An update in thinking about nonorganic voice disorders

OBJECTIVE: To describe and evaluate psychosocial factors in nonorganic voice disorders (NVDs). Nonorganic voice disorders are presumed to be the result of increased muscular tension that is caused to varying extents by vocal misuse and emotional stress. It is therefore necessary to include both of these in the diagnosis and treatment of patients with voice disorders. DESIGN: Clinical survey. SETTING: Academic tertiary referral center. PATIENTS: To evaluate psychosocial factors in NVDs, a sample of 74 patients with NVDs was examined psychologically using the Giessen Test and Picture Frustration Test. The results were compared with a control group of 19 patients with an organic dysphonia (vocal cord paralysis). MAIN OUTCOME MEASURES: Six scales of the Giessen Test (social response, dominance, control, underlying mood, permeability, and social potency), 3 reaction types of the Picture Frustration Test (obstacle dominance, ego defense, and need persistence), and 3 aggression categories of the Picture Frustration Test (extrapunitivity, intropunitivity, and impunitivity). RESULTS: The most striking significant difference between the 2 groups was that in conflict situations, patients with NVDs sought a quick solution or expected other people to provide one, which prevented them from understanding the underlying causes of the conflict. CONCLUSIONS: Only if the psychosocial aspects are taken into account can patients with NVD be offered a therapy that treats the causes of the voice disorder. It must be decided individually whether and when a voice training approach or a more psychological-psychotherapeutical approach is preferable.

Dystonic movement disorders and spinal degenerative disease

The occurrence of degenerative spinal disease subsequent to dystonic movement disorders has been neglected and has received more attention only recently. Spinal surgery is challenging with regard to continuous mechanical stress when treatment of the underlying movement disorder is insufficient. To characterize better the particular features of degenerative spinal disease in patients with dystonia and to analyze operative strategies, we reviewed the available published data. Epidemiologic studies reveal that degenerative spinal disorders in patients with dystonia and choreoathetosis occur much earlier than in the physiological aging process. Dystonic movement disorders more often affect the spine at higher cervical levels (C(2-5)), in contrast to spinal degeneration with age which manifests more frequently at the middle and lower cervical spine (C(5-7)). Degenerative changes of the cervical spine are more likely to occur on the side where the chin is rotated or tilted to. Various operative approaches for treatment of spinal pathologies have been advocated in patients with dystonic movement disorders. The available data do not allow making firm statements regarding the superiority of one approach over the other. Posterior approaches were first used for decompression, but additional anterior fusion became necessary in many instances. Anterior approaches with or without instrumented fusion yielded more favorable results, but drawbacks are pseudarthrosis and adjacent-level disease. Parallel to the development of posterior fusion techniques, circumferential surgery was suggested to provide a maximum degree of cord decompression and a higher fusion rate. Perioperative local injections of botulinum toxin were used initially to enhance patient comfort with halo immobilization, but they are also applied in patients without external fixation nowadays. Treatment algorithms directed at the underlying movement disorder itself, taking advantage of new techniques of functional neurosurgery, combined with spinal surgery have recently been introduced and show promising results.

Screening for sleep disorders in community pharmacies--evaluation of a campaign in Switzerland

BACKGROUND: In 2003 the Swiss federation of pharmacists organized a campaign "sleep disturbances--daytime sleepiness". The goal was to assist pharmacy clients in detecting likely causes of any sleep disturbance or daytime sleepiness through a free of charge screening, and to deliver targeted counselling. For pharmacy practice there are no screening or triage guidelines to assess the severity of sleep and wakefulness disturbances and potential causes for those disturbances. In this paper the outcome of the campaign in terms of feasibility, participation, observed response patterns, sale of over-the-counter (OTC) sleeping pills, and counselling activities is evaluated. METHODS: The Stanford sleep disorders questionnaire and the Epworth sleepiness scale served to identify patterns of symptoms suggestive of four major categories of sleep disorders. The questionnaires were posted on a web-site and the clients' data were entered online in the pharmacies. A report was automatically generated and immediately available online to the pharmacists. The pharmacists documented separately their counselling activities in a pharmacist's activity report. RESULTS: Six hundred and twenty-two (23%) of 2743 pharmacy clients had response patterns suggestive of obstructive sleep apnoea, 418 (15%) of restless-legs-syndrome, 39 (1%) of a sleep disorder potentially associated with a psychiatric condition and 79 (3%) of narcolepsy. An Epworth sleepiness score >10 points was found in 567 (21%). After screening, 2345 (86%) pharmacy clients received targeted counselling. Only 216 (8%) purchased an OTC sleeping pill and 704 (26%) were recommended to consult a physician, but of these, 446 (63%) were already under medical supervision. CONCLUSIONS: The online screening tool for sleep disorders and daytime sleepiness was successfully introduced in Swiss pharmacies. Pharmacies were able to assess the pattern of individual sleep disorders and to identify a possible cause in nearly one-third of the cases.

