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Long-Term outcome of infantile onset pompe disease patients treated with enzyme replacement therapy
(2024)
Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients at school age is still limited.
Objective: We analyzed in detail cardiac, respiratory, motor, and cognitive function of 15 German-speaking patients aged 7 and older who started ERT at a median age of 5 months.
Results: Starting dose was 20 mg/kg biweekly in 12 patients, 20 mg/kg weekly in 2, and 40 mg/kg weekly in one patient. CRIM-status was positive in 13 patients (86.7%) and negative or unknown in one patient each (6.7%). Three patients (20%) received immunomodulation. Median age at last assessment was 9.1 (7.0–19.5) years. At last follow-up 1 patient (6.7%) had mild cardiac hypertrophy, 6 (42.9%) had cardiac arrhythmias, and 7 (46.7%) required assisted ventilation. Seven patients (46.7%) achieved the ability to walk independently and 5 (33.3%) were still ambulatory at last follow-up. Six patients (40%) were able to sit without support, while the remaining 4 (26.7%) were tetraplegic. Eleven patients underwent cognitive testing (Culture Fair Intelligence Test), while 4 were unable to meet the requirements for cognitive testing. Intelligence quotients (IQs) ranged from normal (IQ 117, 102, 96, 94) in 4 patients (36.4%) to mild developmental delay (IQ 81) in one patient (9.1%) to intellectual disability (IQ 69, 63, 61, 3x < 55) in 6 patients (54.5%). White matter abnormalities were present in 10 out of 12 cerebral MRIs from 7 patients.
The utilization of lasers in dentistry expands greatly in recent years. For instance, fs-lasers are effective for both drilling and caries prevention, while cw-lasers are useful for adhesive hardening. A cutting-edge application of lasers in dentistry is the debonding of veneers. While there are pre-existing tools for this purpose, there is still potential for improvement. Initial efforts to investigate laser assisted debonding mechanisms with measurements of the optical and mechanical properties of teeth and prosthetic ceramics are presented. Preliminary tests conducted with a laser system used for debonding that is commercially available showed differences in the output power set at the systems console to that at specified distances from the handpiece. Furthermore, the optical properties of the samples (human teeth and ceramics) were characterised. The optical properties of the ceramics should closely resemble those of teeth in terms of look and feel, but they also influence the laser assisted debonding technique and thus must be taken into account. In addition first attempts were performed to investigate the mechanical properties of the samples by means of pump-probe-elastography under a microscope. By analyzing the sample surface up to 20 ns after a fs-laser pulse impact, pressure and shock waves could be detected, which can be utilized to determine the elastic constants of specific materials. Together such investigations are needed to shape the basis for a purely optical approach of debonding of veneers utilizing acoustic waves.