Origin of nuclear and chromosomal alterations derived from the action of an aneugenic agent-Trifluralin herbicide

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Effect of low-level laser therapy on pain levels in patients with temporomandibular disorders: a systematic review

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Molecular cytogenetics and its contribution to the understanding of the chromosomal diversification in Hoplias malabaricus (Characiformes)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Intriguing evidence of translocations in Discus fish (Symphysodon, Cichlidae) and a report of the largest meiotic chromosomal chain observed in vertebrates

As part of a program to understand the genetics of Amazonian ornamental fish, classical cytogenetics was used to analyze Symphysodon aequifasciatus, S. discus and S. haraldi, popular and expensive aquarium fishes that are endemic to the Amazon basin. Mitotic analyses in Symphysodon have shown some odd patterns compared with other Neotropical cichlids. We have confirmed that Symphysodon species are characterized by chromosomal diversity and meiotic complexity despite the fact that species share the same diploid number 2n = 60. An intriguing meiotic chromosomal chain, with up to 20 elements during diplotene/diakinesis, was observed in S. aequifasciatus and S. haraldi, whereas S. discus only contains typical bivalent chromosomes. Such chromosomal chains with a high number of elements have not been observed in any other vertebrates. We showed that the meiotic chromosomal chain was not sex related. This observation is unusual and we propose that the origin of meiotic multiples in males and females is based on a series of translocations that involved heterochromatic regions after hybridization of ancestor wild Discus species. Heredity (2009) 102, 435-441; doi: 10.1038/hdy.2009.3; published online 25 February 2009

Chromosomal evolution in Gekkonidae. I. Chromosome painting between Gekko and Hemidactylus species reveals phylogenetic relationships within the group

Geckos are a large group of lizards characterized by a rich variety of species, different modes of sex determination and diverse karyotypes. In spite of many unresolved questions on lizards' phylogeny and taxonomy, the karyotypes of most geckos have been studied by conventional cytogenetic methods only. We used flow-sorted chromosome-specific painting probes of Japanese gecko (Gekko japonicus), Mediterranean house gecko (Hemidactylus turcicus) and flat-tailed house gecko (Hemidactylus platyurus) to reveal homologous regions and to study karyotype evolution in seven gecko species (Gekko gecko, G. japonicus, G. ulikovskii, G. vittatus, Hemidactylus frenatus, H. platyurus and H. turcicus). Generally, the karyotypes of geckos were found to be conserved, but we revealed some characteristic rearrangements including both fissions and fusions in Hemidactylus. The karyotype of H. platyurus contained a heteromorphic pair in all female individuals, where one of the homologues had a terminal DAPI-negative and C-positive heterochromatic block that might indicate a putative sex chromosome. Among two male individuals studied, only one carried such a polymorphism, and the second one had none, suggesting a possible ZZ/ZW sex determination in some populations of this species. We found that all Gekko species have retained the putative ancestral karyotype, whilst the fission of the largest ancestral chromosome occurred in the ancestor of modern Hemidactylus species. Three common fissions occurred in the ancestor of Mediterranean house and flat-tailed house geckos, suggesting their sister group relationships. PCR-assisted mapping on flow-sorted chromosome libraries with conserved DMRT1 gene primers in G. japonicus indicates the localization of DMRT1 gene on chromosome 6.

Biodegradable Nanoparticles Containing Benzopsoralens: An Attractive Strategy for Modifying Vascular Function in Pathological Skin Disorders

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Chromosomal imbalances are uncommon in chagasic megaesophagus

Background: Chagas' disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM) and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC). Based on the association between CM and ESCC, we investigated whether genes frequently showing unbalanced copy numbers in ESCC were altered in CM by fluorescence in situ (FISH) technology.Methods: A total of 50 formalin-fixed, paraffin-embedded esophageal mucosa specimens (40 from Chagas megaesophagus-CM, and 10 normal esophageal mucosa-NM) were analyzed. DNA FISH probes were tested for FHIT, TP63, PIK3CA, EGFR, FGFR1, MYC, CDKN2A, YES1 and NCOA3 genes, and centromeric sequences from chromosomes 3, 7 and 9.Results: No differences between superficial and basal layers of the epithelial mucosa were found, except for loss of copy number of EGFR in the esophageal basal layer of CM group. Mean copy number of CDKN2A and CEP9 and frequency of nuclei with loss of PIK3CA were significantly different in the CM group compared with normal mucosa and marginal levels of deletions in TP63, FHIT, PIK3CA, EGFR, CDKN2A, YES and gains at PIK3CA, TP63, FGFR1, MYC, CDNK2A and NCOA3 were detected in few CM cases, mainly with dilation grades III and IV. All changes occurred at very low levels.Conclusions: Genomic imbalances common in esophageal carcinomas are not present in chagasic megaesophagus suggesting that these features will not be effective markers for risk assessment of ESCC in patients with chagasic megaesophagus.

