Familial lupus anticoagulants

Three families having more than one affected member with SLE or lupus-like disease were investigated by global coagulation tests as well as methods based on dilute thromboplastin, Russell's viper venom and thermal stability/absorption, and by RIA for anticardiolipin (CL) antibodies. Of the 19 persons, 11 had SLE or lupus-like disease. Eight of these 11 had a prolonged KPTT and other evidence of LA, while only 5/11 had high anticardiolipin titres. Four healthy spouses of affected females, and three asymptomatic siblings also had prolonged non-correctable KPTTs. These persons had no bleeding or thrombotic history and normal clotting factor levels. Further clotting tests were negative, although one had raised anti-CL antibody. Such cases may account for some of the patients one finds during routine haemostatic screening with unexplained prolonged KPTT. Although anticardiolipin levels are raised in subjects with LA, there was no close correlation between length of KPTT and anticardiolipin titre. These findings would support a hypothesis of transmissible agents or other environmental factors being involved in lupus-like disorders.     

Antithrombin III in systemic lupus erythematosus

Plasma antithrombin III (AT III) was studied in 39 patients with systemic lupus erythematosus (SLE) and in 12 patients with other connective tissue disorders. AT III was measured immunologically by the Mancini method as well as by functional assay using thrombin and the chromogenic substrate, chromozyn TH (Boehringer). Reduced AT III activity was found in 17 patients; 8 had thrombosis. In 6 patients low AT III correlated with disease exacerbations and 2 had systemic vasculitis. No significant correlation could be demonstrated between low AT III levels and thromboembolic disease. A marked variation of functional AT III activity was observed in 30 patients in whom the presence of the lupus anticoagulant was demonstrated. The significance of this association is discussed.     

Initial experiences with RoSS surgical simulator in residency training: a validity and model analysis

Robotic surgery is an important new tool in many surgical procedures, and training curriculums must adapt to this new technology. Robotic surgical simulators have been developed as a means of providing training without the inherent risks of actual surgery. The purpose of this study is to evaluate the construct validity of the RoSS surgical simulator by correlating simulator performance with amount of time in training and to create a performance model in which time in training is a parameter. A total of eight residents with varying amounts of training were given access to the RoSS surgical simulator and were evaluated on performance of a simulated surgical task. This data was then used to create Akaike information criteria to compare goodness of fit. Participants were also given a questionnaire as to their experience with the simulator and their feelings about the use of simulators in training. Training time and performance within the simulator were shown to have a linear relationship. Correlations were high, with R ² values of 0.95, 0.94, and 0.86 for each of the three performance metrics. Likelihood ratios were similarly high at 4.25 × 10⁹, 10,950, and 362. Participant opinion showed that residents feel that robotic training is an important part of their education and that the simulator is an effective supplement. The RoSS surgical simulator accurately corresponds to training level and is a valid evaluation tool of training experience. These findings are encouraging for the use of robotic simulators in surgical training.     

Primary epithelial-myoepithelial carcinoma of the pituitary gland

Primary salivary gland-like tumors of the sella are rare and often challenging to diagnose. They reportedly derive from serous and mucinous glands that remain trapped in the infundibulum during embryogenesis. We report a 68-year-old man who presented with partial left third cranial nerve palsy, visual loss in the left eye without visual field defects, headache, weight loss and reduced muscle bulk. Neuroimaging studies demonstrated a solid and cystic, avidly enhancing lesion expanding the pituitary fossa and extending to the left cavernous sinus. The patient underwent craniotomy and the tissue removed showed features of epithelial-myoepithelial carcinoma similar to the salivary gland, skin and breast counterpart. No primary tumor was found outside the sella. The lesion behaved aggressively despite radio-chemotherapy and the patient died 22 months from the onset. The tumor showed a novel TP53 in-frame deletion (Gly154del) while no variants were found in H-RAS hotspot regions (codons 12, 13 and 61). Our report expands the spectrum of salivary gland-like tumors primarily occurring in the sella and emphasizes the need for specialist review of rare, non-neuroendocrine tumors of the pituitary and sella regions.     

Neonatal screening for congenital hypothyroidism in a developing country: problems and strategies

Neonatal screening in India poses more organisational and socio-economic rather than medical challenges. Based on the pilot study of 450 cord sera, the plan for screening considered cord TSH<30 μU/ml as normal, 30 to 80 as borderline with recall by letters and >80 as indicative of hypothyroid state, with recall by home visits. Of the 17,240 live births only 12,407 cord sera were collected. Envisaging follow-up difficulties, T₄ was assayed in cord sera when TSH was>30 μ U/ml. 2·81% (350) babies needed recall. Only 30% of 302 (2·43%) babies with cord TSG 30 to 80 responded, to recall letters and were normal; availability of both cord TSH and T₄ helped in excluding hypothyroidism in majority of non-respondents. Forty-eight (0·38%) newborns had TSH>90 μU/ml; 80% of this group and 100% with TSH> 100 μU/ml were traced by home visits. Hypothyroidism was confirmed in 5/48, biochemically and by thyroid scan. All five hypothyroids had cord TSH>300 μU/ml. The incidence in this nonendemic region of India was 1∶2481. Thus false elevation of cord TSH 30 to 300 μU/ml was noted in 0·34% with a chance of detecting a hypothyroid 1 in 10 when TSH>80 μU/ml. Screening strategies in a developing country must ensure meticulous clerical assistance, co-operation and education of nurses and parents, precise and cost effective technics and facilities for continued surveilance of detected hypothyroids.