COOP/WONCA Charts as a Screen for Mental Disorders in Primary Care

PURPOSE most people with mental disorders receive treatment in primary care. The charts developed by the Dartmouth Primary Care Cooperative Research Network (COOP) and the World Organization of National Colleges, Academies, and Academic Associations of General Practitioners/Family Physicians (WONCA) have not yet been evaluated as a screen for these disorders, using a structured psychiatric interview by an expert or considering diagnoses other than depression. We evaluated the validity and feasibility of the COOP/WONCA Charts as a mental disorders screen by comparing them both with other questionnaires previously validated and with the assessment of a mental health specialist using a structured diagnostic interview. METHODS We trained community health workers and nurse assistants working in a collaborative mental health care model to administer the COOP/WONCA Charts, the 20-item Self-Reporting Questionnaire (SRQ-20), and the World Health Organization Five Well-Being Index (WHO-5) to 120 primary care patients. A psychiatrist blinded to the patients' results on these questionnaires administered the SCID, or Structured Clinical Interview for the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition). RESULTS The area under the receiver operating characteristic curve was at least 0.80 for single items, a 3-item combination, and the total score of the COOP/WONCA Charts, as well as for the SRQ-20 and the WHO-5, for screening both for all mental disorders and for depressive disorders. The accuracy, sensitivity, specificity, and positive and negative predictive values of these measures ranged between 0.77 and 0.92. Community health workers and nurse assistants rated the understandability, ease of use, and clinical relevance of all 3 questionnaires as satisfactory. CONCLUSIONS One-time assessment of patients with the COOP/WONCA Charts is a valid and feasible option for screening for mental disorders by primary care teams.

Acupuncture and Temporomandibular Disorders: A 3-Month Follow-up EMG Study

Objectives: The purpose of this study was to investigate the levels of electromyographic (EMG) activation and maximal molar bite force before and after a 3-month acupuncture therapy in individuals with temporomandibular disorder (Helkimo Index) from a pool of subjects attending the Special Care Course of the Ribeirao Preto Dental School, Sao Paulo University, Brazil. Design: All 17 patients, aged between 37 and 50 years (44.2 +/- 4.84 years), with an average weight of 71 +/- 9.45 kg and height of 1.64 +/- 0.07 m, were clinically examined with regard to pain and dysfunctions of the masticatory system. The temporomandibular acupuncture points of needling were IG4, E6, E7, B2, VB14, VB20, ID18, ID19, F3, E36, VB34, E44, R3, and HN3. EMG measures were acquired before and after the treatment using a MyoSystem-BR1 electromyographer. The data collected at rest, protrusion, left and right laterality, and clenching were normalized by maximum voluntary contraction. Maximal bite force in right and left molar regions were registered using a dynamometer with a capacity of up to 1000 N, adapted for oral conditions. The highest value out of three recordings was considered to be the individual's maximal bite force. The results were statistically analyzed using the paired t test (SPSS version 15.0) during the comparison before and after treatment. Results: We found decreased EMG activity at rest, protrusion, left and right laterality, and clenching; as well as increased values of maximal bite force after acupuncture treatment. Conclusions: Acupuncture promoted alterations in the EMG activity of masticatory muscles, increased maximal molar bite force, and led to remission of the subjects' painful symptomatology.

Polarity-Dependent Transcranial Direct Current Stimulation Effects on Central Auditory Processing

Given the polarity dependent effects of transcranial direct current stimulation (tDCS) in facilitating or inhibiting neuronal processing, and tDCS effects on pitch perception, we tested the effects of tDCS on temporal aspects of auditory processing. We aimed to change baseline activity of the auditory cortex using tDCS as to modulate temporal aspects of auditory processing in healthy subjects without hearing impairment. Eleven subjects received 2mA bilateral anodal, cathodal and sham tDCS over auditory cortex in a randomized and counterbalanced order. Subjects were evaluated by the Random Gap Detection Test (RGDT), a test measuring temporal processing abilities in the auditory domain, before and during the stimulation. Statistical analysis revealed a significant interaction effect of time vs. tDCS condition for 4000 Hz and for clicks. Post-hoc tests showed significant differences according to stimulation polarity on RGDT performance: anodal improved 22.5% and cathodal decreased 54.5% subjects' performance, as compared to baseline. For clicks, anodal also increased performance in 29.4% when compared to baseline. tDCS presented polarity-dependent effects on the activity of the auditory cortex, which results in a positive or negative impact in a temporal resolution task performance. These results encourage further studies exploring tDCS in central auditory processing disorders.