Comorbidity of obsessive-compulsive disorder and personality disorders. A Brazilian controlled study

The aim of this study was to evaluate the presence of personality disorders (PDs) in 40 patients with obsessive-compulsive disorder (DSM-III-R criteria) from the Medical School of Botucatu (UNESP), Sao Paulo, Brazil. It is a case-control study. Patients were 24 women and 16 men, 16-68 years old, referred to our outpatient psychiatric service for treatment. Controls were 40 nonpsychiatric outpatients matched to the cases by sex, age and marital status. The instrument used was the Portuguese version of the Structured Interview for DSM-III-R Personality Disorders (SIDP-R). All interviews (n = 80) were made simultaneously by 2 raters, with independent scoring, so that the interrater reliability of the instrument could also be assessed (kappa statistics). The consensual axis II diagnoses in the OCD group were: avoidant (52.5%, κ = 0.80), dependent (40%, κ = 0.84), histrionic (20%, κ = 0.83), paranoid (20%, κ = 0.74), obsessive-compulsive (17.5%, κ = 0.86), narcissistic (7.5%, κ = 1.00), schizotypal (5%, κ = 0.65), passive-aggressive (5%, κ = 0.79) and self-defeating (5%, κ 0.55). At least one PD diagnosis was made in 70% of the patients, while only 6 controls had a PD diagnosis (p < 0.01). A great deal of diagnostic overlap was found in the OCD group (57.5% had two or more PDs), especially between avoidant and dependent PDs. The features of these two PDs may be secondary to the OCD. The study also suggests that there is not a close relationship between OCD and obsessive-compulsive personality disorder (OCPD). Patients with OCPD or even 3 or 4 O-C traits had significantly less insight into their obsessions and compulsions (p < 0.01).

Hypertensive disorders in pregnant women with diabetes mellitus

The present study was performed to assess the rate of hypertensive complications in diabetic pregnant patients and the influence of White's classification and the quality of the diabetic control. This study included 169 diabetic pregnant women who had delivered at the University Hospital of Botucatu Brazil from 1980 to 1981. The hypertensive disorders occurred in 29.8% of the cases. The incidence of the hypertensive process was the same in all classes of diabetic patients, and it was independent of the glycemic control. In patients with gestational diabetes (classes A and AB), chronic hypertension was the commnest type found; in patients with short-term diabetes (classes B and C) pregnancy-induced hypertension (PIH) and chronic hypertension with superimposed PIH was the most frequent type, and diabetic patients with vasculopathies (classes D-R) had preeclampsia and chronic hypertension with superimposed preeclampsia as the commonest type found.

Relevância da genética na etiologia do autismo

Autism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. Today, the presence of genetic factors in its etiology is well known, with familial recurrence of autism and other psychiatric conditions. Autism does not have usual Mendelian inheritence and presents genetic heterogeneity. Strong association has been found between autism and the fragile X syndrome (FMR-1 gene) and with tuberous sclerosis (Bourneville's syndrome). However, many different chromosomal abnormalities were recently described in autistic patients, mainly of chromosome 7 and 15. There are some genes on 15q11-q13 whose products have expression in the central nervous system, mainly synapses, which are subunits of neurotransmitters or ion channels (UBE3A, GABRA5, GABRB3, GABRG3, CHRNA7 e ITO). Some regions of chromosome 7 also have important developmental genes, as EN-2 and HOXA, which act on central nervous system formation. There seems then to exist genes associated with autism etiology on chromosomes 7,15 and X. The detailed study of these chromosomes can produce knowledgment about the biological mechanisms involved in this disturbance.

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.

Psychiatric disorders and psychiatric consultation in a general hospital: A case- control study

Introduction: Psychiatric consultation (PC) has been considered an efficient tool to develop research, to track and to give assistance benefiting patients, health professionals and the institution. However, it has not been much used in Brazil. Although 30 to 50% of general hospital (GH) inpatients may present a psychiatric disorder, only 1 to 12% of them are referred to assessment. The aims of this study were: to assess mental disorders in a GH; to identify which of these patients are sent to psychiatric care; to verify alleged reasons for referral to psychiatric consultation, and to examine the relationship between PC and psychiatric learning (during medical school and residence). Methods: A case-control patient study was conducted (47 cases and 94 controls) to analyze in detail the following variables: socio-demographic; clinical; degree of information (about the disease and diagnostic/therapeutic procedures), and relationship between patient and health team. Psychiatric diagnoses were made according to the ICD- 10 criteria. The Self Report Questionnaire (SRQ), the CAGE and Brief Psychiatric Rating Scale (BPRS) were used as well as a specifically designed questionnaire to collect clinical and demographic data. Results: Behavioral alterations, either of elation or of depression, were the main for requesting a PC; 95.8% of the cases and 27.7% of the controls had a mental disorder. Organic mental disorders and alcohol-related disorders were the most frequent diagnoses in group I (cases), while anxiety, depressive and alcohol-related disorders were predominant in group II (controls). Control group patients were better informed and more able to establish an appropriate relationship with the health team than case patients. The logistic regression showed CAGE-positive patients having 12.85 times greater risk of being referred to PC, followed by unemployed patients (2.44 times more PC referrals). Discussion: The SRQ and CAGE were quite useful in the screening of possible patients and might be important for medical students to learn and use as generalists. Further research is needed to verify if and how the newly-established service will improve the diagnostic and treatment skills of our students.

Short interspersed repetitive elements (SINEs) from the cichlid fish, Oreochromis niloticus, and their chromosomal localization by fluorescent in situ hybridization

In the present study, we describe the cloning and characterization of a new SINE-like element from O. niloticus (ROn-2) and show the distribution of this SINE and a previously isolated SINE, ROn-1, in the chromosomes of O. niloticus. The ROn-2 element is 359 base pairs (bp) in length, contains short direct terminal repeats, a tRNA-related region similar to tRNA Val and tRNA Arg, a tRNA-unrelated region, and a poly-A tail. Analysis of the chromosomal distribution of ROn-1 and ROn-2 by fluorescent in situ hybridization showed that both SINE sequences are present in all chromosomes of tilapia, and organized in small clusters. The only exception was a large cluster of ROn-1 repeats found in the middle of the long arm of chromosome 1. In view of our data we discuss the hypothesis that the absence of large clusters of SINE sequences and the structural composition of these sequences may explain the absence of base-specific fluorochrome bands in the chromosomes of tilapia.