Early cognitive deficits in Swedish gene carriers of Huntington's disease.

The primary focus of this study was to examine whether there is early neuropsychological impairment in presymptomatic Huntington's disease (HD). A broad neuropsychological assessment battery was administered to 24 asymptomatic gene carriers (HD+) and 31 noncarriers (HD-). The gene carriers revealed inferior cognitive functioning as compared with the noncarriers in memory and executive functions. When the gene carriers were assigned to 2 groups based on predicted years to onset (with 15 and over being HD+ late and under 15 being HD+ near), the HD+ near group performed significantly worse than the HD+ late group in all domains but ability to shift conceptually and visuospatial memory. Results suggest that early cognitive deficits are detectable prior to motor symptoms, first in memory functions and then in executive functions and perceptual motor speed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Normative data on cognitive measures of depression.

The assessment of cognition and cognitive change is important for case conceptualization, monitoring the efficacy of specific interventions, and evaluating treatment outcome in cognitive-behavioral therapy. Unfortunately, a paucity of normative data exists on cognitive measures used for psychotherapy outcome research in depression, and little information is available to guide a practitioner's understanding of the magnitude and clinical significance of a patient's cognitive change. This article presents normative data on 6 self-report instruments that assess negative and positive automatic thoughts, hopelessness, cognitive biases and errors, and dysfunctional attitudes. Normative data were derived from studies published from the date of inception of a given cognitive index to the year 2000. Recommendations for the use of these normative data are provided. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Regression analyses of repeated measures data in cognitive research.

Repeated measures designs involving nonorthogonal variables are being used with increasing frequency in cognitive psychology. Researchers usually analyze the data from such designs inappropriately, probably because the designs are not discussed in standard textbooks on regression. Two commonly used approaches to analyzing repeated measures designs are considered in this article. It is argued that both approaches use inappropriate error terms for testing the effects of independent variables. A more appropriate analysis is presented, and two alternative computational procedures for the analysis are illustrated. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Role of cognitive style in a cognitive task: A case favoring the impulsive approach to problem solving.

A task that favored the impulsive approach to problem solving was given to impulsive, reflective, fast/accurate, and slow/inaccurate male 3rd and 4th graders. Ss learned to choose 1 of a pair of multidimensional stimuli based upon a single cue. In 1 condition, the stimuli were composed of many dimensions; in the 2nd condition, the stimuli were composed of few dimensions. Reflective Ss solved the task with few dimensions more quickly than impulsive Ss, whereas impulsive Ss solved the task with many dimensions in fewer trials. Fast/accurate and slow/inaccurate Ss solved problems in an intermediate number of trials but also reversed positions as a function of the number of dimensions. Both speed and accuracy components of cognitive style contributed to performance in the cognitive task. (17 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Intellectual and cognitive functions in Parkinson's disease.

Compared the performance of 25 parkinson's disease patients and 25 normals matched for age, race, sex, and education on 32 behavioral variables including the wechsler-bellevue intelligence scale (form i), halstead neuropsychological battery, and R. Reitan's trail making test. Ss with parkinson's disease had lower mean scores than controls on all 32 measures. Statistical comparisons indicated these differences were significant beyond the .001 level for 25 tests, and on only 1 measure was the probability level greater than .05. Results indicate that parkinson's disease patients have suffered marked deterioration not only in motor abilities but also in problem-solving, sensory, memory, general cognitive, and abstracting and organizing abilities. (23 ref.) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Rendu-Osler-Weber disease. Report of a clinical case

