RESUMO
This European Psychiatric Association (EPA) guidance paper is a result of the Working Group on Mental Health Consequences of Economic Crises of the EPA Council of National Psychiatric Associations. Its purpose is to identify the impact on mental health in Europe of the economic downturn and the measures that may be taken to respond to it. We performed a review of the existing literature that yields 350 articles on which our conclusions and recommendations are based. Evidence-based tables and recommendations were developed through an expert consensus process. Literature dealing with the consequences of economic turmoil on the health and health behaviours of the population is heterogeneous, and the results are not completely unequivocal. However, there is a broad consensus about the deleterious consequences of economic crises on mental health, particularly on psychological well-being, depression, anxiety disorders, insomnia, alcohol abuse, and suicidal behaviour. Unemployment, indebtedness, precarious working conditions, inequalities, lack of social connectedness, and housing instability emerge as main risk factors. Men at working age could be particularly at risk, together with previous low SES or stigmatized populations. Generalized austerity measures and poor developed welfare systems trend to increase the harmful effects of economic crises on mental health. Although many articles suggest limitations of existing research and provide suggestions for future research, there is relatively little discussion of policy approaches to address the negative impact of economic crises on mental health. The few studies that addressed policy questions suggested that the development of social protection programs such as active labour programs, social support systems, protection for housing instability, and better access to mental health care, particularly at primary care level, is strongly needed.
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Recessão Econômica , Saúde Mental/economia , Saúde Mental/normas , Psiquiatria , Sociedades Médicas/normas , Europa (Continente) , Humanos , Psiquiatria/economia , Psiquiatria/métodos , Psiquiatria/normasRESUMO
PURPOSE: To analyze the prevalence of hospitalization attributable to psychosis in Spain over the last three decades. METHODS: Longitudinal analysis (1980-2009) of age-adjusted hospital discharges rates associated with psychosis (ICD9 290-8) in all Spanish hospitals. DATA SOURCE: Spanish Hospital Morbidity Survey. RESULTS: The hospitalization rate associated with psychotic episodes had been gradually increasing since 1980 until 2004; an abrupt turnaround observed in 2004 marks the beginning of a steady decline in the rate. The turning point described is not observed for each of the psychotic diagnoses separately analyzed. However, it is clearly seen when data are grouped in diagnosis-related groups (organic-psychosis, functional psychosis and substance-induced psychosis) since the time course of the diseases within the major diagnostic groups are interrelated as evidenced by shared turning points which collectively display a common time course pattern. Main hospital indicators and antipsychotic drug prescriptions were analyzed for any possible turning point in mid-2000s. Psychiatric hospital beds and length of stays remained stable by 2004; the hospitalizations associated with non-psychotic psychiatric pathologies show no turning point in 2004. However, an abrupt change on antipsychotic drug prescriptions is precisely observed in 2004. CONCLUSIONS: After decades of linear growth, hospitalizations for psychotic patients begin to decline in 2004, coinciding with the start of last generation atypical antipsychotic drug consumption in Spain. Some of the psychotic diagnostic rates evolve in an interrelated manner which calls into question the diagnosis and nosological boundaries between some of these pathologies.
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Hospitalização/estatística & dados numéricos , Hospitalização/tendências , Transtornos Psicóticos/terapia , Antipsicóticos/uso terapêutico , Grupos Diagnósticos Relacionados , Prescrições de Medicamentos/estatística & dados numéricos , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Estudos Longitudinais , Masculino , EspanhaRESUMO
One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D, p.G115D, p.Q126R, p.R171S, p.Y188CfsX9, p.N193S, p.A207D, p.F219SfsX60, p.R227Q and p.R246W) in nine index patients (6.2% of the total number of 46,XY DSD patients). One of the mutations (p.Y188CfsX9) has never been reported. In addition, we genotyped SRD5A2 gene p.V89L and c.281+15T>C polymorphisms in 46,XY DSD and in 156 normal adult males and found that patients with SRD5A2 mutations or without a known molecular diagnosis presented a higher frequency of homozygous p.L89, homozygous TT and combined CCTT genotypes compared with controls. This result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization at birth and normal T production and appears to be the second aetiology in our series.
Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Transtornos do Desenvolvimento Sexual/genética , Proteínas de Membrana/genética , Mutação , Polimorfismo de Nucleotídeo Único , Sequência de Bases , Primers do DNA , Humanos , Reação em Cadeia da Polimerase , EspanhaRESUMO
BACKGROUND: Empirical evidence of the efficacy and effectiveness of psychosocial family intervention and of the specificity of its effects on the course of schizophrenia is limited. The aim was to study the efficacy and effectiveness of psychosocial family intervention with regard to clinical and social functioning and family burden after controlling for compliance and several prognostic factors. METHOD: A 2-year randomized controlled trial with blind assessments. Fifty patients with DSM-IV schizophrenia and persistent positive symptoms and/or previous clinical relapse were allocated to psychosocial family intervention, individual counselling and standard treatment versus individual counselling and standard treatment. RESULTS: Family intervention was associated with fewer clinical relapses, hospitalizations and major incidents, and an improvement in positive and negative symptoms, social role performance, social relations, employment and family burden. The reduction in hospitalizations in the family intervention group was significantly greater than that observed in the group of patients who refused to participate but this was not the case for the control group. The effects of family intervention were independent of compliance and prognostic factors. CONCLUSIONS: Family intervention is effective in severe schizophrenia independently of compliance and prognostic factors.
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Cuidadores/psicologia , Efeitos Psicossociais da Doença , Terapia Familiar , Transtornos Psicóticos/terapia , Esquizofrenia/terapia , Psicologia do Esquizofrênico , Ajustamento Social , Adulto , Antipsicóticos/uso terapêutico , Terapia Combinada , Feminino , Humanos , Masculino , Cooperação do Paciente/psicologia , Escalas de Graduação Psiquiátrica , Psicoterapia , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/psicologia , Esquizofrenia/diagnóstico , Prevenção Secundária , Espanha , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: In Europe, the majority of healthy women give birth at conventional obstetric units with the assistance of registered midwives. This study examines the relationships between the intrapartum transfer of care (TOC) from midwife to obstetrician-led maternity care, obstetric unit size (OUS) with different degrees of midwifery autonomy, intrapartum interventions and birth outcomes. METHODS: A prospective, multicentre, cross-sectional study promoted by the COST Action IS1405 was carried out at eight public hospitals in Spain and Ireland between 2016-2019. The primary outcome was TOC. The secondary outcomes included type of onset of labour, oxytocin stimulation, epidural analgesia, type of birth, episiotomy/perineal injury, postpartum haemorrhage, early initiation of breastfeeding and early skin-to-skin contact. A logistic regression was performed to ascertain the effects of studied co-variables on the likelihood that participants had a TOC; Results: Out of a total of 2,126 low-risk women, those whose intrapartum care was initiated by a midwife (1772) were selected. There were statistically significant differences between TOC and OUS (S1 = 29.0%, S2 = 44.0%, S3 = 52.9%, S4 = 30.2%, p < 0.001). Statistically differences between OUS and onset of labour, oxytocin stimulation, type of birth and episiotomy or perineal injury were observed (p = 0.009, p < 0.001, p < 0.001, p < 0.001 respectively); Conclusions: Findings suggest that the model of care and OUS have a significant effect on the prevalence of intrapartum TOC and the birth outcomes. Future research should examine how models of care differ as a function of the OUS in a hospital, as well as the cost-effectiveness for the health care system.
Assuntos
Parto Obstétrico , Tocologia , Unidade Hospitalar de Ginecologia e Obstetrícia , Estudos Transversais , Atenção à Saúde/estatística & dados numéricos , Parto Obstétrico/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Irlanda , Serviços de Saúde Materna/estatística & dados numéricos , Tocologia/estatística & dados numéricos , Unidade Hospitalar de Ginecologia e Obstetrícia/estatística & dados numéricos , Gravidez , Estudos Prospectivos , Espanha/epidemiologiaRESUMO
BACKGROUND: Thyroid abscess or acute suppurative thyroiditis is an unusual clinical condition. We present our experience with cases attended over 41 years. MATERIALS AND METHODS: A retrospective study was performed on these patients reviewing their epidemiological characteristics and the diagnostic and therapeutic manoeuvres chosen for them all, as well as their clinical outcome. A group of 9 males and 5 females was studied, with ages ranging from 19 to 68 (mean of 40.6±15.4). These patients suffered 22 acute episodes, and 2 patients each had 4 episodes. RESULTS: Suppurative thyroiditis comprised 0.29% of the neck abscesses. Fine needle aspiration was performed in 13 cases to evacuate the collection and isolate the aetiological agent. Mycobacterium tuberculosis and Staphylococcus aureus were the most frequently identified. Nine patients underwent ultrasound and 7 computed tomography imaging studies. Surgery was the option for 10 patients, including drainage for 7, thyroidectomy for 4 and hemithyroidectomy for the remaining 2. Systemic or intralesional antibiotics and sclerosis of the gland were also carried out. Although one case presented with hyperthyroidism and thyrotoxicosis in the acute phase, definitive hypothyroidism was observed in 5 patients at 6 months following discharge. The rate of success was 100%. CONCLUSION: Thyroid gland suppuration is a very infrequent circumstance in neck pathology, and the options for its treatment are varied, from conservative to invasive techniques according to the microbial and radiologic findings.
