Correction: A smile is all you need: predicting limiting activity coefficients from SMILES with natural language processing.

[This corrects the article DOI: 10.1039/D2DD00058J.].

Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi.

Background/objective: Neurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum NfL changes after gene replacement therapy (GRT) with onasemnogene abeparvovec-xioi.

Methods: We measured NfL in serum probes from 19 patients (10 SMA 1 and 6 SMA 2; 15 previously treated with nusinersen or risdiplam; 12 male) before and at variable time points after GRT.

Blue and green ammonia production: A techno-economic and life cycle assessment perspective.

Blue and green ammonia production have been proposed as low-carbon alternatives to emissions-intensive conventional ammonia production. Although much attention has been given to comparing these alternatives, it is still not clear which process has better environmental and economic performance. We present a techno-economic analysis and full life cycle assessment to compare the economics and environmental impacts of blue and green ammonia production.

Correction: A smile is all you need: predicting limiting activity coefficients from SMILES with natural language processing.

[This corrects the article DOI: 10.1039/D2DD00058J.].

A smile is all you need: predicting limiting activity coefficients from SMILES with natural language processing.

The knowledge of mixtures' phase equilibria is crucial in nature and technical chemistry. Phase equilibria calculations of mixtures require activity coefficients. However, experimental data on activity coefficients are often limited due to the high cost of experiments.

Sugar-to-What? An Environmental Merit Order Curve for Biobased Chemicals and Plastics.

The chemical industry aims to reduce its greenhouse gas emissions (GHGs) by adopting biomass as a renewable carbon feedstock. However, biomass is a limited resource. Thus, biomass should preferentially be used in processes that most reduce GHG emissions.

Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy.

Objective: Activated astroglia is involved in the pathophysiology of neurodegenerative diseases and has also been described in animal models of spinal muscular atrophy (SMA). Given the urgent need of biomarkers for treatment monitoring of new RNA-modifying and gene replacement therapies in SMA, we examined glial fibrillary acidic protein concentrations in cerebrospinal fluid (cGFAP) as a marker of astrogliosis in SMA.

Methods: 58 adult patients and 21 children with genetically confirmed 5q-associated SMA from four German motor neuron disease specialist care centers and 30 age- and sex-matched controls were prospectively included in this study.

The metabolic potential of plastics as biotechnological carbon sources - Review and targets for the future.

The plastic crisis requires drastic measures, especially for the plastics' end-of-life. Mixed plastic fractions are currently difficult to recycle, but microbial metabolism might open new pathways. With new technologies for degradation of plastics to oligo- and monomers, these carbon sources can be used in biotechnology for the upcycling of plastic waste to valuable products, such as bioplastics and biosurfactants.

Achieving net-zero greenhouse gas emission plastics by a circular carbon economy.

Mitigating life-cycle greenhouse gas emissions of plastics is perceived as energy intensive and costly. We developed a bottom-up model that represents the life cycle of 90% of global plastics to examine pathways to net-zero emission plastics. Our results show that net-zero emission plastics can be achieved by combining biomass and carbon dioxide (CO) utilization with an effective recycling rate of 70% while saving 34 to 53% of energy.

Moyamoya disease associated with pediatric pulmonary hypertension-a case report.

Moyamoya disease (MD) is a rare vaso-occlusive disorder that primarily affects intracranial cerebral arteries. The involvement of extracranial vessels is unusual. However, there are previous reports suggesting MD to be a systemic disorder, causing disease manifestations in vessels of other parts of the body.

Renewable carbon feedstock for polymers: environmental benefits from synergistic use of biomass and CO.

Polymer production is a major source of greenhouse gas (GHG) emissions. To reduce GHG emissions, the polymer industry needs to shift towards renewable carbon feedstocks such as biomass and CO. Both feedstocks have been shown to reduce GHG emissions in polymer production, however often at the expense of increased utilization of the limited resources biomass and renewable electricity.