Sleep-wake habits and disorders in a series of 100 adult epilepsy patients--a prospective study

The aim of the study was to assess sleep-wake habits and disorders and excessive daytime sleepiness (EDS) in an unselected outpatient epilepsy population. Sleep-wake habits and presence of sleep disorders were assessed by means of a clinical interview and a standard questionnaire in 100 consecutive patients with epilepsy and 90 controls. The questionnaire includes three validated instruments: the Epworth Sleepiness Scale (ESS) for EDS, SA-SDQ for sleep apnea (SA), and the Ullanlinna Narcolepsy Scale (UNS) for narcolepsy. Sleep complaints were reported by 30% of epilepsy patients compared to 10% of controls (p=0.001). The average total sleep time was similar in both groups. Insufficient sleep times were suspected in 24% of patients and 33% of controls. Sleep maintenance insomnia was more frequent in epilepsy patients (52% vs. 38%, p=0.06), whereas nightmares (6% vs. 16%, p=0.04) and bruxism (10% vs. 19%, p=0.07) were more frequent in controls. Sleep onset insomnia (34% vs. 28%), EDS (ESS >or=10, 19% vs. 14%), SA (9% vs. 3%), restless legs symptoms (RL-symptoms, 18% vs. 12%) and most parasomnias were similarly frequent in both groups. In a stepwise logistic regression model loud snoring and RL-symptoms were found to be the only independent predictors of EDS in epilepsy patients. In conclusion, sleep-wake habits and the frequency of most sleep disorders are similar in non-selected epilepsy patients as compared to controls. In epilepsy patients, EDS was predicted by a history of loud snoring and RL-symptoms but not by SA or epilepsy-related variables (including type of epilepsy, frequency of seizures, and number of antiepileptic drugs).

[Disorders of the origin of the suspensory ligament in the horse: a diagnostic challenge]

Lameness in horses due to pain originating from the proximal metacarpal/metatarsal region remains a diagnostic challenge. In cases of obvious lameness the pain can be localised to this region by diagnostic anaesthesia. Because a variety of disorders can cause lameness in this region different imaging modalities including radiography, ultrasonography and scintigraphy should be used to arrive at an accurate diagnosis. Even though a precise anatomic-pathologic diagnosis can still be an enigma, because not only bone and joints, but also soft tissue structures including the proximal suspensory ligament, its origin at the proximal metacarpus/ metatarsus, its fascia, the superficial fascia, as well as the intermetacarpal/metatarsal ligaments, the accessory ligament of the deep digital flexor tendon and both digital flexor tendons may be involved. Magnet resonance tomography (MRT) shows a high diagnostic sensitivity in imaging soft tissue structures and bone. In horses MRT is still at the beginning. The MRT appearance of the proximal metacarpal/metatarsal region has not yet been evaluated in detail and there are only few anatomic studies of the origin of the suspensory ligament in horses. The first experiences showed, that more gross and histologic examinations are necessary to fully interpret MRT-images and to differentiate pathologic alterations from clinically not relevant variations.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). In the past, mutations of these genes were associated with atherosclerosis and several human cancers. Here, we report a total of nine novel and one known heterozygous sequence variants in the TGFBR1 and TGFBR2 genes in nine of 70 unrelated individuals with MFS-like phenotypes who previously tested negative for mutations in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1). To assess the pathogenic impact of these sequence variants, in silico analyses were performed by the PolyPhen, SIFT, and Fold-X algorithms and by means of a 3D homology model of the TGFBR2 kinase domain. Our results showed that in all but one of the patients the pathogenic effect of at least one sequence variant is highly probable (c.722C > T, c.799A > C, and c.1460G > A in TGFBR1 and c.773T > G, c.1106G > T, c.1159G > A, c.1181G > A, and c.1561T > C in TGFBR2). These deleterious alleles occurred de novo or segregated with the disease in the families, indicating a causative association between the sequence variants and clinical phenotypes. Since TGFBR2 mutations found in patients with MFS-related disorders cannot be distinguished from heterozygous TGFBR2 mutations reported in tumor samples, we emphasize the importance of segregation analysis in affected families. In order to be able to find the mutation that is indeed responsible for a MFS-related phenotype, we also propose that genetic testing for sequence alterations in TGFBR1 and TGFBR2 should be complemented by mutation screening of the FBN1 gene.

Do transsexuals have micturition disorders?

OBJECTIVE: Transsexualism occurs with an estimated prevalence of 2.4:100,000 male-to-female (MTF) and 1:100,000 female-to-male (FTM) transsexuals. As sex reassignment surgery involves surgery of the urethra and transsexuals are substituted life-long with the cross gender hormones there could possibly arise micturition disorders. Aim of the study was to determine if transsexuals have an increased risk of micturition disorders and if so which. STUDY DESIGN: Between January and July 2003 we examined 25 transsexuals whereof 18 were MTF and 7 were FTM transsexuals using King's Health Questionnaire, visual analogue scale for patient's well being, perineal and transabdominal ultrasound, urine dipstick and uroflow measurement. RESULTS: 17 out of 25 patients considered themselves very happy. In MTF transsexuals, a diverted stream, overactive bladder and stress urinary incontinence was a common problem. Prostate volume was small with 20 g and palpation did not confirm and solid or suspicious lesions. None of the patients had significant residual urine but MTF transsexuals had a reduced urinary flow. We could not detect a current urinary tract infections in any of the patients. CONCLUSION: Transsexuals have an increased risk for the development of micturition disorders including stress urinary incontinence and overactive bladder compared to age-matched control groups and should be counselled preoperatively. Reasons for the development of incontinence might be surgery including pudendal nerve damage, hormonal reasons and ageing.

