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.     

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.     

Beitrag zur Symptomatologie und Pathophysiologie der tonischen Anfälle vom Typus der „Tetanus-like-seizures“ Jacksons

Zusammenfassung Auf Grund der klinischen Analyse von zwei Beobachtungen an Hirntumoren, bei welchen die Region des Mittelhirns unter Druckwirkung stand, gelangten wir zu der Auffassung, da\ die Tetanus-like-seizures in unmittelbare Parallele zum Bilde der tierischen Enthirnungsstarre zu bringen sind. Eine Abweichung von diesem Bilde besteht jedoch einmal nach der Richtung, da\ an diesem Anfalle die Beuger und die Strecker teilnehmen und weiterhin darin, da\ an den oberen Extremitäten das eine Mal eine Beuge-, das andere Mal eine Streckstellung auftreten kann. Für das Auftreten der Beugestellung wird eine Erklärung in dem Funktionswandel gesucht, den die oberen Extremitäten mit dem übergang vom Vierfü\erzum aufrechten Gang unter gleichzeitiger änderung der zentralen Dynamik erfahren haben.     

The relationship between glycogen content of leg muscles and working capacity in patients with intermittent claudication.

The relationship between the glycogen content of the vastus lateralis muscle and the working duration was determined in 6 patients with intermittent claudication. The working duration was determined on a bicycle ergometer at a load of 450 kpm/min. Muscle glycogen was determined in percutaneous needle biopsy specimens. The resting glycogen content in the vastus muscle increased significantly after depletion of the stores by physical exercise followed by glucose feeding for 2 days. This increase was associated with an increased working duration. This improvement of the working duration connected with high muscle glycogen content was a temporary phenomenon. When the duration was measured shortly after exercise, i.e. after depletion of the glycogen stores it was reduced to the preexperimental level. The improved working duration associated with increased glycogen content of leg muscles did not seem to be related to the improved walking capacity in claudication patients after physical conditioning.     

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.