Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

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.

Attentional disorders in patients with complex partial epilepsy

A study of concentrated attention patterns in epileptic patients was conducted with the objectives: characterization of the patients' epileptic condition; assessment of the concentrated attention levels in epileptic and nonepileptic individuals; comparison of the attention levels of the two groups. An evaluation was performed of 50 adult outpatients with complex partial seizures and 20 non-epileptic individuals (comparative group) at the Neuroepilepsy Ambulatory Unit, State University of Campinas SP, Brazil. Method: characterization of seizure types, frequency and duration; concentrated attention assessment (Concentrated Attention Test - Toulouse-Piéron); comparison of the epileptic with non-epileptic individuals. Results: A statistically significant difference was observed between the groups with regard to Correct Response, Wrong Response and No Response. A difference was observed in relation to Time, but it was statistically insignificant. The epileptic patients presented inferior cognitive performance in relation to concentrated attention when compared with the non-epileptic individuals, findings compatible with the clinical complaints.

Laryngeal electromyography in movement disorders: Preliminary data

This study describes preliminary laryngeal electromyography (LEMG) data and botulinum toxin treatment in patients with dysphonia due to movement disorders. Twenty-five patients who had been clinically selected for botulinum toxin administration were examined, 19 with suspected laryngeal dystonia or spasmodic dysphonia (SD), 5 with vocal tremor, and 1 with Gilles de la Tourette syndrome (GTS). LEMG evaluations were performed before botulinum toxin administration using monopolar electrodes. Electromyography was consistent with dystonia in 14 patients and normal in 5, and differences in frequency suggesting essential tremor in 3 and Parkinson tremors in 2. The different LEMG patterns and significant improvement in our patients from botulinum toxin therapy has led us to perform laryngeal electromyography as a routine in UNICAMP movement disorders ambulatory.

Intelligence functions disorders in patients with complex partial epilepsy

Objective: To compare the performance of patients with complex partial epilepsy with the normal controls in the subtests of an instrument used to assess intelligence function. Method: Fifty epileptic patients, whose ages ranged from 19 to 49 years and 20 normal controls without any neuropsychiatric disorders. The Wechsler-Bellevue adult intelligence test was applied in groups, epileptic patients and control subjects. This test is composed of several subtests that assess specific cognitive functions. A statistical analysis was performed using non-parametric tests. Results: All the Wechsler-Bellevue subtests revealed that the intelligence functions of the patients were significantly inferior to that of the controls (p<0.05). This performance was supported by the patient's complaints in relation to their cognitive performance. Conclusion: Patients with complex partial epilepsy presented poorer results in the intelligence test when compared with individuals without neuropsychiatric disorders.

Distribution of antibodies against Neospora caninum, BVDV and BHV-1 among cows in brazilian dairy herds with reproductive disorders.

Neospora caninum, bovine viral diarrhea virus (BVDV) and bovine herpes virus 1 (BHV-1) are worldwide spread pathogens associated with reproductive problems in cattle. The present work aimed to observe the infection pattern of these three pathogens in two dairy herds with distinct reproductive managements from Triângulo Mineiro, Minas Gerais State, Brazil. The herds were not vaccinated against either N. caninum, BVDV or BHV-1. Blood samples were collected and analyzed for presence of specific antibodies, and N. caninum IgG avidity was measured in N. caninum positive samples. In herd 1, 34 out of 174 sampled cows (20%) had antibodies to N. caninum and the seropositivity of BVDV and BHV-1 were 62% and 86%, respectively. Of 69 sampled cows in herd 2. 7 (10%) had antibodies to N. caninum, and 49% and 39% were seropositive to BVDV and BHV-1, respectively. The IgG avidity profiles indicated that N. caninum had been present in both herds for some years and that herd 1 had an ongoing horizontal spread of the parasite. The results indicate that the studied reproductive pathogens were present in the herds and partly may have contributed to their reproductive problems.