Rendu-Osler-Weber disease is an hereditary disorder characterized by cutaneo-mucous telangiectasis and vascular abnormalities in several organs. Bleeding, especially epistaxis, represents the most important clinical feature. Pulmonary arteriovenous fistulae can cause hypoxaemia, haemoptysis, polycythaemia and clubbing. Diagnosis is based on family and personal history, teleangiectasis, laboratory (haemochrome, fibrinogen, PT, PTT) and instrumental findings (endoscopy and/or roentgen). Therapy depends on symptoms. Embolization of pulmonary arteriovenous fistulae and laser treatment of intestinal vascular abnormalities have been successful. Danazol treatment yielded controversial results. We report the case of a patient admitted for arterial hypertension and recurrent epistaxis. Rendu-Osler-Weber disease diagnosis was made based on positivity at family and personal history, clinical examination, laboratory and instrumental findings. In conclusion we underline the pivotal role of anamnesis and clinical examination in the differential diagnosis of hereditary bleeding disorders and emphasize the importance of early diagnosis for the correct therapeutic approach.     

Coronary aneurysm in Behcet''s disease. Report of a case

Polymyositis, dermatomyositis, and inclusion body myositis, although immunopathologically distinct, share 3 dominant histological features: inflammation, fibrosis, and loss of muscle fibers. Progress in molecular immunology and immunogenetics has enhanced our understanding of these cellular processes. Based on the T-cell receptor gene rearrangement, the autoinvasive CD8+ T cells in polymyositis and inclusion body myositis, but not dermatomyositis, are specifically selected and clonally expanded in situ by heretofore unknown muscle-specific autoantigens. The messenger RNA of cytokines is variably expressed, except for a persistent up-regulation of interleukin 1beta in inclusion body myositis and transforming growth factor beta in dermatomyositis. In inclusion body myositis, the interleukin 1, secreted by the chronically activated endomysial inflammatory cells, may participate in the formation of amyloid because it up-regulates beta-amyloid precursor protein (beta-APP) gene expression and beta-APP promoter and colocalizes with beta-APP within the vacuolated muscle fibers. In dermatomyositis, transforming growth factor beta is overexpressed in the perimysial connective tissue but is down-regulated after successful immunotherapy and reduction of inflammation and fibrosis. The degenerating muscle fibers express several antiapoptotic molecules, such as Bcl-2, and resist apoptosis-mediated cell death. In myositis, several of the identified molecules and adhesion receptors play a role in the process of inflammation, fibrosis, and muscle fiber loss, and could be targets for the design of semispecific therapeutic interventions.     

Early hormonal influences on cognitive functioning in congenital adrenal hyperplasia.

Administered a cognitive test battery that emphasized spatial ability, verbal fluency, and perceptual speed and accuracy to 17 females (aged 12.7–23.2 yrs) and 8 males (aged 13–29.9 yrs) with congenital adrenal hyperplasia (CAH) and 13 normal female relatives (aged 11.4–31.1 yrs) and 14 unaffected male relatives (aged 12.5–28.8 yrs). In addition, 13 fathers and 15 mothers of CAH patients participated. Ss also completed the Progressive Matrices, a vocabulary test, and an early life activities questionnaire (ELAQ). Findings indicate that CAH females, as compared with normal females, showed significantly enhanced performance on hidden pattern, card rotation, and mental rotation tests of spatial ability. On the ELAQ, CAH females, relative to normal females, showed significantly lower frequencies of participation in activities involving verbal expression and a trend toward greater participation in spatial manipulation activities. However, differences between CAH females and normal females in early childhood activities did not account for observed differences in spatial ability, given the absence of a significant correlation between the spatial manipulation activity scale and spatial ability. There was an absence of reliable differences between male CAH patients and controls across spatial tasks. Results are consistent with an effect of pre- and perinatal androgenizing hormones on the development of spatial ability. (58 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Early socioemotional predictors of cognitive competency at 4 years.

