FuncFetch: an LLM-assisted workflow enables mining thousands of enzyme-substrate interactions from published manuscripts.

Motivation: Thousands of genomes are publicly available, however, most genes in those genomes have poorly defined functions. This is partly due to a gap between previously published, experimentally characterized protein activities and activities deposited in databases. This activity deposition is bottlenecked by the time-consuming biocuration process.

The impact of heterozygosity for the factor V Leiden and factor II G20210A mutations on the risk of thrombosis in Greek patients.

Aim: There is growing evidence that a number of genetic risk factors predispose independently to venous thrombosis and the coexistence of defective genes is involved in the manifestation and recurrence of thrombotic events. The goal of this study was to examine the efficiency of the selection criteria for performing a genetic test for the factor V G1691A (Leiden) and factor II G20210A mutations.

Methods: Blood samples were drawn from 119 patients referred to us by their physicians.

Diffuse interstitial pulmonary disease during amiodarone treatment.

A case of diffuse interstitial pneumopathy which was observed by photonic microscopy and confirmed by electron microscopy is presented in a patient treated with amiodarone only. The iatrogenic origin of this pneumopathy appears certain as clinical and radiological signs improved after amiodarone treatment was withdrawn.

Total effective time of the forced expirogram in disease: sources of error and a correction factor.

Effective time of the forced expirogram is a sensitive index for the detection of mild airways obstruction. However, there is evidence that this measurement is not superior to maximum flow rates in the lower half of the forced vital capacity or even FEV1 and FEV1% in some patients suffering from obstructive lung disease. Furthermore we noticed that in some patients with a decrease of the forced vital capacity caused by exacerbation of airways obstruction, the effective time was not appreciably changed.

Pattern of diaphragmatic activity during forced expiratory vital capacity.

We measured transdiaphragmatic pressure (Pdi) during forced expiratory vital capacity (FVC) maneuvers in 13 normal subjects and electromyographic activity of the diaphragm (edi) in 8 of these subjects. In all subjects, Pdi increased at the initiation of the FVC. In most, this increase lasted 30--50 ms and reached levels well above the Pdi observed at total lung capacity (TLC).

Chest wall shape during forced expiratory maneuvers.

Abdominothoracic shape during the forced vital capacity was studied in 10 normal subjects using magnetometers to monitor anteroposterior diameters at the level of the manubrium, xiphoid, and epigastrium, lateral rib cage diameter at the xiphoid level, and vertical motion of the rib cage. Thoracic cross-sectional area change at the xiphoid level was found to lag lung volume change, due to an early paradoxical increase (or lack of change), of lower anteroposterior rib cage diameter. To the extent that the resulting rib cage deformation can influence the pleural pressure gradient, the observed shape changes provide a potential mechanism for early preferential emptying of the upper lobes and later more homogeneous emptying in forced, compared to slow, vital capacity maneuvers.

Time dependence of maximum flow as an index of nonuniform emptying.

Nonhomogeneous lungs are predicted to exhibit time dependence of maximal expiratory flow (Vmax): faster regions would contribute more flow early in the expiration, whatever the initial volume, resulting in different Vmax at a given total lung volume, depending on how long flow limitation has been operating. To test this concept a new technique was developed that permits accurate superimposition of Vmax data over small volume intervals. When quick-release interrupted partial curves with similar volume history but different volume of initiation were compared over their late common-volume segments, the volume-history effects could be differentiated from time dependence of the Vmax.

Maximum expiratory flow changes induced by longitudinal tension on trachea in normal subjects.

Maximal expiratory flow (Vmax) was noticed to increase in some subjects during neck hypertension. Maximal expiratory flow volume (MEFV) curves were obtained in 15 normal young subjects at regular and hyperextended neck posture. Eleven of the subjects had consistently higher Vmax during neck hyperextension at high lung volumes, accompanied by MEFV configuration changes in the form of the obliteration of a concavity towards the volume axis that existed in the curve at regular neck posture.