False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

An amniocentesis was performed on a 22-week pregnancy following the detection of foetal abnormalities on ultrasound. A rapid aneuploid screen using fluorescence in situ hybridisation on uncultured amniotic fluid cells revealed 3 signals for chromosome 21, consistent with trisomy 21. In situ metaphase cultures revealed a 46,XY normal male karyotype. These discordant results may be explained by a sub-standard batch of the commercially available probe or alternatively, a very specific variation within the sample interacting with the probe. Alternative strategies are proposed in order to safeguard against inappropriate clinical action as a consequence of discordant results.     

The glycocalyx and stereociliary interconnections of the vestibular sensory epithelia of the guinea pig. A freeze-fracture,low-voltage cryo-SEM,SEM and TEM study

In this study freeze fracture, low-voltage cryo-SEM, SEM and TEM were used to characterise the glycocalyx and stereociliary interconnections in the hair cell bundle of the vestibular sensory epithelia of the guinea pig. The glycocalyx resembles a shell-like structure separately surrounding each stereocilium and kinocilium over its entire length. The lateral interciliary connections emerge from the glycocalyx layer, forming an extensive extracellular network maintaining the stereocilia as a bundle. These connections are morphologically similar to the glycocalyx, and grossly oriented in the same direction, indicative of a role in the mechanical transduction system. The matrix material around the glycocalyx also appears to be morphologically similar to the glycocalyx, suggesting the glycocalyx to be even more important in the mechanical transduction system. The tip-links are covered with a layer, which is a continuation of the glycocalyx covering the stereocilia.     

Mycobacterial infection in an inner city children's hospital

Childhood tuberculosis is perceived by many as a disease of the past. Experience in a children's hospital serving a deprived population suggested that tuberculosis and other mycobacterial infections were not declining in clinical practice. Fifty three tuberculous and 11 atypical mycobacterial infections were identified between 1978 and 1992. There was no decline in tuberculosis and nine of the 11 atypical infections occurred in the last five years. Altogether 40% of cases of tuberculosis were in non-Asian children; 32% had arrived in the UK or visited family overseas in the previous year; and 38% had a history of tuberculosis contact, usually a close adult relative. Nationally, the previous decline in tuberculosis in all ages has reversed. In the local health districts in London's east end, childhood tuberculosis has also stopped declining and seems to be increasing. It is regrettable that BCG vaccination has been abolished by some districts in the UK, against current recommendations. Childhood tuberculosis is still common in the practice described here, including among children who do not fall into conventionally recognised high risk groups. Inner city dwellers and junior doctors are both highly mobile populations, adding to the risk that paediatricians, particularly those in training, may encounter tuberculosis with little or no previous experience of the condition.     

The first report of a patient with interrupted inferior vena cava,multiple post-renal veins and azygos-hemiazygos continuation

The first case of a patient with interrupted inferior vena cava, four post-renal veins and an azygoshemiazygos continuation is presented. The complicated anomalies were omphalocele and atrial septal defect. Cine-magnetic resonance imaging and cardiac catheterization showed an anomalous retroaortic left innominate vein, azygos-hemiazygos continuation in the prerenal portion, arch formed renal vein in the renal portion and four embryonic vessels in the post-renal portion. Combination of these anomalies in the major venous system suggested that the inferior vena cava had failed to form and that the bilateral embryonic venous system, postcardinal and supracardinal veins persisted to be the systemic venous channels.     

Decreased intraperitoneal disease recurrence in epithelial ovarian cancer patients receiving intraperitoneal consolidation treatment with yttrium-90-labeled murine HMFG1 without improvement in overall survival

This study analyzes the site of disease recurrence in ovarian cancer patients to assess the influence of a single intraperitoneal (IP) administration of yttrium-90-labeled murine monoclonal antibody HMFG1 ((90)Y-muHMFG1) on the pattern of disease recurrence. In a large phase III trial ovarian cancer patients in complete clinical remission with FIGO stage Ic-IV were randomized between standard treatment plus a single IP (90)Y-labeled muHMFG1 versus standard treatment alone after negative second-look laparoscopy. Case report forms of all patients with disease recurrence were reviewed to determine site and date of recurrent disease. In total 447 patients were included in the study with a median follow-up of 3.5 years. Relapse was seen in 104/224 in the active and 98/223 in the control arm. Significantly fewer IP (p < 0.05) and more extraperitoneal (p < 0.05) relapses occurred in the active treatment arm. Time to IP recurrence was significantly longer (p = 0.0019) and time to extraperitoneal recurrence was significantly shorter for the active treatment arm (p < 0.001). The impact of IP radioimmunotherapy on IP relapse-free survival could only be seen in the subgroup of patients with residual disease after primary surgery (HR, 0.31; 95% CI, 0.18 to 0.53; p = 0.002). Although, there is no survival benefit for IP radioimmunotherapy as consolidation treatment for epithelial ovarian cancer, we found an improved control of IP disease, that was offset by increased extraperitoneal recurrences.     

Factor structure of the Mood and Anxiety Symptom Questionnaire does not generalize to an anxious/depressed sample

OBJECTIVE: The tripartite model of anxiety and depression has been proposed as a representation of the structure of anxiety and depression symptoms. The Mood and Anxiety Symptom Questionnaire (MASQ) has been put forwards as a valid measure of the tripartite model of anxiety and depression symptoms. This research set out to examine the factor structure of anxiety and depression symptoms in a clinical sample to assess the MASQ's validity for use in this population. METHOD: The present study uses confirmatory factor analytic methods to examine the psychometric properties of the MASQ in 470 outpatients with anxiety and mood disorder. RESULTS: The results showed that none of the previously reported two-factor, three-factor or five-factor models adequately fit the data, irrespective of whether items or subscales were used as the unit of analysis. CONCLUSION: It was concluded that the factor structure of the MASQ in a mixed anxiety/depression clinical sample does not support a structure consistent with the tripartite model. This suggests that researchers using the MASQ with anxious/depressed individuals should be mindful of the instrument's psychometric limitations.     

Validation of the Quality of Life Inventory for patients with anxiety and depression

BACKGROUND: In 1992, Frisch et al (Psychol Assess. 1992;4:92-101) developed the Quality of Life Inventory (QOLI) to measure the concept of quality of life (QOL) because it has long been thought to be related to both physical and emotional well-being. However, the psychometric properties of the QOLI in clinical populations are still in debate. The present study examined the factor structure of QOLI and reported its validity and reliability in a clinical sample. METHOD: Two hundred seventeen patients with anxiety and depressive disorders completed the QOLI, and additional questionnaires measuring symptoms (Zung Self-rating Depression Scale, Beck Anxiety Inventory, Fear Questionnaire, Depression Anxiety Stress Scale-Stress) and subjective well-being (Satisfaction With Life Scale) were also used. RESULTS: Exploratory factor analysis via the principal components method, with oblique rotation, revealed a 2-factor structure that accounted for 42.73% of the total variance, and a subsequent confirmatory factor analysis suggested a moderate fit of the data to this model. The 2 factors appeared to describe self-oriented QOL and externally oriented QOL. The Cronbach alpha coefficients were 0.85 for the overall QOLI score, 0.81 for the first factor, and 0.75 for the second factor. CONCLUSION: Consistent evidence was also found to support the concurrent, discriminant, predictive, and criterion-related validity of the QOLI.