Feasibility of health-related quality of life (HRQoL) assessment for cancer patients using electronic patient-reported outcome (ePRO) in daily clinical practice

Quality of Life Research - Routine Electronic Monitoring of Health-Related Quality of Life (HRQoL) (REMOQOL) in clinical care with real-time feedback to physicians could help to enhance...     

A denaturated venous homograft as an alternative material for shunts and other reconstructions in congenital cardiac surgery

A human venous homograft "Varivas R", in clinical use for 10 years for vascular access loops and femoropopliteal bypasses, has been used since December 1985 as a material for aortopulmonary shunts and other reconstructive procedures in congenital heart surgery. For this purpose vein segments 5 cm length, varying in diameter from 4 up to 10 mm by steps of 1 mm, were obtained. Our experience with Varivas is limited to 59 patients. Of 47 infants, 18 received a left, and 25 a right sided aortopulmonary shunt, 9 had bilateral aortopulmonary shunts, 2 right ventricle pulmonary conduits, 1 a pulmonary-pulmonary conduit, 3 interrupted aortic arch reconstructions and 4 a central aortopulmonary shunt, 1 with confluence reconstruction, 3 recidives of coarctation a patch repair. Among 11 adults 6 received coronary bypass and 6 others vascular reconstructions. In contrast to other artificial graft materials, the vein material offers easy manipulation similar to the daily routine of handling fresh vein material offers easy manipulation similar to the daily routine of handling fresh vein grafts in coronary surgery. The appropriate diameter sizes match better the infants anatomy, without the risk of kinking and/or anastomosis displacement. Peroperatively it was possible to confirm patency by electromagnetic flow measurement and the postoperative examinations were done by colour Doppler echocardiography. We had to reoperate upon 4 infants because of early thrombosis; on 1 infant for stenosis of the graft and on another 5 for late thrombosis. In an attempt to extend the indications for "inoperable" pulmonary hypoplasia/atresia we were not able to keep the shunt open in 4 infants.     

Nocturnal asthma,histamine and vagal activity

In a study of two groups of nine allergic asthmatic children, consisting of one group with (group I) and one group without (group II) increased nocturnal airflow obstruction, we determined whether an increase in vagal activity, or inflammatory mediators like histamine are responsible for the nocturnal increase in airflow obstruction. The results of investigations in the two groups of asthmatics were compared to the results of an age matched control group. Forced expiratory volume in one second (FEV₁) and electrocardiogram recordings of one minute were obtained every 4 hours during 24 hours. Heart rate and sinus arrhythmia gap were used to express vagal activity indirectly. N-methylhistamine was determined in urine samples collected in periods of 4 hours between the measurements. In group I, overall N-methylhistamine excretion was on a higher level than in both other groups, and was significantly higher overnight. Parasympathetic stimulation did not seem of importance to the increase of airflow obstruction at night.This study was supported by a grant from the Nederlands Astma Fonds.     

Triplications of chromosome 1p36.3, including the genes GABRD and SKI,are associated with a developmental disorder and a facial gestalt

Triplication of chromosomal region 1p36.3 is a rare genomic rearrangement. In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome is associated with a distinct phenotype, characterized by global developmental delay, moderate intellectual disability, seizures, behavioral problems, and specific facial dysmorphic features, including ptosis, hypertelorism, and arched eyebrows. The de novo occurrence of these microtriplications demonstrates the reduced reproductive fitness associated with this genotype, in contrast to 1p36.3 duplications which are mostly inherited and can be associated with similar facial features but with a less severe developmental phenotype. The shared triplicated region encompasses four disease-related genes of which GABRD and SKI are most likely to contribute to the phenotype.     

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There was no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.This investigation is part of the research program Disorders of the Neuromuscular System of the University of Nijmegen     

The vibratory innocent heart murmur in schoolchildren: A case-control Doppler echocardiographic study

Summary In 810 schoolchildren (aged 5–14 years) the prevalence of a grade 1–3/6 vibratory innocent heart murmur (VIHM) is 41%. Restricted to a grade 2 or 3 VIHM, the prevalence is 14%, decreasing from 21% in the age-class 5–6 years to 8% for children 13–14 years of age. The prevalence of a grade 3 VIHM is 1%. Together with a matched control, 84 children with a grade 2 or 3 VIHM underwent further cardiologic examination including electrocardiography, phonocardiography, and Doppler echocardiography. A positive correlation was found between the presence of a VIHM and higher left ventricular voltages on the ECG, but within the normal range; lower heart rate; smaller diameter of the ascending aorta (AAO); and higher blood flow velocity and higher maximal acceleration of the blood flow in the LVOT and the AAO. In 40% of the children with a VIHM, a systolic aortic valve vibration was seen with a frequency 100 Hz and an amplitude 1 mm, whereas this type of vibration was present in only one case control. No significant difference was found concerning the prevalence of false tendons in the left ventricle, systolic and diastolic diameter of the left ventricle, systolic time intervals, and shortening fraction of the left ventricle. The VIHM is strongly associated with a smaller AAO, with higher velocity and acceleration of the blood flow in the LVOT and AAO, and with a vibratory phenomenon of the aortic valve, pointing towards the LVOT-aortic valve region as the site of origin of the VIHM.