Prescription procedures in medication for relapse prevention after inpatient treatment for alcohol use disorders in Switzerland

In randomized controlled trials with high internal validity, pharmacotherapy using acamprosate, naltrexone, and, to a somewhat lesser extent, disulfiram has proved effective in preventing relapse in patients with alcohol use disorders (AUD). There remains, however, a paucity of studies with sufficient external validity in which the effectiveness of pharmacotherapy in clinical practice is investigated. This study aimed to make a contribution to close this gap in research.

Eosinophilic disorders

Eosinophilic inflammatory responses occur in association with multiple disorders. Although the initial cause and the affected organs vary among the different eosinophilic disorders, there are only 2 major pathways that mediate eosinophilia: (1) cytokine-mediated increased differentiation and survival of eosinophils (extrinsic eosinophilic disorders), and (2) mutation-mediated clonal expansion of eosinophils (intrinsic eosinophilic disorders). Independent from the original trigger, the most common cause of eosinophilia is the increased generation of IL-5-producing T cells. In some cases, tumor cells are the source of eosinophil hematopoietins. The intrinsic eosinophilic disorders are characterized by mutations in pluripotent or multipotent hematopoietic stem cells leading to chronic myeloid leukemias with eosinophils as part of the clone. Here, we propose a new classification of eosinophilic disorders on the basis of these obvious pathogenic differences between the 2 groups of patients. We then discuss many known eosinophilic disorders, which can be further subdivided by differences in T-cell activation mechanisms, origin of the cytokine-producing tumor cell, or potency of the mutated stem cell. Interestingly, many subgroups of patients originally thought to have the idiopathic hypereosinophilic syndrome can be integrated in this classification.

[Emotion activation in personality disorders]

There are at least six psychotherapeutic treatments of personality disorders having received empirical and clinical validation in terms of their efficacy. These treatments are based on different theoretical models, namely the cognitive-behavioural, psychodynamic and interpersonal models. This article briefly presents these treatments, focusing on the process of therapeutic change. It is assumed that the process of emotional activation is one of the most interesting theoretical psychotherapy ingredient in treatments of these patients. The treatments are discussed regarding this hypothesis and its clinical implications.

[Evaluation of the "Schema-focused Emotive Behavioural Therapy" (SET) for Patients with Personality Disorders: Results of a Randomised Controlled Trial.]

The "Schema-focussed Emotive Behavioral Therapy" (SET) was developed by our research group as a new group therapy approach for patients with personality disorders from all clusters (A to C; DSM-IV). It was evaluated in a randomised controlled study (n = 93). Data were collected before and after treatment as well as one year after study entry. A completer analysis was conducted with matched subgroups (n = 60). After therapy, SET patients improved in the outcome domains interactional behavior, strain, and symptomatic complaints (IIP-D, GAF, VEV-VW, BSI-P). Furthermore, they showed a significant lower dropout rate. At the follow-up assessment, Cluster C patients of the experimental group deteriorated with regard to symptomatic complaints (BSI-P). In contrast, cluster B patients improved more over time compared to control subjects. SET seems to be an adequate and effective group therapy with effects that seem to be stable over time, especially for patients with Cluster B diagnosis.

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of hot-spot mutations, heavy workup time, and costs. This study evaluated in a cohort of patients with genetically proven GS or BS diagnostic sensibility and specificity of a diuretic test with oral hydrochlorothiazide (HCT test). Forty-one patients with GS (22 adults, aged 25 to 57; 19 children-adolescents, aged 7 to 17) and seven patients with BS (five type I, two type III) were studied; three patients with "pseudo-BS" from surreptitious diuretic intake (two patients) or vomiting (one patient) were also included. HCT test consisted of the administration of 50 mg of HCT orally (1 mg/kg in children-adolescents) and measurement of the maximal diuretic-induced increase over basal in the subsequent 3 h of chloride fractional clearance. All but three patients with GS but no patients with BS and pseudo-BS showed blunted (<2.3%) response to HCT; patients with BS and the two patients with pseudo-BS from diuretic intake had increased response to HCT. No overlap existed between patients with GS and both patients with BS and pseudo-BS. The response to HCT test is blunted in patients with GS but not in patients with BS or nongenetic hypokalemia. In patients with the highly selected phenotype of normotensive hypokalemic alkalosis, abnormal HCT test allows prediction with a very high sensitivity and specificity of the Gitelman genotype and may avoid genotyping.