37 research outputs found
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport or degradation of neurotransmitters or co-factors and result in various degrees of delayed or impaired psychomotor development.
To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires.
Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter (DAT) deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups.
This analysis of the iNTD registry data highlights: a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders, and b) previously underreported behavioral traits
Use of an Electrochemical Split Cell Technique to Evaluate the Influence of Shewanella oneidensis Activities on Corrosion of Carbon Steel
Microbially induced corrosion (MIC) is a complex problem that affects various industries. Several techniques have been developed to monitor corrosion and elucidate corrosion mechanisms, including microbiological processes that induce metal deterioration. We used zero resistance ammetry (ZRA) in a split chamber configuration to evaluate the effects of the facultatively anaerobic Fe(III) reducing bacterium Shewanella oneidensis MR-1 on the corrosion of UNS G10180 carbon steel. We show that activities of S. oneidensis inhibit corrosion of steel with which that organism has direct contact. However, when a carbon steel coupon in contact with S. oneidensis was electrically connected to a second coupon that was free of biofilm (in separate chambers of the split chamber assembly), ZRA-based measurements indicated that current moved from the S. oneidensis-containing chamber to the cell-free chamber. This electron transfer enhanced the O2 reduction reaction on the coupon deployed in the cell free chamber, and consequently, enhanced oxidation and corrosion of that electrode. Our results illustrate a novel mechanism for MIC in cases where metal surfaces are heterogeneously covered by biofilms
JOURNAL OF SEMANTIC, Vol. 1, no.3, pp. 287-290.
The posthumous publication of J.L. Austin's How to do things with word in 1962 resulted in the creation of a new field of enquiry ~ which Austin sometimes referred to as linguistic phenomenologv. i.e. the investigation of everyday phenomena through their codification in language. In How to do things with words Austin combined the idea of a linguistic phenomenology with the idea of speech as action. This combination has subsequently become extremely influential, especially through the publication of John Searle's contribution to the Austinian ideas in Speech Acts (1969). Speech Acts have become popular not only in philosophy but also in linguistics (Sadock 1974), literary criticism (Ohmann 1970), anthropology (Hymes 1974), sociology (Silverman 1976) and psychology (Clark and Clark 1977). In linguistics, one of the first applications of Austin's thinking came through the so-called performative hypothesis, put forth within the bounds of what was then known as generative semantics by linguists such as Ross (1970) and Sadock (1974). The main idea of the performative hypothesis was that an abstract conceptual entity corresponding to a performative verb (a verb that could be used in the hereby formula e.g. I hereby baptize you) was an underlying component of the semantic structure of every sentence. During the mid-seventies, however, a different approach to the phenomena Austin had pointed out, was developed. In Allwood (1976) and Verschueren (1979) it was claimed that the so-called 'speech act theory', the term used by Searle for the study of speech as action, primarily was a study of the semantic fields of terms designating different aspects of speech and that the most important rules and conventions involved in speech act theory were in fact lexical conventions for the use of different lexical items denoting speech. In this approach. the analysis of speech activity term. is primarily a contribution to lexicography. The analysis can, however, secondarily give us important hints abou
Eradication of Helicobacter pylori reduces the rate of rebleeding in complicated ulcer disease
Unmet Needs of Parents of Children with Urea Cycle Disorders
(1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families. (2) Methods: To evaluate the family burden in parents with children suffering from UCDs, we used validated questionnaires. Socio-demographic characteristics were evaluated, and an adapted version of the Parental Need Scale for Rare Diseases questionnaire was used. The survey was conducted in families of UCD patients cared for at the University Children’s Hospital Heidelberg. (3) Results: From April to November 2021, 59 participants were interviewed (mothers n = 34, fathers n = 25). The affected patients most frequently suffered from ornithine transcarbamylase deficiency (OTC-D) (female n = 12, male n = 12), followed by argininosuccinate synthetase deficiency (ASS-D, n = 13) and argininosuccinate lyase deficiency (ASL-D, n = 8). About one-third of the participants were “dissatisfied” or “extremely dissatisfied” with health professionals’ disease knowledge. In addition, 30% of the participants reported a medium or high need for “additional information on the development of their children”, and 44% reported a medium or high need “for information on available services”. A majority of 68% reported a need for additional support regarding services such as support groups (42%) or psychological counseling (29%). (4) Conclusions: Our study indicates that there is an unmet need for sufficient information about the development of children with UCDs, as well as for information about available support services for families with UCD patients. Furthermore, the results highlight the importance of establishing or improving family-centered care approaches. This pilot study may serve as a template for the assessment of the family burden associated with other inherited metabolic diseases