In a previous study (M. D. Lewis, 1993), infants' reunion distress at 3 mo predicted lower sensorimotor abilities at 4–5.5 mo. This follow-up study extended this prediction to overall cognitive competency at 4 yrs and examined its relation to early maternal predictors of competency. Controlling for early sensorimotor differences, 3-mo distress and anger predicted lower cognitive scores at 4 yrs, with most of the predicted variance in items tapping short-term memory. Controlling for early emotional and sensorimotor differences, 3–5 mo maternal responsiveness predicted higher competency at 4 yrs, with most of the predicted variance in items tapping perceptual performance. Infant joy did not predict later competency. Early negative emotion and maternal responsiveness were independent but equally strong predictors, suggesting different causal mechanisms or different developmental paths. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Alpha-chain disease in a non-Mediterranean climate. A case report

The clinical, biochemical, immunological and histopathological features in a patient with alpha-chain disease are described. The patient, a 20-year-old Coloured man, presented with severe steatorrhoea, malabsorption, abdominal pain and progressive general deterioration. An heterogeneous abnormal band with IgA immunochemical specificity was detected on electrophoresis of the patient's serum and urine. This protein was identified as free alpha-chain and was present in serum, urine, saliva and jejunal juice. A jejunal mucosal biopsy specimen showed distinctive appearances associated with alpha-chain disease. Bone marrow involvement was found and abnormal lymphoid cells were seen in the circulation together with an increased B lymphocyte population derived from bone marrow. This is the third South African patient with alpha-chain disease to be diagnosed. The patient has shown a partial remission after 12 months' chemotherapy. There was rapid symptomatic response and normalisation of protein parameters which were not paralleled by an objectively discernible response as assessed by haematological examination, intestinal absorption studies and histology of the jejunal mucosa.     

Thrombocytosis and coronary disease. Report of a case

We report the case of a young male with an inferior myocardial infarction who was treated with fibrinolytic agents and displayed a good evolution. The only cardiovascular risk factor that this patient had was an idiopathic thrombocytosis with abnormal platelet hyperreactivity tests. The angiogram showed an eccentric lesion of 60% in the left main coronary artery. A week later, after treatment based on anticoagulants and antithrombotic agents the angiogram was normal, and the lesion had disappeared. The association between these conditions is discussed the therapeutic approach is also discussed. A review of the literature is conducted.     

Retroperitoneal Castleman's disease. Presentation of a clinical case

Castelman disease (CD) is a rare lymphadenopathy that usually presents as a solitary, slow growing mass; its etiology is still unknown. The authors described a case of CD localized in the retro-pancreatic space. A 33-year old patient, female, underwent abdominal ultrasonography because of upper right abdominal pain. The ultrasound showed gallbladder stones and a mass of 4 cm in diameter behind the pancreatic head, modifying the shape of the inferior vena cava. The patient underwent surgical excision and histological examination showed a hyaline type of CD. In the 70% of the cases, the disease is located in the mediastinum, only in 14% of the cases in the retroperitoneal space. The case we report is a hyaline type of CD that is the most frequent histological type, constitutes 90% of the cases, occurs usually in the young population and after surgical excision has a very good prognosis. Different is the clinical behaviour of the plasma cell type of CD that has an aggressive and often fatal clinical outcome. The patient we treated is still free of any symptoms one year after the operation.     

Early psychotherapy in posttraumatic syndromes. A case study

The present study analyses one case of posttraumatic syndrome following an accident, which was apparently benign. The author studies neuropsychological investigations and improvement during psychotherapy, along with intellectual "revalidation". The emotional perturbation is accompanied by a dysfunction in mental efficiency, mostly memory. The improvement takes place both in the affective and intellectual areas. The possible hypothesis regarding the etiology of such perturbations are being reviewed. The author underlines the impact of the emotional trauma along with the subsequent perturbations in a patient already sensitised to previous accidents in her family.     

Amyloid disease and extreme macroglossia. Apropos of a case

A case of extreme macroglossia was observed in a patient with amyloid disease and dysglobulinaemia. A medial diamond-shaped glossectomy was required to reduce the size of the tongue. The details of the surgical and anaesthetic procedure are presented. This type of surgery, greatly appreciated by the patient, can only be undertaken after careful preparation. The reported cases are rare and the indication for surgery is difficult due to the unpredictable nature of the local and general clinical course of the disease.