A bi-allelic VNTR in the human TNFR2 (p75) gene promoter

We describe a bi-allelic VNTR polymorphism within a 42 bp region in the promoter of the tumour necrosis factor receptor 2 gene (TNFR2). Within this region there are one (Allele 1) or two (Allele 2) repeats of a 15 bp sequence, 5'-GCCGGGC AGGTGGAG-3'. Allele frequencies observed in a Caucasian population were 0.3 (Allele 1) and 0.7 (Allele 2).     

Cytokine gene polymorphism in human disease: on-line databases

The pathologies of many infectious, autoimmune and malignant diseases are influenced by the profiles of cytokine production in pro-inflammatory (TH1) and anti-inflammatory (TH2) T cells. Interindividual differences in cytokine profiles appear to be due, at least in part, to allelic polymorphism within regulatory regions of cytokine gene. Many studies have examined the relationship between cytokine gene polymorphism, cytokine gene expression in vitro, and the susceptibility to and clinical severity of diseases. A review of the findings of these studies is presented. An on-line version featuring appropriate updates is accessible from the World Wide Web site, http://www.pam.bris.ac.uk/services/GAI/cytokine4.htm.     

Effect of control of blood glucose on urinary excretion of albumin and beta2 microglobulin in insulin-dependent diabetes.

To study the effects of improved control of blood glucose on markers of renal glomerular and tubular function, we initially determined, by radioimmunoassay technics, urinary excretion rates of albumin and beta2 microglobulin in 17 nondiabetic subjects and in 43 insulin-dependent, clinically nonproteinuric diabetic patients. Duration of diabetes ranged from six months to 39 years, and the patients were studied while receiving conventional therapy. Mean urinary albumin excretion was significantly elevated in the diabetics, but beta2-microglobulin excretion rates were not different from those of the controls, suggesting that the increased albumin excretion was due to increased transglomerular loss of albumin. Seven patients with long-term diabetes (duration of six to 33 years), selected because of elevated albumin excretion, were studied before and during a continuous, subcutaneous insulin infusion for a period of one to three days. Urinary albumin excretion was significantly reduced during the insulin infusion, but mean beta2-microglobulin excretion did not change. Strict control of blood glucose, even in the short term, may reverse a functional renal abnormality in long-duration, insulin-dependent diabetes.     

An Attempt to Elk it Cardiac Orienting and Defense Responses in the Newborn to Two Types of Facial Stimulation

Cardiac and behavioral reactivity of the human newborn to facial stimulation eliciting approach and escape responses were compared in order to test the distinction between cardiac orienting and defensive reactions. Each infant received 8 trials each of check stimulation (stroking near the mouth) and ear stimulation (pinch on the ear lobe). HR response to both tactile stimuli were accelerations of different amplitude when motor responses were also present. When no overt behavioral response was observed, stroking on the check elicited cardiac deceleration while ear stimulation again elicited acceleration. Thus, cardiac orienting was demonstrated in newborns when a rooting stimulus was presented that did not elicit overt head turning. The HR response to ear stimulation on trials unaccompanied by observed movements was a larger acceleration than to cheek stimulation when movement was present. This finding suggests that movement itself does not produce the observed HR increase, but rather that central processing of the signal value of the stimulus determines both overt and cardiac responding.     

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.     

Immediate reversible rehabilitation of the paralyzed eyelid

Skull base surgeons are frequently required to operate in close proximity to the facial nerve. At times, a skull base tumor is resected with the facial nerve grossly infact, only to have the patient awaken with a unilateral facial paresis or paralysis. In the selected cases where the surgeon is certain that the facial nerve has been left intact and return of function is expected, methods are needed to ameliorate the temporary paresis or paralysis of the eyelids. In our institution, eyelid closure has been achieved by placement of a gold weight in the upper eyelid. These weights were placed with the knowledge that they could be removed once facial nerve function returned. We report on 11 such patients who had gold weights placed within 3 weeks of their original intracranial or skull base procedure. All patients were discharged with adequate eyelid closure. Three patients later required lower lid surgery for poor tone or persistence of paralysis. Our experience is reviewed and our recommendations concerning the management of temporary facial paralysis of the eyelids is presented.     

Nutrient intake, adiposity, and diabetes.

To study the role of nutritional factors in the genesis of diabetes, estimations of blood sugar concentration, food intake, and adiposity (as body mass index; BMI) were carried out on three normal population samples--namely, 961 employees of Beecham Ltd, 1005 employees of the Greater London Council, and 1488 middle-aged male civil servants (Whitehall study). Blood sugar concentrations and indices of glucose tolerance correlated positively with the degree of adiposity but tended to be negatively correlated with total food energy intake and its component nutrients (total carbohydrate, sucrose, and fat). This inverse trend was largely accounted for by highly significant inverse correlations between food energy intake and adiposity, a relation found in both sexes and in all three population samples and which extended across the whole range of nutrient intake and BMI. These findings suggest that greater degrees of adiposity are associated with lower than average food energy intakes and hence lower total energy expenditures. The association of increased adiposity with low food energy consumption may indicate an underlying "low energy throughput" state, and it may be the mechanisms of this, as well as the obesity, that are responsible for disease.     

Evaluation of neurodevelopmental outcome in highrisk infants in Australia

An understanding of the neurodevelopmental outcome of long-term survivors of neonatal intensive care is essential for the informed management of preterm or high risk infants. This annotation looks at the current status of neonatal follow-up services in Australasia and highlights problems in the collection and interpretation of data. It suggests that we should work towards achieving a consensus on standard definitions and test regimes and on national data collection.