Mutations of the KISS1 Gene in Disorders of Puberty

Context: Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R) cause isolated hypogonadotropic hypogonadism (IHH). A unique KISS1R-activating mutation was described in central precocious puberty (CPP). Objective: Our objective was to investigate KISS1 mutations in patients with idiopathic CPP and normosmic IHH. Patients: Eighty-three children with CPP (77 girls) and 61 patients with IHH (40 men) were studied. The control group consisted of 200 individuals with normal pubertal development. Methods: The promoter region and the three exons of KISS1 were amplified and sequenced. Cells expressing KISS1R were stimulated with synthetic human wild-type or mutant kisspeptin-54 (kp54), and inositol phosphate accumulation was measured. In a second set of experiments, kp54 was preincubated in human serum before stimulation of the cells. Results: Two novel KISS1 missense mutations, p.P74S and p.H90D, were identified in three unrelated children with idiopathic CPP. Both mutations were absent in 400 control alleles. The p.P74S mutation was identified in the heterozygous state in a boy who developed CPP at 1 yr of age. The p.H90D mutation was identified in the homozygous state in two unrelated girls with CPP. In vitro studies revealed that the capacity of the P74S and H90D mutants to stimulate IP production was similar to the wild type. After preincubation of wild-type and mutant kp54 in human serum, the capacity to stimulate signal transduction was significantly greater for P74S compared with the wild type, suggesting that the p.P74S variant is more stable. Only polymorphisms were found in the IHH group. Conclusion: Two KISS1 mutations were identified in unrelated patients with idiopathic CPP. The p.P74S variant was associated with higher kisspeptin resistance to degradation in comparison with the wild type, suggesting a role for this mutation in the precocious puberty phenotype. (J Clin Endocrinol Metab 95: 2276-2280, 2010)

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, 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. (C) 2009 by Wiley Periodicals, Inc.

46,XY disorders of sex development (DSD)

The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.

Alcohol use disorders in patients with obsessive-compulsive disorder: The importance of appropriate dual-diagnosis

Objective: To evaluate the prevalence and clinical associated factors of alcohol use disorders (AUD) comorbidity in a large clinical sample of patients with obsessive-compulsive disorder (OCD). Methods: A cross-sectional study including 630 DSM-IV OCD patients from seven Brazilian university services, comparing patients with and without AUD comorbidity. The instruments of assessment used were a demographic and clinical questionnaire including evaluation of suicidal thoughts and acts and psychiatric treatment, the Structured Clinical Interview for DSM-IV Axis I disorders (SCID-I), the Yale-Brown Obsessive-Compulsive Scale, the Dimensional Yale-Brown Obsessive-Compulsive Scale, the Brown Assessment of Beliefs Scale, the Beck Depression and Anxiety Inventories and the Clinical Global Impression Scale. Current or past alcohol and other psychoactive substances use, abuse and dependence were assessed using the SCID-I (section E) and corroborated by medical and familial history questionnaires. Results: Forty-seven patients (7.5%) presented AUD comorbidity. Compared to OCD patients without this comorbidity they were more likely to be men, to have received previous psychiatric treatment, to present: lifetime suicidal thoughts and attempts and to have higher scores in the hoarding dimension. They also presented higher comorbidity with generalized anxiety and somatization disorders, and compulsive sexual behavior. Substance use was related to the appearance of the first O.C. symptoms and symptom amelioration. Conclusions: Although uncommon among OCD treatment seeking samples, AUD comorbidity has specific clinical features, such as increased risk for suicidality, which deserve special attention from mental health professionals. Future studies focused on the development of specific interventions for these patients are warranted. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and Treatment

Human recombinant growth hormone (hGH) has been used to treat short stature in several different conditions, but considerable inter-individual variation in short- and long-term growth response exists. Pharmacogenomics can provide important insights into hGH therapy. The GH receptor (GHR) is the first key molecule mediating GH action. In the past 3 years, a common GHR polymorphism reflecting the presence (GHRf1) or absence (GHRd3) of exon 3 has been under intensive investigation regarding its influence on the response to hGH therapy. Studies that evaluated response to GH treatment determined by these two GHR isoforms in children with GH deficiency, girls with Turner syndrome, children born small for gestational age and patients with acromegaly showed that patients carrying the GHRd3 allele demonstrated a greater GH sensitivity than patients homozygous for the GHRf1 allele. Other studies presented contradictory data, however, which may be caused by confounding factors such as small sample sizes and differences in experimental design. This GHR exon 3 genotype is the first identified genetic factor found to modulate the individual response to GH therapy. This article reviews the historical aspects and pharmacogenetic studies published to date in relation to this GHR polymorphism. The analyses of present and future validation studies may define the use of this and other polymorphisms in clinical practice, moving from pharmacogenetics to routine application and allowing individualization of hGH doses to optimize final outcome. Copyright (C) 2009 S. Karger AG, Basel

Anxiety Disorders and Rheumatic Fever: Is There an Association?