Assuntos
Abscesso , Doenças da Glândula Tireoide , Tireoidite Supurativa , Abscesso/diagnóstico , Abscesso/epidemiologia , Abscesso/microbiologia , Abscesso/terapia , Doença Aguda , Adulto , Idoso , Antibacterianos/uso terapêutico , Drenagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Irrigação Terapêutica , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/microbiologia , Doenças da Glândula Tireoide/terapia , Tireoidectomia , Tireoidite Supurativa/diagnóstico , Tireoidite Supurativa/epidemiologia , Tireoidite Supurativa/microbiologia , Tireoidite Supurativa/terapia , Adulto JovemRESUMO
This multicenter, uncontrolled, naturalistic study evaluated the effectiveness and tolerability of 6 months of treatment with ziprasidone in 1266 patients with a diagnosis of schizophrenia. The percentage of responders (at least 30% reduction in PANSS total score) in the primary analysis sample (n=1022) was 47.3% (95% CI 44.2-50.4) at the end of the study. Patients showed a significant and clinically relevant reduction in the PANSS total, positive, negative and general psychopathology subscales scores (effect size of 1.60, 1.83, 0.62 and 1.40 respectively). Overall, 453 (35.8%) patients withdrew from the study; 9.3% withdrew owing to adverse events. Ziprasidone doses greater than 120 mg/day were associated with a lower risk of discontinuation for any cause (OR 0.46, 95% CI 0.33-0.65) Ziprasidone was well tolerated. Most common side effects were: insomnia, somnolence and nervousness. The effectiveness and tolerability of ziprasidone in clinical practice are consistent to those previously shown in the more restricted and homogeneous populations of clinical trials.
Assuntos
Antipsicóticos/uso terapêutico , Piperazinas/uso terapêutico , Esquizofrenia/tratamento farmacológico , Tiazóis/uso terapêutico , Administração Oral , Adulto , Antipsicóticos/administração & dosagem , Antipsicóticos/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pacientes Desistentes do Tratamento/estatística & dados numéricos , Piperazinas/administração & dosagem , Piperazinas/efeitos adversos , Estudos Prospectivos , Espanha , Tiazóis/administração & dosagem , Tiazóis/efeitos adversos , Fatores de Tempo , Resultado do TratamentoRESUMO
Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of USH2A gene was carried out in 32 unrelated patients in which both disease-causing mutations could not be found after the screening of the first 21 exons of the USH2A gene. On analysing the new 52 exons, fourteen novel mutations were identified in 14 out of the 32 cases studied, including 7 missense, 5 frameshift, 1 duplication and a putative splice-site mutation.