Quality of Life in SMA Patients Under Treatment With Nusinersen.

Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to slow down or stop disease progression with a potentially major impact on patients' well-being. This study evaluates quality of life (QoL) in pediatric and adult patients over the course of therapy with nusinersen.

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.

Introduction: Autism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID). The major genetic causes for ASD and ID are largely unknown, however, a shared genetic etiology between ASD and ID must be assumed.

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen.

Nusinersen is an antisense-oligonucleotide (ASO) approved for treatment of 5q-spinal muscular atrophy (SMA). Since the drug cannot cross the blood-brain barrier (BBB), it must be administered into the cerebrospinal fluid (CSF) space repeatedly by lumbar puncture. However, little is known whether ASOs have an impact on CSF routine parameters that may yield information on CSF flow and/or intrathecal inflammation.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clinical trial data into a real-life environment is challenging, especially regarding the advice of patients and families to what extent they can expect a benefit from the novel treatment.

Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen.

Objective: To determine the diagnostic and monitoring value of serum neurofilament light chain (NfL) in spinal muscular atrophy (SMA).

Methods: We measured serum NfL in 46 SMA patients at baseline and over 14 months of treatment with the antisense-oligonucleotide (ASO) nusinersen using the ultrasensitive single molecule array (Simoa) technology. Serum NfL levels of SMA patients were compared to controls and related to cerebrospinal fluid (CSF) NfL, blood-CSF barrier function quantified by the albumin blood/CSF ratio (Qalb) and motor scores (Hammersmith Functional Motor Scale Expanded, HFMSE; Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised, ALSFRS-R).

Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment.

Background: There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA). The objective of this study was to examine neurochemical markers in cerebrospinal fluid (CSF) under treatment with the antisense-oligonucleotide (ASO), nusinersen.

Methods: We measured markers of axonal degeneration [neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH)] along with basic CSF parameters in 25 adolescent and adult SMA type 2 and 3 patients at baseline and after four intrathecal injections of nusinersen.

Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients.

Spinal muscular atrophy is a genetic motor neuron disease that leads to progressive muscular atrophy and muscle weakness. In December 2016, the Food and Drug Administration, and in June 2017, the European Medicines Agency approved the antisense oligonucleotide nusinersen for treatment of spinal muscular atrophy. Nusinersen has to be repeatedly administered intrathecally.

Tungiasis-related knowledge and treatment practices in two endemic communities in northeast Brazil.

Background: Tungiasis, caused by the sand flea Tunga penetrans, is highly prevalent in many resource-poor communities in sub-Saharan Africa, Latin America and the Caribbean. Studies on knowledge and treatment practices related to tungiasis in affected populations are virtually nonexistent. To fill this gap, we performed a study in two resource-poor communities in northeast Brazil where this parasitic skin disease is highly prevalent.

Identifying risk factors for tungiasis and heavy infestation in a resource-poor community in northeast Brazil.

Tungiasis is a neglected parasitic skin disease caused by penetration of female sand fleas into the epidermis. The ectoparasitosis is widespread in resource-poor communities in South America, the Caribbean and sub-Saharan Africa. To identify risk factors for the presence of sand fleas and severe infestation in an endemic community, we examined the entire population of a traditional fishing village for the presence of embedded sand fleas and determined the number and type of lesions.

Selective mass treatment with ivermectin to control intestinal helminthiases and parasitic skin diseases in a severely affected population.

Objective: To assess the short-term and long-term impact of selective mass treatment with ivermectin on the prevalence of intestinal helminthiases and parasitic skin diseases in an economically depressed community in north-east Brazil.

Methods: An intervention was carried out in a traditional fishing village in north-east Brazil where the population of 605 is heavily affected by ectoparasites and enteroparasites. The prevalence of intestinal helminths was determined by serial stool examination and the prevalence of parasitic skin diseases by clinical inspection.