Introduction: Findings suggest that obsessive-compulsi e disorder (OCD) and related disorders, referred to as obsessive-compulsive spectrum disorders (OCSDs), are more common in patients with rheumatic fever (RF). Objectives: To determine whether RF or Sydenham`s chorea increases the probability of anxiety disorders in the relatives of individuals with RF with and without SC. Methods: This was a case-Control family study in which 98 probands and 389 first-degree relatives (FDRs) were assessed using structured psychiatric interviews. A Poisson regression model was used to determine whether the presence of any disorder in one family member influences the rate of disorders in the remaining family members. Results: Generalized anxiety disorder (GAD) occurred more frequently in the FDRs of RF probands than in those of control probands (P=.018). The presence of RF,GAD, or separation anxiety disorder in one family member significantly increased the chance of OCSDs in another member of the family.

Mutations of the thyroglobulin gene and its relevance to thyroid disorders

Purpose of review To perform an update review on thyroglobulin gene mutations associated with congenital hypothyroidism, thyroid cancer, and autoimmunity. Recent findings Forty-two thyroglobulin mutations have been identified in dyshormonogenetic congenital hypothyroidism. Clinical and laboratory criteria defining defective thyroglobulin synthesis are mostly related to thyroglobulin mutations, generally caused by intracellular thyroglobulin transport defects to the colloid rather than defects in thyroid hormones synthesis. Some mutated thyroglobulin may escape the rigorous chaperone control and reach the colloid, allowing a wide phenotypic spectrum that includes euthyroidism in an adequate iodine environment. In some patients, continuous levothyroxine treatment does not reduce elevated serum thyroid-stimulating hormone (TSH) levels that may lead to goiter development. Prenatally, inactive mutant thyroglobulin will not be able to synthesize thyroid hormones and may increase pituitary thyrotroph threshold for thyroid hormone feedback. Congenital goiter is a risk factor for thyroid cancer and some thyroglobulin variants may confer susceptibility to thyroid autoimmunity. Summary Advances in the understanding of thyroglobulin genetic defects and its severity should allow researchers to perform adequate molecular diagnosis, genetic counseling, and intrauterine treatment to prevent subtle deficits in central nervous system development. This knowledge should improve the understanding of physiological functions of the thyroid and influence of nutritional iodine.

Thyroid and the environment: exposure to excessive nutritional iodine increases the prevalence of thyroid disorders in Sao Paulo, Brazil

Objective: To evaluate the prevalence of chronic autoimmune thyroiditis (CAT) and iodine-induced hypothyroidism, hyperthyroidism (overt and subclinical). and goiter in a population exposed to excessive iodine intake for 5 years (table salt iodine concentrations: 40-100 mg/kg salt). Design: This was a population-based, cross-sectional study with 1085 participants randomly selected from a metropolitan area in Sao Paulo, Brazil, and conducted during the first semester of 2004. Methods: Thyroid ultrasound examination was performed in all participants and samples of urine and blood were collected from each subject. Serum levels of thyroid-stimulating hormone, free thyroxine, and anti-thyroid peroxidase (TPO) antibodies, urinary iodine concentration. thyroid volume, and thyroid echogenicity were evaluated. We also analyzed table salt iodine concentrations. Results: At the time the study was conducted, table salt iodine concentrations were within the new official limits (20-60 mg/kg salt). Nevertheless, in 45.6%, of the participants, urinary iodine excretion was excessive (above 300 mu g/l) and, in 14.1%, it was higher than 400 mu g/l. The prevalence of CAT (including atrophic thyroiditis) was 16.9% (183/1085), women were more affected than men (21.5 vs 9.1% respectively, P=0.02). Hypothyroidism was detected in 8.0%, (87/1085) of the Population with CAT. Hyperthyroidism was diagnosed in 3.3% of the individuals (36/1085) and goiter was identified in 3.1% (34/1085). Conclusions: Five years of excessive iodine intake by the Brazilian population may have increased the prevalence of CAT and hypothyroidism in subjects genetically predisposed to thyroid autoimmune diseases. Appropriate screening for early detection of thyroid dysfunction may be considered during excessive nutritional iodine intake.