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Proteínas da Matriz Extracelular/genética , Mutação , Síndromes de Usher/genética , Adolescente , Adulto , Alelos , Éxons , Testes Genéticos , Humanos , Isoformas de Proteínas/genética , EspanhaRESUMO
INTRODUCTION: Hiccup crises are generally benign and self-limiting, but longer episodes affect quality of life and must be treated. There are recognisable causes that otorhinolaryngologists must know and be aware for diagnosis and therapeutic alternatives. The main expression is a spasmodic glottic noise with characteristic neck alterations. PATIENTS AND METHODS: This was a retrospective study from 1979 with patients suffering persistent or recurrent hiccups. Chronobiology, comorbidity, findings from explorations, therapies and outcomes were noted. Thirty-seven patients were studied (mean age, 45.5±13.5 years; 30 males), with persistent hiccups in 23 (62%). RESULTS: A potential associated aetiology was observed in 24 cases (65%): oesophageal disorders -mainly gastroesophageal reflux- were detected in 14 cases and concomitant oncological disease was found in 8. Only 3 cases were admitted for surgery due to these findings. Therapeutic strategies with metoclopramide were used in 18 subjects, chlorpromazine in 17 and baclofen in 13, while carbamazepine or haloperidol were used in a minority. Phrenic nerve stimulation was employed in 6 patients. Hiccups disappeared in 32 cases. Out of 22 cases for which follow-up was possible, the hiccups recurred in 5 subjects (the subjects requiring new therapies) and 11 patients died. CONCLUSIONS: Chronic hiccup represents a multidisciplinary challenge that includes potential head and neck affection, a diagnostic schedule for ruling out causes, frequent base oesophageal alterations and high incidence of malignant neoplasm. Prokinetic and neuroleptic agents with antidopaminergic and anticholinergic effects are the pillars of its treatment.
Assuntos
Soluço , Otolaringologia , Adulto , Idoso , Clorpromazina/uso terapêutico , Doença Crônica , Terapia Combinada , Gerenciamento Clínico , Terapia por Estimulação Elétrica , Doenças do Esôfago/complicações , Feminino , Refluxo Gastroesofágico/complicações , Soluço/diagnóstico , Soluço/epidemiologia , Soluço/etiologia , Soluço/terapia , Humanos , Masculino , Metoclopramida/uso terapêutico , Pessoa de Meia-Idade , Neoplasias/complicações , Neoplasias/terapia , Otolaringologia/métodos , Nervo Frênico , Recidiva , Estudos Retrospectivos , Adulto JovemRESUMO
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnormal electrophoretic pattern. Twenty-five mutations were identified in 23 out of the 48 families studied (47.9%). Twelve of these mutations were novel, including five missense mutations, three premature stop codons, three frameshift, and one putative splice-site mutation. Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
Assuntos
Dineínas/genética , Regulação da Expressão Gênica , Predisposição Genética para Doença , Miosinas/genética , Síndromes de Usher/genética , Análise Mutacional de DNA , Humanos , Modelos Genéticos , Mutação , Miosina VIIa , Polimorfismo Genético , Polimorfismo Conformacional de Fita Simples , EspanhaAssuntos
Vasos Sanguíneos/patologia , Neoplasias Encefálicas/genética , Neoplasias do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação/genética , Neoplasias Primárias Múltiplas/genética , Paraparesia/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias da Medula Espinal/genética , Medula Espinal/patologia , Feminino , Humanos , MasculinoRESUMO
OBJECTIVE: Assessment of factors related to pharyngeal anatomy and surgical technique as possible causes of post-tonsillectomy pain. MATERIALS AND METHODS: This was a prospective observational study that included 42 patients undergoing tonsillectomy with cold and monopolar electric device dissection. We recorded duration of the entire operation, duration of electrocautery use, tonsil size and postoperative pain and discomfort assessed using a visual analogue scale (VS) and a 40-item questionnaire (QoR-40, Quality of Recovery), along with sequelae on returning to normal diet, weight loss and hospital stay. Correlations among quantitative variables were obtained by mean of lineal regression coefficients. RESULTS: Duration of surgery was 22.66 ± 7.07 minutes, removing tonsils with a volume of 6046.07 ± 3866.20 mm(3) and an electrocautery use time of 66.14 ± 37.77 seconds, applying 1984.24 ± 1133.32 joules per patient. The most frequently observed Mallampati classification and tonsil size scores were stages II and III. The VS score increased and QoR-40 decreased at 24 hours and 7 days, but differences were statistically non-significant. Joule amount used for electrocautery was the parameter that correlated the best with discomfort status as measured via assessment scores, analgesic and corticosteroid requirements, weight loss and hospital stay. Pain was higher in subjects submitted to peritonsillar surgical aggression. CONCLUSIONS: Improved use of electrodissection techniques, limiting and focusing the application of its energy, and preservation of peritonsillar mucosa are factors that may lower post-tonsillectomy pain levels.
