Autism in fragile X females

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.     

The Four-Dimensional Symptom Questionnaire (4DSQ): a validation study of a multidimensional self-report questionnaire to assess distress, depression, anxiety and somatization

Background

The Four-Dimensional Symptom Questionnaire (4DSQ) is a self-report questionnaire that has been developed in primary care to distinguish non-specific general distress from depression, anxiety and somatization. The purpose of this paper is to evaluate its criterion and construct validity.

Methods

Data from 10 different primary care studies have been used. Criterion validity was assessed by comparing the 4DSQ scores with clinical diagnoses, the GPs' diagnosis of any psychosocial problem for Distress, standardised psychiatric diagnoses for Depression and Anxiety, and GPs' suspicion of somatization for Somatization. ROC analyses and logistic regression analyses were used to examine the associations. Construct validity was evaluated by investigating the inter-correlations between the scales, the factorial structure, the associations with other symptom questionnaires, and the associations with stress, personality and social functioning. The factorial structure of the 4DSQ was assessed through confirmatory factor analysis (CFA). The associations with other questionnaires were assessed with Pearson correlations and regression analyses.

Results

Regarding criterion validity, the Distress scale was associated with any psychosocial diagnosis (area under the ROC curve [AUC] 0.79), the Depression scale was associated with major depression (AUC = 0.83), the Anxiety scale was associated with anxiety disorder (AUC = 0.66), and the Somatization scale was associated with the GPs' suspicion of somatization (AUC = 0.65). Regarding the construct validity, the 4DSQ scales appeared to have considerable inter-correlations (r = 0.35-0.71). However, 30–40% of the variance of each scale was unique for that scale. CFA confirmed the 4-factor structure with a comparative fit index (CFI) of 0.92. The 4DSQ scales correlated with most other questionnaires measuring corresponding constructs. However, the 4DSQ Distress scale appeared to correlate with some other depression scales more than the 4DSQ Depression scale. Measures of stress (i.e. life events, psychosocial problems, and work stress) were mainly associated with Distress, while Distress, in turn, was mainly associated with psychosocial dysfunctioning, including sick leave.

Conclusion

The 4DSQ seems to be a valid self-report questionnaire to measure distress, depression, anxiety and somatization in primary care patients. The 4DSQ Distress scale appears to measure the most general, most common, expression of psychological problems.     

Binding characteristics of anti-Rh0(D) antibodies to Rh0(D)-positive and Du red cells

The relation of human erythrocyte Rh0(D) to Du sites is an important unresolved question in the field of immunohematology. To compare the immunological reactivity of Rh0(D)-positive and Du erythrocytes, the binding characteristics of two anti-Rh0(D) antisera to human Rh0(D)- positive and Du ("low-grade") erythrocytes were studied. 14C-Protein A and direct antibody-labeled techniques were used to generate binding curves and to derive double-reciprocal plots. The results show that the number of antigen sites differ by a factor of 10 to 15 between the Rh0(D)-positive and Du red cells, but that the dissociation constants between anti-Rh0(D) and the Rh0(D) and Du antigens are indistinguishable when studied by the two labeling methods and two different anti-Rh0(D) antibodies. The extent of binding to 112 different Du samples showed a normal distribution and was independent of apparent phenotype. These data suggest immunologic identity of Rh0(D) and Du ("low-grade") sites and that the difference between the antigens of Rh0(D) and Du cells is quantitative only. The data are incompatible with the "missing mosaic" and gene interaction theories of mechanism.     

Prevention of adhesions to polypropylene mesh

BACKGROUND: Polypropylene mesh used to repair abdominal wall hernias routinely induces dense adhesions if there is direct contact between the mesh and the viscera. Adhesions may lead later to difficult reoperation, intestinal obstruction, or enteric fistula. STUDY DESIGN: A 2.5-cm square defect was surgically created in the rat abdominal wall and replaced with: 1) polypropylene mesh, 2) Sepramesh (SM), or 3) SM plus Seprafilm. Each group included 20 animals. Adhesion area as a percent of the mesh surface was subjectively quantitated by means of laparoscopy and at sacrifice. Evaluations varied from 7 to 28 days after mesh placement. Tissues were harvested at intervals for scanning electron microscopy. RESULTS: Adhesions were complete by day 7, with no change in area thereafter. Adhesion-free mesh surfaces were found on scanning electron microscopy to be carpeted with mesothelial cells from day 5 on. Polypropylene mesh alone induced adhesions in all rats (20/20). The mean area involved was 92%. With SM, 9 of 20 were adhesion-free. The mean area was 15%. When Seprafilm was added to SM, minimal adhesions developed in 5 of 20 rats, the mean area being 2%. Four of the five were single point omental attachments. CONCLUSIONS: 1) Sepramesh alone reduces polypropylene mesh adhesions by roughly three-quarters. 2) Sepramesh plus Seprafilm nearly eliminates such visceral adhesions. 3) Mesothelial cell coverage of polypropylene mesh confers adhesion resistance.     

