Primary Actinomycosis in the breast caused by Actinomyces neuii. A report of 2 cases.

Actinomycosis is a slowly progressive infection caused by anaerobic bacteria, primarily from the genus Actinomyces. Primary actinomycosis of the breast is rare and presents as a mass like density which can mimic malignancy. Mammography, ultrasonography and histopathologic examination is required for diagnosis. Treatment should consist of high doses of antibacterials for a prolonged period of time and possibly surgical drainage. Primary actinomycosis infections are commonly caused by A. israelii. Actinomyces neuii is a less common cause of classical actinomycosis. We present two cases of primary actinomycosis of the breast in two female patients caused by A. neuii.

Prevention of depression in subclinically depressed adults: follow-up effects on the 'Coping with Depression' course.

BACKGROUND: People with subclinical depressive symptoms are at increased risk of depressive disorder, little is known on the prevention of depressive disorder in this population. This study evaluates the long-term preventive effects of an effective depression treatment, the Coping with Depression (CWD) course. This paper describes the effect of the CWD course on the incidence of depressive episodes and depressive symptoms, and explores whether the initial level of symptoms and gender has differential intervention effects. METHODS: Participants (N=104) were adults with subclinical depressive symptoms, who were randomly assigned to either a preventive group course condition, the 'Coping with Depression' course, or to an assessment-and-advice-only control group condition. Follow-up results were measured 6 and 12 months after completion of the course. RESULTS: The CWD course showed to be effective in preventing depressive symptomatology but there was no evidence that the course prevented depressive disorder. 25% of the control group and 27.3% of the course group developed a depressive disorder within a year. Initial depressive symptomatology moderated the outcomes: only participants with low initial symptomatology appeared to benefit in the long term from course participation. CONCLUSIONS: The CWD course is effective as a treatment for subclinical depression. Preventive effects are restricted to participants with initially low depression levels. Therefore, this subgroup should be targeted in future depression-prevention practices and in future prevention studies.

Diagnosis at the first episode to differentiate antidepressant treatment responses in patients with mood and anxiety disorders.

RATIONALE: Co-morbidity of mood and anxiety disorders is often ignored in pharmacotreatment outcome studies and this complicates the interpretation of treatment response. The clinical trials are usually based on single categories from the Diagnostic and Statistical Manual of Mental Disorders (DSM). OBJECTIVES: The present study is a first attempt to differentiate the responses to antidepressants using a design that differs from that used in previous clinical trials. To avoid bias due to co-morbidity, we included patients with any DSM-III-R diagnosis of mood or anxiety disorder for which antidepressant treatment was indicated. We also explored the role of the diagnosis at the first episode in the efficacy of the different antidepressants. METHODS: A total of 92 outpatients with a mood and/or anxiety disorder were randomly assigned to treatment with imipramine or fluvoxamine in a 6-week study. The diagnosis at the first episode--or primary diagnosis--was available for 78 patients, 40 with a primary depression and 38 with a primary anxiety disorder. RESULTS: Analyses using the MIXED procedure for repeated measures showed no general differences between treatment with imipramine and treatment with fluvoxamine. When the primary diagnoses were taken into consideration, differentiation occurred. Patients with primary depression showed better responses to imipramine than to fluvoxamine. The assumption that patients with primary anxiety disorder would respond better to fluvoxamine than imipramine was observed for only the Clinical Global Impression. CONCLUSIONS: The results suggest that the nature of the first illness episode may be more valuable than the DSM categories of mood or anxiety disorders, which may lend support to the concept of primary versus secondary depression for purposes of differentiating treatment responses. Given the exploratory nature of the study, however, replication of our finding is needed.

on the clinical validity of the maslach burnout inventory and the burnout measure.

Abstract Current knowledge about burnout suffers from a healthy worker bias since only working - and thus relatively healthy - employees have been investigated. The main objective of this study is to examine - for the first time among employees who sought psychological treatment - the validity of the two most widely used burnout instruments; the Maslach Burnout Inventory (MBI) and the Burnout Measure (BM). Two groups were distinguished: a "burned out" group (n = 71) that suffers from work-related neurasthenia (according to ICD-10 criteria), and a "non-burned out" group (n = 68). Results show that: (1) the validity of the three-factor structure of the MBI and the BM is confirmed; (2) burnout can partly be differentiated from other mental syndromes (e.g., anxiety and depression); and (3) two MBI-scales (Emotional Exhaustion and Depersonalization) and one BM-scale (Exhaustion) are able to discriminate between burned out and non-burned out employees. The practical implications of these results are discussed.

The impact of interpersonal patient and therapist behavior on outcome in cognitive-behavior therapy. A review of empirical studies.

