorder-related genes was evaluated by quantitative PCR. AKT1 and DICER1 expression levels were higher in BD patients compared with that in SCZ patients and healthy controls, suggesting that expression of these genes is associated more specifically to manic features. Furthermore, MBP and NDEL1 expression levels were higher in SCZ and BD patients than in healthy controls, indicating that these genes are psychosis related (independent of diagnosis). No correlation was found between gene expression and severity of symptoms or functional impairment. Our findings suggest that genes related to neurodevelopment are altered in psychotic disorders, and some might support the differential diagnosis between schizophrenia and bipolar disorder, with a potential impact on the treatment of these disorders.


Subject(s)
Bipolar Disorder/genetics , Gene Expression Regulation/genetics , Psychotic Disorders/genetics , Schizophrenia/genetics , Schizophrenic Psychology , Adult , Carrier Proteins/genetics , Case-Control Studies , DEAD-box RNA Helicases/genetics , Diagnosis, Differential , Female , Humans , Male , Myelin Basic Protein/genetics , Proto-Oncogene Proteins c-akt/genetics , Psychiatric Status Rating Scales/statistics & numerical data , Psychometrics , Psychotic Disorders/diagnosis , Psychotic Disorders/psychology , Reference Values , Ribonuclease III/genetics , Schizophrenia/diagnosis , Statistics as Topic , Young Adult
2.
Arch Soc Esp Oftalmol ; 89(8): 320-3, 2014 Aug.
Article in English, Spanish | MEDLINE | ID: mdl-24269421

ABSTRACT

CASE REPORT: A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A "bicycle wheel" macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. DISCUSSION: Genetic counseling was given and the pattern of X-linked inheritance was explained. A significant improvement of the macular thickness was observed after treatment with topical dorzolamide and oral acetazolamide.


Subject(s)
Acetazolamide/administration & dosage , Carbonic Anhydrase Inhibitors/therapeutic use , Retinoschisis/drug therapy , Sulfonamides/administration & dosage , Thiophenes/administration & dosage , Administration, Topical , Adolescent , Humans , Male
3.
Rev. Assoc. Med. Bras. (1992) ; 41(5): 333-6, set.-out. 1995. tab, graf
Article in Portuguese | LILACS | ID: lil-161702

ABSTRACT

Estudando-se casos de infecçoes genitais associadas a papilomavírus em um hospital universitário, verificou-se que as patologias mais frequentes eram o condiloma acuminado e câncer epidermóide. Objetivo. Analisar a prevalência das lesoes genitais associadas a papilomavírus e distribuiçao por sexo, idade e cor. Métodos. Foram estudadas 223 pacientes atendidas no Hospital Universitário Antonio Pedro, estado do Rio de Janeiro, durante os anos de 1988 a 1992. Após diagnóstico clínico, biópsias das pacientes foram submetidas a análise histológica. Resultados. Os resultados mostraram que, entre as doenças do trato genital associadas a papilomavírus, o condiloma acuminado e o carcinoma epidermóide eram as mais frequentes. Os casos de carcinoma epidermóide mantiveram prevalência estável ao longo do período, enquanto que o número de casos condiloma acuminado aumentou de três para 33 por ano. As duas patologias foram mais frequentes em indivíduos de cor branca. Nao houve diferença significativa entre sexo e presença de condiloma. A média de idade para carcinoma epidermóide nao sofreu variaçao significativa no período estudado, enquanto decaiu para o condiloma acuminado nos períodos de 1988 para 1989 e de 1991 para 1992. Conclusao. As lesoes genitais associadas a papilomavírus aumentaram significativamente no período de cinco anos. Maior atençao deve ser dada as campanhas de controle de diagnóstico precoce.