Parotid masses: MR imaging

Over a 2-year period 20 patients who presented with masses in the parotid gland were evaluated with magnetic resonance (MR) imaging. T1-weighted images were obtained on a high-resolution, thin-section MR imaging system. When "cystic-appearing" lesions were found, T2-weighted images were obtained in order to better characterize the tumor. As in other areas of the body, MR images of parotid tumors are not usually histologically specific. MR findings may be distinctive in rare cases and define the internal architecture of complex parotid masses. Although poor tumor margination was a clue to malignancy, this was not a consistent finding. The real advantage of MR imaging in evaluating parotid masses was its ability to accurately reveal the extraparotid or intraparotid location of a tumor and demonstrate the relationship of the tumor to the facial nerve. Small and medium-sized mass lesions could be seen as superficial or deep to the facial nerve. Larger masses producing some distortion of the normal course of the nerve made identification of the nerve more difficult, if not impossible. In malignant tumors with gross invasion of the facial canal, MR images can show the extent of nerve involvement.     

Prevalence and clinical relevance of the morphological substrate of ventricular arrhythmias in patients without known cardiac conditions detected by cardiovascular MR

Objective

Cardiac MR (CMR) identifies the substrate of ventricular arrhythmia (VA) in cardiomyopathies and coronary heart disease. However, little is known about the value of CMR in patients with VA without previously known cardiac disorders.

Methods

76 patients with VA (Lown ≥2) without known cardiac disease after regular diagnostic work-up were studied with CMR, and findings were correlated with electrocardiogram (ECG) and electrophysiological stimulation (EPS). Structural abnormalities matching the VA origin as defined by ECG and/or EPS, or a CMR-detected cardiac condition known to cause arrhythmia were defined as VA substrate. CMR findings were defined as clinically relevant, if resulting in a new diagnosis, change of treatment or additional diagnostic procedure.

Results

44/76 patients demonstrated pathological CMR findings. In 24/76 patients, the pathology was detected by CMR and not by echocardiography. CMR-based diagnoses of cardiac disease were established in 20/76 patients, and all were morphological substrates for VA. In seven patients, the location of the CMR finding (scar) directly matched the VA origin. CMR findings resulted in a change of treatment in 21 patients and/or additional diagnostics in 8 patients.

Conclusion

Undetected cardiac conditions are frequent causes of VA. This is the first study demonstrating the value of CMR for detection of morphological substrate and/or underlying cardiac disorders in VA patients without known cardiac disease.

Advances in knowledge

The high incidence of clinically relevant CMR findings which were not detected during initial diagnostic work-up strongly supports the use of CMR to screen VA patients for underlying heart disease.Although the value of cardiac MR (CMR) for the diagnosis of cardiac diseases such as myocarditis is undisputed, CMR is also predictive of patients at high risk for ventricular arrhythmias (VAs) with conditions such as hypertrophic cardiomyopathy (HCM) and coronary heart disease (CHD).^1–3 Recent studies have demonstrated the ability of CMR to identify the anatomical correlate of VA in those patients. This anatomical correlate has been characterized by CMR as a structural abnormality (e.g. fibrosis or peri-infarct region), which may go undetected using other non-invasive imaging modalities.^4,5 A number of studies have been undertaken, or are ongoing, to further elucidate the added value of CMR in patients with known cardiac conditions, to improve risk stratification for VA and to optimize therapy.^1,6–8 However, little is known to date regarding the added value of CMR for detection of an arrhythmogenic substrate or underlying cardiac condition in patients who present with VAs without known cardiac disease.Thus, the purpose of this study was to investigate the added value of CMR in patients with VAs for detection of underlying heart disease and an arrhythmogenic morphological substrate, and also to investigate the clinical relevance of CMR in those patients with positive findings.     

Developmental implications of changing trajectories of IQ in males with fragile X syndrome

This study examined the trajectories of cognitive development in boys under the age of 21 years with fragile X syndrome. By combining information from three centers, data from 66 boys were analyzed; only children who had been tested two or more times with the same psychometric instrument at one or more year intervals were included in this study. Results demonstrated that males with fragile X syndrome show a decline in IQ scores, with the most marked declines seen during the early pubertal period. All 22 children retested during the 11- to 15-year period showed IQ declines, suggesting a slowing of development associated with the onset of puberty. Before age 10 years, males with higher (as opposed to lower) pretest IQs were more likely to decline at subsequent testings. A single etiological factor may not be sufficient to account for the observed findings, as both changes in neurobiological- and task-related factors seem implicated in the slowing intellectual development of this population.