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Hurler syndrome (HS) is a severe inborn error of metabolism causing progressive multi-system morbidity and death in early childhood. At present, stem cell transplantation (SCT) is the only available treatment that can prevent central nervous system disease progression in HS patients. Although SCT has been shown to be effective for several important clinical outcome parameters, the reported clinica
Amino acids are not only indispensable for protein synthesis but also play important cellular functions. In this chapter, the central nervous system (CNS) functions of serine, glycine, and threonine are discussed. Both the specific functions of the aforementioned amino acids and the functions of their derivatives are reviewed in relation to brain development and neurotransmission. In particular, f
We present a young male patient with breast cancer having several risk factors likely acting in consort: irradiation of the breast for gynecomastia in adolescence and a life-long administration of phenothiazine for schizophrenia from the age of 16 years, with elevated serum prolactin level resulting in breast cancer development 24 years after irradiation.
The Upper Paraná River Basin (UPRB) has undergone extensive Land Use and Cover Changes (LUCC) in thelatest decades, due to rapid population growth and economic development. Furthermore, variation in precipitationpatterns was observed across the basin mainly after the 1970s Climate shift. Concurrently, the UPRB has presentedsignificant changes in its hydrology. In this context, this thesis investig
Introduction: Unwanted glucose absorption during peritoneal dialysis (PD) remains a clinical challenge, especially in diabetic patients. Recent experimental data indicated that inhibitors of the sodium and glucose co-transporter (SGLT)-2 could act to reduce glucose uptake during PD, which raises the question of whether glucose absorption may also occur via intracellular or trans-cellular pathways.
This Phase I study investigated the recommended Phase II dose (RP2D) of inotuzumab ozogamicin (InO), a CD22-directed antibody-drug conjugate, in pediatric patients with multiple-relapsed/refractory (R/R) CD22-positive acute lymphoblastic leukemia (ALL). Patients (≥1-<18 years) received three InO doses (Days 1, 8, 15) per course. Dose-escalation was based on dose-limiting toxicities (DLT) during Co
A match-action cut in feature films connects two shots of a single continuous movement. This type of editing often goes unnoticed and is arguably the most effective form of continuity editing. However, the literature offers little agreement on editing best practice and, by implication, on how our perceptual system deals with disjointed moving images. Studies have suggested that frames should overl
Besides reducing fuel demands and indoor air pollution, pyrolytic cooking stoves produce a by-product (biochar) that can improve soil fertility and serve as a sink for carbon sequestration. Most smallholder farmers in Africa depend on wood for fuel, suffer from exposure to smoke and soils in their cultivated farms are deteriorating. Biochar (bio-charcoal) production has potentials to reduce energy
Rationale, aims and objectives: Many surgical procedures are nowadays performed as ambulatory or short stay procedures, reducing hospital length of stay. Patient safety and quality of care remain imperative especially when adopting enhanced recovery pathways. Patients should be adequately informed and prepared prior to admission. Recovery is to a major extent dependent after discharge on self-careRationale, aims and objectives: Many surgical procedures are nowadays performed as ambulatory or short stay procedures, reducing hospital length of stay. Patient safety and quality of care remain imperative especially when adopting enhanced recovery pathways. Patients should be adequately informed and prepared prior to admission. Recovery is to a major extent dependent after discharge on self-care
Over the last decades, dramatic improvements in combinatorialoptimisation algorithms have significantly impacted artificialintelligence, operations research, and other areas. These advances,however, are achieved through highly sophisticated algorithms that aredifficult to verify and prone to implementation errors that can causeincorrect results. A promising approach to detect wrong results is tous
Deep eutectic solvents (DES) and their hydrated mixtures are used for solvothermal routes towards greener functional nanomaterials. Here we present the first static structural and in situ studies of the formation of iron oxide (hematite) nanoparticles in a DES of choline chloride : urea where xurea = 0.67 (aka. reline) as an exemplar solvothermal reaction, and observe the effects of water on the r
We review recent results on chiral SU(2)L ×SU(2)R ≈ O(4) and U(1)A symmetry restoration in QCD. In particular, we discuss how Ward Identities allow one to derive general results on partner degeneration, which shed light on the distinction between the O(4) and O(4) ×U(1)A patterns of the chiral transition. For that purpose, susceptibilities associated with the O(4) and U(1)A symmetries are studied.
A broad range of rare inherited metabolic disorders can present with dystonia. For clinicians, it is important to recognize dystonic features, but it can be complicated by the mixed and complex clinical picture seen in many neurometabolic patients. Careful phenotyping is the first step towards the diagnosis of the underlying condition and subsequent targeted treatment, further supported by imaging
Objective: The introduction of hematopoietic stem cell transplantation (HSCT) has significantly improved the life-span of Hurler patients (mucopolysaccharidosis type I-H, MPS I-H). Yet, the musculoskeletal manifestations seem largely unresponsive to HSCT. In order to facilitate evidence based management, the aim of the current study was to give a systematic overview of the orthopaedic complication