Subject(s)
Humans , Male , Female , Child , Adult , Middle Aged , Genital Diseases, Female/epidemiology , Genital Diseases, Male/epidemiology , Papillomavirus Infections/epidemiology , Carcinoma, Squamous Cell/etiology , Condylomata Acuminata/etiology , Genital Diseases, Female/pathology , Genital Diseases, Female/virology , Genital Diseases, Male/pathology , Papillomaviridae/pathogenicity , Papillomavirus Infections/complications , Papillomavirus Infections/pathology
4.
Rev Assoc Med Bras (1992) ; 41(5): 333-6, 1995.
Article in Portuguese | MEDLINE | ID: mdl-8731597

ABSTRACT

UNLABELLED: In order to investigate genital papillomavirus infection in a university hospital, we verified that condyloma acuminata and epidermoid carcinoma were the most common diseases associated to this virus. PURPOSE: This study was undertaken to verify the prevalence of genital lesions associated to papillomavirus and sex, age and race distribution. METHODS: We have reported 223 patients who were treated at Hospital Universitario Antonio Pedro, Rio de Janeiro State, during the period 1988-1992. After clinical diagnosis, biopsies were submitted to histological analysis. RESULTS: Results showed that condyloma acuminata and epidermoid carcinoma were the most frequent lesions among genital lesions. Carcinoma cases had a stable prevalence along the period while condyloma cases had a significant increase. Both lesions were more frequently found in Caucasian (white) patients. There were no differences between sexes and condyloma evidence. The media age in the epidermoid carcinoma cases did not change in the years, but it has decreased regarding condyloma acuminata. CONCLUSION: Genital diseases associated to papillomavirus increased during five years. Attention must be paid to control and early diagnosis to prevent neoplasic evolution.


Subject(s)
Genital Diseases, Female/epidemiology , Genital Diseases, Male/epidemiology , Papillomaviridae , Papillomavirus Infections/epidemiology , Tumor Virus Infections/epidemiology , Adolescent , Adult , Aged , Child , Female , Genital Diseases, Female/virology , Genital Diseases, Male/virology , Humans , Male , Middle Aged , Prevalence , Retrospective Studies
5.
Mutat Res ; 328(1): 113-8, 1995 Apr.
Article in English | MEDLINE | ID: mdl-7898500

ABSTRACT

The genotoxic potential of paraquat was evaluated in mouse somatic (bone marrow) and germ (spermatozoa) cells. Two exposure schedules were conducted: single and multiple treatment. Only for multiple treatment was an increased frequency of chromosomal aberrations observed. In germ cells, paraquat induced an increase of sperm-shape abnormalities when the animals were treated at three stages of cell development: spermatozoa, spermatid and preleptotene spermatogonial cells. These toxicogenetic effects might be attributed to the ability of paraquat to generate oxygen free radicals.


Subject(s)
Chromosome Aberrations , Mutagens/toxicity , Paraquat/toxicity , Spermatozoa/drug effects , Animals , Bone Marrow/drug effects , Bone Marrow Cells , Chi-Square Distribution , Dose-Response Relationship, Drug , Female , Male , Mice , Mice, Inbred BALB C , Mutagenicity Tests
6.
Rev. bras. genét ; 17(4): 409-12, dez. 1994. tab
Article in English | LILACS | ID: lil-164711

ABSTRACT

Red Palm Oil (RPO), extracted from fruits of Elaeis guineensis, is a complex mixture consisting of over 99 per cent glycerides and about 1 per cent non-glyceride compounds. Its orange-red colour is due to its high content of carotenoid pigments, mainly alpha- and beta-carotene. Based on the fact that palm oil is a rich source of provitamin A, and because it is largely consumed in North and Northeastern Brazil, we evaluated possible clastogenic and cytotoxic activities of this oil on mouse bone marrow cells in vivo, as well as the alpha- and beta-carotene content. The experiments were performed using samples of refined and crude palm oil, of which two different phases, supernatant, sediment, and the mixture of both, were tested. The animals were treated by gavage, at daily doses of 4.5 g/Kg, for five consecutive days, and killed 24 hours after the last treatment, for chromosome preparations. The negative control group was treated with corn oil. There was no statistically significant difference in the frequency of chromosomal aberrations and in mitotic index when the animals which received palm oil were compared with the negative control. The beta-carotene content was higher than that of alpha-carotene, and the supematant phase was the richest source of carotenoids. These findings suggest that RPO has no genotoxic effect.


