Hydrolysis of PLA-like Plasma Polymer Films with Varying Degree of Crosslinking

Poly-lactide acid (PLA) based biodegradable films are of interest for packaging materials or bioapplications. Plasma-assisted vacuum evaporation technique uses oligomers released during thermal decomposition of source polymer as precursors for plasma polymerization. Conventionally prepared PLA with mw = 10000 g/mol was used as a source polymer. Films were prepared at various RF (13.56 MHz) plasma powers (0-20 W) in order to vary the amount of crosslinking in the film.Swelling and hydrolysis of films were monitored in real time using spectroscopic ellipsometry. The concentration profile of products of hydrolysis was measured by liquid-chromatography (LC-MS). FTIR, XPS and SEM analyses were used for monitoring of film composition and surface characterization. Molecular weights of source polymer and of the plasma polymer were determined by gel-permeation chromatography (GPC). Possibility to prepare PLA-like plasma polymer films with controlled degradability by hydrolysis was demonstrated

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3. CONCLUSIONS: Our study expands the spectrum of pathogenic variants identified in ALG3. Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

PURPOSE: Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. METHODS: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. RESULTS: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone-rod involvement overtime. Spectral-domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full-field electroretinography was normal. CONCLUSIONS: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease

Record-setting algal bloom in polymictic Lake Balaton (Hungary): A synergistic impact of climate change and (mis)management

Abstract After 25 years of apparently successful eutrophication management, a record‐breaking mixed bloom of Ceratium furcoides and Aphanizomenon flos‐aquae developed unexpectedly in 2019 in the large, polymictic Lake Balaton. The peak concentration of chlorophyll exceeded 300 mg/m3, 1.5 times higher than the pre‐management maxima. The external load was insufficient to provide the phosphorus (P) required to support this bloom, and its taxonomic composition was radically different from blooms in the 1980s. We hypothesised: (1) that unusually long periods of intermittent stratification led to anoxic P release from the sediments, providing the required P; and (2) that the surprising bloom composition indicated a potential regime shift. To test hypothesis 1, we analysed decade‐long high‐frequency data on drivers of lake metabolism recorded at a shallow near‐shore observatory. To explore likely dissolved oxygen (DO) conditions in deep water in 2019, we performed a sensitivity analysis of a one‐dimensional DO model driven by the General Ocean Turbulence Model, the latter being calibrated against high‐frequency hydrometeorological data measured in the open water. Hypothesis 2 was examined by a sequential t‐test analysis applied to multidecadal (1976–2020) data on phytoplankton biomass and composition, nutrient loads and summer mean air temperature. We found that DO depletion (&lt;1 g/m3) was the immediate precursor of the large 2019 bloom. The synergistic impact of a climatic regime shift and multiple coincident management actions provoked a shift in phytoplankton composition in 2013 and forced the ecosystem into the state of internal eutrophication. In the present ecosystem state, similarly large blooms could develop in any summer depending on the sequence of weather events. Within the present, warmer climate regime identified here, the effectiveness of external nutrient control in eutrophication management may be limited by changes in the thermal structure. Therefore, it is vital to supplement external nutrient control with internal nutrient control strategies, such as water level regulation, to manage eutrophication and prevent future blooms. Large, continuous polymictic lakes are susceptible to small changes in water level, because the likelihood of stratification (and thus the likeliness of a eutrophication event) increases steeply and non‐linearly with increasing depth. With a climate that continues to warm, and the associated changes expected in internal lake processes, it is possible that we will see regime shifts (such as that identified in Lake Balaton) across more lakes globally. Managing these conditions will require case‐specific modifications of lake management plans

MEE (Materials Engineering for Electronics) - Aim, Tools and Perspectives

New approach to solidification processes based on a combination  of mechanical vibrations and on specially introduced magneto-hydrodynamic forces is illustrated on GaSb grown from Ga and Sb solutions. Process is accelerated approximately 20-times compared with "classical" Travelling heater method - solution growth. Up to now, though ingots possess mosaic texture, their transport properties: μH = 3.800 cm2/Vs, p = 1.7 . 1017 at 77 K are slightly better than published results. A schematic arrangement of the growth apparatus for a modified travelling heater method, and of the growth conditions are given. A simple calculation of levitation phenomenon being generated by a controlled MHD forces are presented. There is brought a brief analyses of this phenomenon for an application on the above mentioned processes. Some experimentation attempts are added. Possible perspectives inhering in this peculiar process can also inspire young investigators/scientists