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Dor Pós-Operatória , Tonsilectomia , Adulto , Eletrocoagulação/efeitos adversos , Humanos , Medição da Dor , Dor Pós-Operatória/etiologia , Tonsila Palatina , Estudos Prospectivos , Tonsilectomia/efeitos adversosRESUMO
Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.
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Biologia Molecular/métodos , Síndromes de Usher/epidemiologia , Síndromes de Usher/genética , Terapia Genética/métodos , Humanos , Prevalência , Espanha/epidemiologia , Síndromes de Usher/terapiaRESUMO
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
Assuntos
Perda Auditiva Neurossensorial/genética , Miosinas/genética , Retinose Pigmentar/genética , Sequência de Bases , Cromossomos Humanos Par 11 , Dineínas , Feminino , Humanos , Masculino , Mutação , Miosina VIIa , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , SíndromeRESUMO
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.
RESUMO
The RPGR (retinitis pigmentosa GTPase regulator) gene has been shown to be mutated in 10-20% of patients with X-linked retinitis pigmentosa (XLRP), a severe form of inherited progressive retinal degeneration. A total of 29 different RPGR mutations have been identified in northern European and United States patients. We have performed mutation analysis of the RPGR gene in a cohort of 49 southern European males affected with XLRP. By multiplex SSCA and automatic direct sequencing of all 19 RPGR exons, seven different and novel mutations were identified in eight of the 49 families; these include three splice site mutations, two microdeletions, and two missense mutations. RNA analysis showed that the three splice site defects resulted in the generation of aberrant RPGR transcripts. Six of these mutations were detected in the conserved amino-terminal region of RPGR protein, containing tandem repeats homologous to the RCC1 protein, a guanine nucleotide-exchange factor for Ran-GTPase. Several exonic and intronic sequence variations were also detected. None of the RPGR mutations reported in other populations were identified in our series. Our results are consistent with the notions of heterogeneity and minority causation of XLRP by mutations in RPGR in Caucasian populations.
Assuntos
Proteínas de Transporte/genética , Proteínas do Olho , Ligação Genética , Mutação , Retinose Pigmentar/genética , Cromossomo X , Sequência de Bases , Análise Mutacional de DNA , Europa (Continente)/epidemiologia , Éxons , Feminino , Deleção de Genes , Variação Genética , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Polimorfismo Genético , Splicing de RNA , Retinose Pigmentar/diagnóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Estados Unidos/epidemiologiaRESUMO
OBJECTIVE: The aim of this research was to study the relationship between the clinical interview skills of primary care physicians and their psychodiagnostic ability during office visits. METHOD: Ten doctors took part in the study, and 233 patients were assessed. The patients were seen and diagnosed by their physicians and interviewed afterward by a psychiatrist using the Present State Examination. All the interviews with the primary care physicians were recorded on videotape, and the Physician's Skills Observation Scale was used to analyze 10 interviews per doctor, five psychiatric cases and five nonpsychiatric cases. RESULTS: The physician's active listening (eye contact, posture, and absence of verbal interruptions) and ability to ask questions with psychological content were associated with the ability to identify the patient's emotional problems. This association was shown to be independent of the physician's characteristics (social, academic, attitudinal, and professional), the sociodemographic characteristics of the patients, the time spent in exploration during the office visit, and the severity of the emotional or somatic disorder. CONCLUSIONS: The findings of this research highlight the need to train primary care physicians in specific interview skills, in order to improve their ability to identify mental disorders in their practices.
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Competência Clínica/normas , Medicina de Família e Comunidade/normas , Transtornos Mentais/diagnóstico , Médicos de Família/normas , Escalas de Graduação Psiquiátrica/normas , Adulto , Idoso , Atitude do Pessoal de Saúde , Escolaridade , Medicina de Família e Comunidade/educação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Comunicação não Verbal , Visita a Consultório Médico , Relações Médico-Paciente , Médicos de Família/educação , Postura , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Índice de Gravidade de Doença , Fatores de Tempo , Gravação de VideoteipeRESUMO
Sixty-two first-episode psychotic patients who were neuroleptic-naive were studied to examine predictors of acute dystonia after treatment with haloperidol. Twenty-three patients developed dystonia, two of them despite being treated with biperiden. Biperiden significantly prevented dystonic reactions. Dystonia development was significantly related to younger age, severity of illness, and negative symptoms at baseline and showed a trend to be related to positive symptoms as well. No significant effect of gender or diagnosis was found. The authors suggest that young, severely ill patients in their first psychotic episode who have never been treated with neuroleptics might be at higher risk to develop dystonia.
