Computerized family practitioner committee records — a data base for general practitioners

In the primary care environment the role of preventive medicine is assuming increasing importance and general practitioners need accurate and up-to-date information about their practice population. Computerization of family practitioner committee registers should provide a readily accessible data base from which data about groups of patients within the practice area can easily be extracted. This paper describes a study carried out in Northumberland, which set out to establish the type of information which would be of interest to general practitioners and how it could be produced.

It was found that a data base holding only registration data was of limited value to general practitioners, although useful for identifying target groups for screening programmes and showing demographic trends within the practice. The doctors felt that the inclusion of medical data would make the register a far more effective resource.

     

Patterns of coordinated multi-joint movement

In multi-joint reaching movements, the motor system may choose any one of an infinite set of possible joint rotations to move the hand between given start and target positions. In order to find out whether reaching movements are represented in Cartesian hand coordinates or in joint coordinates, it is necessary to measure whether hand paths or joint paths have lower variability. We have measured hand paths and rotations of shoulder, elbow and wrist joints simultaneously in five subjects reaching in four orientations in the horizontal plane. As in earlier studies, we found a preference for nearly straight hand paths, despite different patterns of joint rotation for different orientations of movement. However, movements in three of four orientations showed a single principal joint, which rotated essentially without reversals. This may reflect optimisation in the motor system, preferring the simplest pattern of joint control for a desired hand path. We used generalised Procrustes analysis to quantify the variability in shape of repeated paths in hand space and joint space. Results showed that hand paths were less variable than the joint angles used to realise them, due to the kinematic redundancy of the limb, suggesting that hand paths, rather than joint angles, are directly represented by the motor system. Nevertheless, movements with straighter hand paths, on average, and those requiring coordinated activity at both shoulder and elbow joints also showed more variability in the shape of the hand path. Other orientations such as movement across the body use primarily a single joint and are less variable at the cost of a slightly curved path. These results suggest that coordinating multiple joints to produce a straight hand path has a definite computational cost. The motor system may perform a trade-off between the benefits of planning reaching movements as straight hand paths and the computational simplicity of executing them using patterns of joint rotation which simplify multi-joint coordination.     

The Yale algorithm. Special workshop--clinical

The assessment of causality in drug-event associations depends on the setting and purpose of such an assessment. Epidemiologists are primarily interested in population-based inferences about whether a given drug can cause a certain adverse drug reaction (ADR), and if so, how often it does so. Pharmaceutical industries and regulatory agencies are also concerned with population-based risks, but in addition must worry about individual cases. Clinicians are primarily interested in the individual, ie, whether a given drug did cause a certain adverse event in a particular patient. The authors describe an algorithm that provides specific, detailed criteria for ranking the probability that an observed untoward clinical manifestation was caused by a given drug. The criteria are subdivided into six axes of decision strategy with a built-in scoring system that ordinally ranks the probability of an adverse drug reaction as definite, probable, possible, or unlikely. To illustrate the use of the algorithm, the authors assess a reference case of pancreatitis occurring after administration of methyldopa.     

Assessing the construct validity of the Quality-of-Life-Aged Care Consumers (QOL-ACC): an aged care-specific quality-of-life measure

Quality of Life Research - To evaluate the construct (convergent and known group) validity of the Quality-of-Life-Aged Care Consumer (QOL-ACC), an older-person-specific quality-of-life measure...     

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy, we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1^asj/asj mice on an acceleration diet containing high phosphate treated with recombinant murine Enpp1-Fc. ARHR2 patients treated with conventional therapy demonstrated improvements in rickets, but all adults and one adolescent analyzed continued to exhibit low bone mineral density (BMD). In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated patients. Similar to Enpp1^asj/asj mice on normal chow and to patients with mono- and biallelic ENPP1 mutations, 5-week-old Enpp1^asj/asj mice on the high-phosphate diet exhibited lower trabecular bone mass, reduced cortical bone mass, and greater bone fragility. Treating the Enpp1^asj/asj mice with recombinant Enpp1-Fc protein between weeks 2 and 5 normalized trabecular bone mass, normalized or improved bone biomechanical properties, and prevented the development of nephrocalcinosis and renal failure. The data suggest that conventional ARHR2 therapy does not address low BMD inherent in ENPP1 deficiency, and that ENPP1 enzyme replacement may be effective for correcting low bone mass in ARHR2 patients without increasing the risk of nephrocalcinosis. © 2021 American Society for Bone and Mineral Research (ASBMR).     

Lambert-Eaton myaesthenic syndrome: a possible association with Hodgkin's lymphoma

Lambert-Eaton myasthenic syndrome is a presynaptic neuromuscular junction disorder typically associated with small cell lung carcinoma. The characterstic electrophysiological abnormality is a low amplitude compound muscle action potential that shows a marked increment after maximal voluntary contraction or brief tetanic nerve stimulation. We describe a patient who had LEMS in association with Hodgkin's disease. A 61 year old woman presented with proximal muscle weakness 6 years following successful treatment of Hodgkin's disease. Her symptoms responded well to treatment with diaminopyridine. 9 additional patients have been described with LEMS in association with lymphoproliferative diseases. A systemic malignancy is usually found within 2 years of LEMS diagnosis but may present later. LEMS should be considered in patients with Hodgkin's disease presenting with muscle weakness.     

Osteosarcomatosis

A review of the 690 cases of osteosarcoma in the radiographic file of the Armed Forces Institute of Pathology revealed 29 cases of "osteosarcomatosis" (multiple skeletal sites of osteosarcoma). Fifteen of these patients were 18 years old and under and manifested rapidly appearing, usually symmetric, sclerotic metaphyseal lesions. The remaining 14 patients were more than 18 years old and had fewer, asymmetric sclerotic lesions. In most patients (28 of 29), a radiographically dominant skeletal tumor was seen. Pulmonary metastases occurred in the majority of patients and were detected at the same time as the bone lesions. These 29 patients were studied with regard to demographic data and skeletal distribution and radiographic appearance of their lesions. As a result of the findings, a metastatic origin from a primary dominant osteosarcoma is favored over a multifocal origin as the basis for osteosarcomatosis. Osteosarcomatosis is more commonly encountered in the mature skeleton than has been previously recognized.