Assessment of health-related quality of life in children with functional defecation disorders

Objective: To evaluate the health-related quality of life in children with functional defecation disorders. Methods: One hundred children seen consecutively were enrolled and subdivided into three subsets according to the Roma II classification criteria: functional constipation (n = 57), functional fecal retention (n = 29) and nonretentive functional soiling (n = 14). The generic instrument Child Health Questionnaire - Parent Form 50 (CHQ-PF50®), was used to measure quality of life and to assess the impact of these disorders from the point of view of parents. The instrument measures physical and psychosocial wellbeing in 15 health domains, each of which is graded on a scale from 0 to 100, with higher values indicating better health and greater wellbeing. Ten of these are then used to obtain two aggregated and summary scores: the physical and psychosocial scores. Results: No statistically significant differences were detected between subsets in terms of demographic or anthropometric characteristics. In 14 domains, children with defecation disorders scored lower than healthy children. When subsets were compared, statistically significant differences were detected between children with nonretentive functional soiling (lower scores) and those with functional constipation. Physical and psychosocial scores for the entire sample were lower than those for the group of healthy children used as controls. Conclusions: The CHQ-PF50® was considered adequate for demonstrating compromised quality of life in children with functional defecation disorders, as has been reported for other diseases, being a useful tool for making treatment decisions and for patient follow-up. Copyright © 2006 by Sociedade Brasileira de Pediatria.

Characterization of language disorders in children with lead poisoning

Background: lead poisoning can have a negative impact on the neuropsychological functions, including language, due to the damage it causes to the developthent of the Central Nervous System. Aim: to verify the occurrence of language disorders in children who suffered from led poisoning and to verify the correlation between the lead concentration level in the blood and the language disorders presented by the children. Method: language evaluation of 20 preschoolers, with lead concentration level in the blood above 10μg/dl. Results: 13 children presented language impairment involving only phonology or more than one language subsystem. The statistical analysis indicated that no correlation exists between the severity of the language impairment and the concentration levels of lead. Conclusion: the number of children with language impairment indicates lead poisoning as a risk factor for the present alterations, even though other risk factors for language disorders were found and the absence of correlation between the investigated variables.

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies. ©FUNPEC-RP.

Mandible protrusion and decrease of TMJ sounds: An electrovibratographic examination

This study quantified by, electrovibratography, the amount of mandible protrusion required to decrease significantly temporomandibular joint (TMJ) vibratory energy as an aid in the diagnosis of the recapture of anteriorly displaced disk. Eighteen patients diagnosed as having anterior disk displacement with reduction and TMJ clicking were submitted to electrovibratographic examination at the first appointment and treated with a stabilizing appliance and anterior positioning appliance with 1 to 5 mm protrusion. Vibratory energy was checked in each of these positions. Baseline data were used as control. At the first appointment, the patients had vibrations with more elevated intensities at the middle and late phases of the mouth opening cycle. At only one clinical step, mandible protrusion was obtained with the anterior repositioning appliance, ranging from 1 to 5 mm protusion. At each new position, a new electrovibratographic exam was made. After the 5-mm mandibular projection, only 2 patients presented vibration, with means between 0.6 and 2.8 Hz. Data were analyzed statistically by ANOVA and Tukey's test (α=0.05). The outcomes of this study indicate that 3 mm is the minimum amount of mandible protrusion to significantly decrease the TMJ vibratory energy and to recapture the displaced articular disk.

Utilização do alcohol use disorders identification test (Audit) para identificação do consumo de álcool entre estudantes do ensino médio

Alcohol is one of the drugs most widely used among teenagers. Just recently, studies have been developed regarding the screening of use of alcohol by this population. This work aimed to investigate the use of AUDIT as a method for screening and evaluation of alcohol consumption among High School students. The sample was composed by 1227 students from two public schools, who answered to the Alcohol Use Disorders Identification Test (AUDIT) and informed their socioeconomic level, religion, and occurrence of relationship problems caused by drunkenness of family members. Using an 8 cut-off point, AUDIT has identified 17.8% of students with risk drinking. These results have revealed that AUDIT is easy to be applied and well accepted by the students. It was also evident the importance of this instrument in the follow-up programs of prevention and intervention of alcoholic beverages use.