Repetitive transcranial magnetic stimulation improve tinnitus in normal hearing patients: a double-blind controlled, clinical and neuroimaging outcome study

Background and purpose: Tinnitus is a frequent disorder which is very difficult to treat and there is compelling evidence that tinnitus is associated with functional alterations in the central nervous system. Targeted modulation of tinnitus-related cortical activity has been proposed as a promising new treatment approach. We aimed to investigate both immediate and long-term effects of low frequency (1 Hz) repetitive transcranial magnetic stimulation (rTMS) in patients with tinnitus and normal hearing. Methods: Using a parallel design, 20 patients were randomized to receive either active or placebo stimulation over the left temporoparietal cortex for five consecutive days. Treatment results were assessed by using the Tinnitus Handicap Inventory. Ethyl cysteinate dimmer-single photon emission computed tomography (SPECT) imaging was performed before and 14 days after rTMS. Results: After active rTMS there was significant improvement of the tinnitus score as compared to sham rTMS for up to 6 months after stimulation. SPECT measurements demonstrated a reduction of metabolic activity in the inferior left temporal lobe after active rTMS. Conclusion: These results support the potential of rTMS as a new therapeutic tool for the treatment of chronic tinnitus, by demonstrating a significant reduction of tinnitus complaints over a period of at least 6 months and significant reduction of neural activity in the inferior temporal cortex, despite the stimulation applied on the superior temporal cortex.

Validation of ASHA FACS-Functional Assessment of Communication Skills for Alzheimer Disease Population

This study vas aimed to validate the American Speech-Language-Hearing Association Functional Assessment Of Communication Skills (ASHA FACS) for a Brazilian population. The scale was translated and adapted into Portuguese. Thirty-two patients with mild Alzheimer disease (AD). 25 patients with moderate AD. and 51 elderly without dementia were examined with Mini Mental State Examination, Geriatric Depression Scale. and Alzheimer Disease Assessment Scale-Cognitive subscale (ADAS-cog). The ASHA FACS was answered by their relative/caregiver. The scale`s internal consistency. its inter-examiner and intra-examiner`s reproducibility. and scale`s criterion validity were researched by correlation with ADAS-cog,. The sensitivity and specificity Were also researched. Statistical analyses indicated that the ASHA FACS has excellent internal consistency (Cronbach alpha = 0.955), test-retest reliability (interclass correlation coefficient = 0.995; P < 0.001). and inter-examiners (interclass correlation coefficient = 0.998: P < 0.001). It showed excellent criterion validity when correlated with ADAS-cog,. The ASHA FACS scale showed good sensitivity (75.0%) and specificity (82.4%) values once it is an ecologic and broad evaluation. The ASHA FACS Portuguese version is a valid and reliable instrument to verify communication alterations in AD patients and fills an important gap of efficiency indicators for speech language therapy in our country.

The gaps-in-noise test: Gap detection thresholds in normal-hearing young adults

The aim of this study was to establish parameters for the gaps-in-noise test in normal-hearing young adults. One hundred subjects (50 males and 50 females) received an audiological evaluation to rule out hearing loss and auditory processing disorder. The gaps-in-noise test was then conducted on all subjects. The mean gap detection threshold was 4.19 ms. A psychometric function by gap duration was constructed, revealing that the percentage of correct responses was less than or equal to 5% for a gap duration of 2 ms, 10-30% for a gap duration of 3 ms, 60-70% for a gap duration of 4 ms, and over 96% for gap durations of 5 ms or longer. The results suggest that the data obtained can be applied as reference values for future testing. In the subjects evaluated, the gaps-in-noise test proved to be consistent with low variability.

Tone-evoked ABR in full-term and preterm neonates with normal hearing

This study was designed to investigate the feasibility of applying tone-ABRs in the nursery and neonatal intensive care unit (NICU), and to provide normative tone-ABR data from neonates. Normative tone-ABR latency data were determined. The study obtained intensity series of tone-ABRs from thirty preterm neonates and twenty fullterm neonates who had confirmed normal peripheral auditory function after passing both an OAE and ABR screening examination. ABRs were collected in response to 500, 1500, and 4000 Hz tone bursts at 70, 50, 30, and 20 dB nHL. Mean wave V latencies were compared between groups, ears, and by gender. Responses to tone bursts of 20 and 30 dB nHL were detected in 97% and 100% of all ears respectively, in addition to responses to the higher-intensity stimuli. Preterm neonates` ABRs showed significantly longer latencies than those of the full-term infants. Tone-ABR evaluation was found to be both feasible and reliable as a measure of auditory function in neonates.