Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion

Hereditary elliptocytosis (HE) is a heterogeneous disorder of red blood cells frequently associated with abnormal limited tryptic digestion of the alpha I domain of spectrin and impaired spectrin dimer self- association. We studied two related individuals with poikilocytic hereditary elliptocytosis (HE) of different severity. Limited tryptic digestion of spectrin from these individuals showed the presence of a variant alpha I/50b Kd peptide at the expense of the normal alpha I/80 Kd peptide. Amino acid sequence analysis of the abnormal peptide showed that the proteolytic cleavage occurred after the arginine at position 470 of the alpha spectrin chain. Spectrin from these patients had an impaired ability to undergo self-association, as evidenced by increased amounts of spectrin dimers in 4 degrees C extracts of erythrocyte membrane from affected individuals. The polymerase chain reaction was used to study the DNA sequence of the alpha spectrin gene encoding the region of the alpha spectrin chain surrounding the abnormal proteolytic cleavage site. We detected the in-frame deletion of the trinucleotide CAT, encoding histidine 469, two amino acid residues to the N-terminal side of the abnormal proteolytic cleavage site between residues 470 and 471. Similar to many other defects of spectrin associated with HE, this deletion occurs in helix three of repeat 5 of the proposed triple helical model of spectrin repeats.     

Increased infant mortality in Jersey City

The infant mortality rate for 1982 in Jersey City, a medium-sized urban community, was found to have increased sharply from that for 1981. An investigation by health officials revealed that the increase occurred only among infants delivered to Jersey City residents at a large local municipal hospital. An increase in the incidence of newborns with birth weights of 501-1,000 grams (g) and a decrease in their survival rate accounted for much of the increase. Although local increases in infant mortality are reported in the lay press, the articles usually lack any meaningful analyses. Furthermore, investigations of such increases have not been described in the medical literature. This report describes the investigation of the rise in infant mortality for Jersey City, demonstrates how local officials can approach the problem, and indicates how essential the availability of linked birth and infant death records are to the effort.     

INDIVIDUALISATION OF HIV THERAPY: THE CLINICIAN'S PERSPECTIVE

SUMMARY Assessment of clinical and laboratory markers of HIV infection may be used to individualise antiretroviral therapy. Data suggest that measures of viral load may be of considerable value as both a baseline and dynamic therapy marker, making these tools particularly useful in driving therapeutic decisions. Similarly, in-vitro data regarding intracellular pharmacokinetics and activity, resistance patterns and potential synergy of antiretroviral agents may be used to guide selection of optimal treatment regimens in clinical practice.     

Xeromammographic automatic exposure termination

A method of automatic exposure termination (AET) for xeromammography has been devised, significantly reducing the rate of repeat exposures due to poor choice of manual exposure factors. AET images are of good quality and are reliably produced. The concept of AET is based on the existence of an optimal transmitted exposure to the selenium plate, which is easily determined experimentally. In routine clinical xeromammography, a repeat rate of 20% was eliminated by the use of AET.     

Transesophageal Atrial Pacing in Anesthetized Patients with Coronary Artery Disease: Hemodynamic Benefits Versus Risk of Myocardial Ischemia

Background: Transesophageal atrial pacing (TEAP) provides prompt and precise control of heart rate and improves hemodynamics in anesthetized patients with bradycardia and hypotension. The authors' purpose in this study was to examine the hemodynamic benefits of TEAP versus the risk of myocardial ischemia in patients about to undergo coronary artery bypass surgery.

Methods: Hemodynamics, ventricular filling pressures, mixed venous oxygen saturation, and end-diastolic, end-systolic, and fractional area change of the left ventricle, determined by transesophageal echocardiography (TEE), were measured after anesthesia induction with 30 micro gram/kg fentanyl and at incremental TEAP rates of 65, 70, 80, and 90 beats/min (bpm) in 40 adult patients. Monitoring for myocardial ischemia was accomplished with 12-lead electrocardiograms and biplane TEE assessment of left ventricular regional wall motion. Hemodynamics, electrocardiograms, and TEE measurements at each TEAP rate were compared with baseline awake measurements (except TEE) and with measurements obtained after anesthesia induction before TEAP.

Results: Sinus bradycardia occurred in 15 patients after anesthesia induction and was associated with a hypotensive response and a decrease in cardiac output in 10 patients. In these patients, TEAP restored diastolic blood pressure and cardiac output to baseline values at TEAP rates of 65 and 80 bpm, respectively. Stroke volume was similar to baseline measurements after anesthesia induction and at TEAP rates of 65, 70, and 80 bpm, but was significantly reduced from baseline at TEAP 90 bpm. Myocardial ischemia was detected in 7 and 5 patients at a TEAP rate of 80 and 90 bpm, respectively.