Empirical studies are reviewed, the aim being to investigate characteristics of the therapeutic relationship in cognitive-behavior therapy (CBT) and to identify therapist or patient interpersonal behavior that affects treatment outcome. CBT is characterized by a more active and directive stance on the part of the therapists and higher levels of emotional support than are found in insight-oriented psychotherapies. Therapists express high levels of empathy and unconditional positive regard, similar to those expressed by insight-oriented psychotherapists. Two clusters of interpersonal behavior have been identified that are clearly associated with CBT outcome: (a) the Rogerian therapist variables--empathy, nonpossessive warmth, positive regard, and genuineness; and (b) therapeutic alliance. There is some evidence for the impact on outcome of three additional clusters of patient behavior: (a) the patients' perception of the therapist as being self-confident, skillful, and active; (b) the patients' openness to discuss their problems; and (c) the patients' pretreatment predisposition to change and to accept psychological treatment as a means of achieving this. It is further concluded that relationship factors in general have a consistent but moderate impact on CBT outcome.

Cri du chat syndrome: changing phenotype in older patients.

The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.

Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in very young children.

BACKGROUND: Patients with multiple endocrine neoplasia (MEN) type 2 are at risk for early medullary thyroid carcinoma (MTC). Recently, the cloning of the ret oncogene has made it possible to identify patients at risk for MEN 2 syndrome with a high degree of reliability before presenting any symptoms. METHODS: Children of families with MEN 2 were screened genetically if one of the parents was a known gene carrier of the RET proto-oncogene. If they were carriers, thyroidectomy was performed. RESULTS: The authors report five children with MEN 2 who underwent prophylactic thyroidectomy irrespective of the results of calcitonin screening tests after genetic screening had shown that they were carrier of the RET proto-oncogene. Apart from a temporary hypocalcemia in one, the operations were uneventful. Pathology results showed MTC in three children of one family with MEN 2A at age 2, 3, and 6 years. In two families with MEN 2B the thyroidectomy specimen showed bilateral MTC in a 1-year-old and a 3-year-old child. CONCLUSIONS: These findings show that MTC occurs at very young age in children with MEN 2. The authors advocate performing prophylactic thyroidectomy in the first year of life in children with MEN 2B and at age 2 years in children with MEN 2A to obtain an optimal cure rate.

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Congenital long QT syndrome (cLQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death. LQTS can occur either as an autosomal dominant (Romano Ward) or as an autosomal recessive disorder (Jervell and Lange-Nielsen syndrome). Mutations in at least five genes have been associated with the LQTS. Four genes, encoding cardiac ion channels, have been identified. The most common forms of LQTS are due to mutations in the potassium-channel genes KCNQ1 and HERG. We have screened 24 Dutch LQTS families for mutations in KCNQ1 and HERG. Fourteen missense mutations were identified. Eight of these missense mutations were novel: three in KCNQ1 and five in HERG. Novel missense mutations in KCNQ1 were Y184S, S373P, and W392R and novel missense mutations in HERG were A558P, R582C, G604S, T613M, and F640L. The KCNQ1 mutation G189R and the HERG mutation R582C were detected in two families. The pathogenicity of the mutations was based on segregation in families, absence in control individuals, the nature of the amino acid substitution, and localization in the protein. Genotype-phenotype studies indicated that auditory stimuli as trigger of cardiac events differentiate LQTS2 and LQTS1. In LQTS1, exercise was the predominant trigger. In addition, a number of asymptomatic gene defect carriers were identified. Asymptomatic carriers are still at risk of the development of life-threatening arrhythmias, underlining the importance of DNA analyses for unequivocal diagnosis of patients with LQTS.

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.

Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.

BACKGROUND: Multiple endocrine neoplasia type 2A (MEN 2A) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Familial MTC (FMTC) is characterized by MTC only. Both MEN 2A and FMTC are caused by germline mutations of the RET proto-oncogene. PURPOSE: To assess genotype/phenotype correlations, large families have to be examined periodically over a long period using an extensive screening program. PATIENTS AND METHODS: Since 1973, we screened a large family with hereditary C cell carcinoma for MTC, pheochromocytoma, and parathyroid disease by clinical tests and imaging methods. A germline codon Cys618 to Ser mutation in the RET proto-oncogene was recently identified in this family. The disease phenotype associated with this mutation was compared with that of Cys634 mutations in some other large MEN 2A families. RESULTS: The distinct course of disease in the family described here is similar to that in other FMTC families and MEN 2A families with a Cys618 mutation of the RET gene, but clearly different from that in families with a Cys634 mutation. The frequency of pheochromocytomas and parathyroid disease is clearly lower, whereas cure rates and life expectancy are higher. However, in families with a Cys618 mutation, pheochromocytoma and parathyroid disease do occur. CONCLUSION: In FMTC families with cysteine codon mutations of the RET proto-oncogene, screening for other endocrinopathies is mandatory, since these may not be MTC-only families. Therefore, we suggest that MEN 2A families should not be subclassified into MEN 2A and FMTC, but rather according to their specific mutation in the RET protein (i.e., for this family MEN 2A RET C618S).