Subject(s)
Animals , Mice , Carotenoids/analysis , Bone Marrow/cytology , Mutagens/toxicity , Plant Oils/toxicity , Palm Oil , Chromosome Aberrations , Mitotic Index , Mutagenicity Tests
7.
Mutat Res ; 313(1): 81-7, 1994 Aug.
Article in English | MEDLINE | ID: mdl-8047079

ABSTRACT

Ethylene oxide (EtO) is an important intermediate industrial chemical which is also used for sterilizing medical products and hospital equipment. In the present study we have evaluated some biological markers, such as chromosomal aberrations, micronuclei and EtO-hemoglobin adducts in the peripheral blood cells, and micronuclei in buccal exfoliated cells of 22 controls and 75 workers employed in an industry in Brazil using EtO as an intermediate. Measurements of EtO in the general area showed that workers were exposed to 2-5 ppm time-weighted average (TWA) for an 8-h working day, during the 3-month sampling. Our results indicate that exposure to EtO resulted in a statistically significant enhancement of chromosomal aberrations (P = 0.01) and of micronuclei in binucleated lymphocytes (P < 0.001). For the frequencies of micronucleated cells in buccal mucosa there was no statistically significant difference between exposed and control groups. The mean values of hemoglobin adduct (HOEtVal) measurements obtained from a selected group of exposed and unexposed donors were statistically different.


Subject(s)
Environmental Monitoring/methods , Ethylene Oxide/adverse effects , Occupational Exposure/adverse effects , Adult , Chromosome Aberrations , Ethylene Oxide/analysis , Ethylene Oxide/metabolism , Hemoglobins/metabolism , Humans , Male , Micronuclei, Chromosome-Defective , Occupational Exposure/analysis
8.
Mutat Res ; 300(3-4): 253-8, 1993 Aug.
Article in English | MEDLINE | ID: mdl-7687026

ABSTRACT

This work has evaluated the clastogenicity of six extracts (tea and aqueous extract of leaves, tea, aqueous and methanolic extracts of dried fruit, and tea of unripe fruit) obtained from Crotalaria retusa L. and three extracts (tea and methanolic extract of dried fruit, and tea of unripe fruit) obtained from Crotalaria mucronata Desv. The extracts were injected intraperitoneally into mice, and the animals were killed 24 h after treatment for preparation of bone marrow cells. The extracts obtained from fruits of Crotalaria retusa were found to cause a dose-dependent increase in the frequency of chromosomal aberrations in mice. On the other hand, no statistically significant increase in the frequency of aberrant cells was observed for the animals treated with leaf extracts obtained from Crotalaria retusa and with extracts from fruits of Crotalaria mucronata. The possibility that the pyrrolizidine alkaloid, monocrotaline, present in Crotalaria retusa exerts a clastogenic effect on mouse bone marrow cells is discussed. Our conclusion is based on studies using intraperitoneal treatments. Effects of oral exposure to extracts of Crotalaria retusa are unknown.


Subject(s)
Chromosome Aberrations , Fabaceae , Monocrotaline/toxicity , Mutagens/toxicity , Plant Extracts/toxicity , Plants, Medicinal , Animals , Bone Marrow/drug effects , Brazil , Chi-Square Distribution , Injections, Intraperitoneal , Male , Mice , Mice, Inbred BALB C , Monocrotaline/administration & dosage , Plant Extracts/administration & dosage , Pyrrolizidine Alkaloids/administration & dosage , Pyrrolizidine Alkaloids/toxicity
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