Hallazgos clínico-radiológicos de la articulación temporomandibular en pacientes con artritis reumatoide

Aim of present paper is to describe and to assess the Clinicoradiological findings of the temporomandibular joint (TMJ) in a group of patients diagnosed with rheumatoid arthritis (RA). Sample included 61 patients with a mean age of 54 years and 5 months. All of them were interrogated and clinically examined and then underwent to a radiographic examination of both TMJs, using the transcranial projection technique, with the closed mouth and in maximal opening. Study includes the TMJ syndrome founded such as pain, tumefaction, luxation, clicking, and a limited oral opening. The study of radiographic features showed the presence of changes in condyle surface and temporal fossa, in condylar motility, and articulation space. We conclude that in patients presenting with rheumatoid arthritis is frequent the presence of clinicoradiological findings in the TMJ, and that patient's age and gender and the activity level and the RA course time, are factors influencing in TMJs general status.

Electromyographic evaluation of the temporal muscle after the use of interocclusal splints with a vibrating device in individuals with sleep bruxism

This is the first study performed with an interocclusal splint with a vibrating device on patients with sleep bruxism. The purpose of the present study was to evaluate the effectiveness of the splint with vibrating device on patients who suffer from sleep bruxism through computerized electromyography (EMG) of the anterior temporal muscles. Eight male and female patients, ranging in age from 18 to 28 years, with evident signs and symptoms of bruxism were selected. The splint were made for the upper arch. The patients was treated with the interocclusal splint with a vibrating device, and submitted to EMG evaluations of the anterior temporal muscles on both sides. The evaluations were performed at the beginning of treatment and after 21 days of splint use. Electromyography was performed in an isometric contractions measuring of the temporal muscles. The following results obtained revealed that: when closing the mandible (isometric contraction), the anterior temporal muscles had an expressive reduction in electromyographic activity (p. < 0.10), so this splints were considered effective for patients who suffer from sleep bruxism. © 2009 Springer-Verlag.

Eating disorders in patients with obsessive-compulsive disorder: Prevalence and clinical correlates

Objective: The objective is to evaluate the prevalence and associated clinical characteristics of eating disorders (ED) in patients with obsessive-compulsive disorder (OCD). Method: This is a cross-sectional study comparing 815 patients with OCD. Participants were assessed with structured interviews and scales: SCID-I, Y-BOCS, (Int J Eat Disord 2010; 43:315-325) Dimensional Y-BOCS, BABS, Beck Depression and Anxiety Inventories. Results: Ninety-two patients (11.3%) presented the following EDs: binge-eating disorders [= 59 (7.2%)], bulimia nervosa [= 16 (2.0%)], or anorexia nervosa [= 17 (2.1%)]. Compared to OCD patients without ED (OCD-Non-ED), OCD-ED patients were more likely to be women with previous psychiatric treatment. Mean total scores in Y-BOCS, Dimensional Y-BOCS, and BABS were similar within groups. However, OCD-ED patients showed higher lifetime prevalence of comorbid conditions, higher anxiety and depression scores, and higher frequency of suicide attempts than did the OCD-Non-ED group. Primarily diagnosed OCD patients with comorbid ED may be associated with higher clinical severity. Discussion: Future longitudinal studies should investigate dimensional correlations between OCD and ED. © 2009 Wiley Periodicals, Inc.

COX-2 and TGF-β expression in proliferative disorders of canine prostate

COX-2 and TGF-β expression was determined in order to correlate non-neoplastic lesions, preneoplastic lesions and carcinoma in the prostate of dogs. The results show that neoplastic and preneoplastic lesions express more COX-2 and TGF-β when compared to carcinomas, which suggests these proteins may cooperate in the process of prostate tumorigenesis.