Patient-therapist interaction in the behavioral treatment of panic disorder with agoraphobia.

Although effective behavioral techniques have been developed, what aspects of the patient-therapist interaction affect treatment outcome remain largely unknown. This study hypothesized that the interaction between patient and therapist develops over several phases. Further, the association between behavior modes and treatment outcome was expected to alter as that interaction developed. Thirty patients diagnosed with panic disorder with agoraphobia were treated with a standardized behavioral treatment program of 12 sessions. The interpersonal verbal therapist and patient behavior modes were studied at Sessions 1, 3, and 10, using an observational instrument. It was found that behavior modes change over the course of treatment, in line with predictions derived from social-psychological models. The hypothesis that establishing a therapeutic relationship requires an empathic and nondirective stance by the therapist in Session 1 was partly confirmed.

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?

We report three male siblings with mild mental retardation, congenital cataract, sensorineural deafness, hypogonadism, hypertrichosis and short stature. This combination has not been previously reported and we suggest this is a new syndrome. Although X-linked recessive inheritance cannot be fully excluded, we favour autosomal recessive inheritance because of parental consanguinity.

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.

A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.

In this paper we report the results of a genetic-diagnostic survey of 116 institutionalized male patients who were moderately to severely retarded. In 31 patients (26.7%) a constitutional cause of their mental impairment was found: chromosomal abnormalities in 11 patients (9.5%), Mendelian disorders in 16 (13.8%), of which 8 fragile X patients (6.9%), and a MCA/MR syndrome in 4 patients (3.4%). Acquired forms of mental retardation occurred in 26 patients (22.4%): CNS-dysfunction due to pre-, peri- or postnatal causes were most likely in 18 patients (15.5%), while infections played a major role in 8 (6.9%). In 59 patients (50.9%) not etiological diagnosis could be made.

Predictors of treatment outcome in the behavioural treatment of obsessive-compulsive disorder.

BACKGROUND: An investigation to determine which prognostic variables are associated with behavioural treatment failure in obsessive-compulsive disorder (OCD). Empirically established prognostic variables measured at the start of treatment may lead to adjusted treatment programmes for these patients. METHOD: Forty patients, diagnosed with OCD, received a standardised treatment consisting of 18 sessions in vivo exposure and response prevention. Compulsive behaviour (MOCI) and obsessive fear (ADS) were the outcome measures. Prognostic variables included were initial severity of OC complaints, initial level of depression, problem duration, patients' motivation for treatment, quality of the therapeutic relationship, and marital dissatisfaction. RESULTS: Greater initial severity of complaints (P < 0.01), and depression (P = 0.03) predicted poorer outcome for compulsive behaviour. Greater initial severity of complaints (P < 0.01), and the conjoint variables higher level of depression, longer problem duration, poorer motivation for treatment, and dissatisfaction with the therapeutic relationship predicted poorer outcome for obsessive fear (P < 0.01). CONCLUSIONS: The complaint-related variables of initial severity, initial depression, and problem duration, and the non-specific treatment variables of patients' motivation and quality of the therapeutic relationship, affect behavioural treatment outcome in OCD.

The heterogeneity of schizophrenic information processing and negative versus positive symptoms.

In this study, 20 schizophrenic patients were subdivided into a schizophrenia group with positive symptoms (N = 11) and a schizophrenia group with negative symptoms (N = 9) by Andreasen's rating scales: the Scale for the Assessment of Negative Symptoms and the Scale for the Assessment of Positive Symptoms. These groups were compared with 17 normal controls and 17 subjects with a closed head injury. Indices of information processing derived from Coglab, a multiparadigmatic cognitive test battery developed by Spaulding et al., were used for comparison. The "negative" schizophrenia subjects were characterized by a more pervasive deficient information-processing capacity than the "positive" schizophrenia subjects. The deficits both groups had in common were, however, not of equal severity. The closed head injury group, who served as an indirect control for the presumed generalized deterioration in the negative schizophrenia group, did not compare very well to this latter group. The results are discussed in relation to the question of whether the information-processing deficiencies stem from a single causal process, or whether these deficiencies are independent and associated with many etiological pathways.

Do patients suffering from obsessions alone differ from other obsessive-compulsives?

The aim of this study was to determine whether a group of 48 patients with obsessions and compulsions differed from a group of 26 patients with obsessions alone, on the basis of demographic variables, variables relating to obsessive-compulsive neurosis, psychological variables and treatment outcome. It was found that they differed significantly in the following areas: marital status, level of education, age at onset of complaints, psychoactive medication taken when admitted for treatment, severity of obsessive-compulsive complaints, depression and intelligence. No difference was found as far as treatment outcome was concerned. Patients suffering from obsessions alone, would appear to form a distinct sub-group within the group of obsessive-compulsive patients as a whole.