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Distonia/induzido quimicamente , Haloperidol/efeitos adversos , Transtornos Psicóticos/tratamento farmacológico , Adolescente , Adulto , Fatores Etários , Biperideno/uso terapêutico , Delusões/tratamento farmacológico , Método Duplo-Cego , Distonia/epidemiologia , Distonia/prevenção & controle , Feminino , Haloperidol/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Placebos , Probabilidade , Esquizofrenia/tratamento farmacológicoRESUMO
We studied the cytoarchitecture, neurochemical organization, and connections of the sagulum. The goal was to clarify its role in midbrain, lateral tegmental, and thalamic auditory processing. On cytoarchitectonic grounds, ventrolateral (parvocellular) and dorsomedial (magnocellular) subdivisions were recognized. The patterns of immunostaining for gamma-aminobutyric acid (GABA) and glycine were distinct. Approximately 5-10% of the neurons were GABAergic, and more than one type was identified; GABAergic axon terminals were abundant in number and varied in form. Glycinergic neurons were much rarer, < 1% of the population, and glycinergic axon terminals were correspondingly sparse. Wheat germ agglutinin conjugated to horseradish peroxidase was used for purposes of connectional mapping, and biotinylated dextran amines revealed the structure of corticosagular axons. All nine cortical areas injected project to the ipsilateral sagulum. Five (areas AI, AII, SF, EPD, and Te) had heavier projections than the others. Areas AI and AII projected throughout the rostrocaudal sagulum. Labeling from AI was moderate in density and concentrated in the central sagulum, whereas the input from AII was heavier and ended more laterally. Suprasylvian fringe input was light, especially caudally, and was chiefly in the central sagulum. The projection from the dorsal region of the posterior ectosylvian gyrus was comparatively stronger and was in the dorsolateral sagulum. Finally, the temporal cortex sent axons to the most lateral sagulum, spanning the dorsoventral extent, whereas insular cortex axons ended diffusely in the dorsolateral sagulum. Corticofugal axons ranged from fine boutons en passant to larger globular terminals. The sagulum may represent the earliest significant opportunity in the ascending auditory pathway for corticofugal modulation. The most extensive input arises from the polymodal association areas. The sagulum then projects divergently to the dorsal cortex of the inferior colliculus and the dorsal division of the medial geniculate body. The projection from the dorsal division of the auditory thalamus to nonprimary auditory cortex completes this circuit between the forebrain and the midbrain and represents a nexus in the ascending and descending auditory systems. Such circuits could play a critical role in auditory-motor adjustments to sound.
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Vias Auditivas/fisiologia , Gatos/fisiologia , Mesencéfalo/metabolismo , Anatomia Artística , Animais , Córtex Auditivo/citologia , Córtex Auditivo/fisiologia , Vias Auditivas/metabolismo , Axônios/metabolismo , Axônios/ultraestrutura , Gatos/metabolismo , Feminino , Glicina/metabolismo , Imuno-Histoquímica , Colículos Inferiores/fisiologia , Masculino , Mesencéfalo/citologia , Mesencéfalo/fisiologia , Neurônios/metabolismo , Neurônios/ultraestrutura , Transmissão Sináptica/fisiologia , Tálamo/fisiologia , Ácido gama-Aminobutírico/metabolismoRESUMO
A mapping study was performed on a 3-generation Spanish family with X-linked syndromal mental retardation. Affected males have a typical facial appearance, ear malformations, abnormal growth of teeth, clinodactyly, dimpled skin at the lower back, and patellar luxation. In pneumoencephalography a marked subcortical cerebral atrophy was evident. In the linkage studies with polymorphic DNA markers, no recombination was found between the disease locus and the loci OTC and DXS148, both assigned to Xp21.1. One or more recombinants were observed between the disease locus and loci from the distal part of Xp and the pericentromeric region. Close linkage to loci of Xq has also been excluded. The analysis of multiple informative meioses suggests that the disease locus maps between DXS255 (Xp11.22) and DXS84 (Xp21.1) on Xp.