How to find and diagnose a CDG due to defective N-glycosylation

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A systematic review of interpersonal processes and their measurement within experience sampling studies of self-injurious thoughts and behaviours

Self-injurious thoughts and behaviours (SITBs) are a leading cause of death, and interpersonal processes (IPs) appear to play a role in SITBs. This systematic review synthesises the literature on IPs and SITBs in daily life and addresses four critical questions: (1) Which IPs have been assessed and how, (2) What is the relationship between IPs and SITBs in daily life?, (3) Do daily-life fluctuations in IPs differ between individuals with and without SITBs?, and (4) Do IPs relate differently to self-injurious thoughts than behaviours? Our review followed PRISMA guidelines and eligible literature was screened until 29 August 2023. We identified 52 Experience Sampling studies (34.62% daily-diary studies) of which most focused on IPs from suicide theories (e.g., thwarted belongingness) but largely used inconsistent operationalizations. Results from 35 studies investigating within-person associations were mixed. Based on 24 studies, whether individuals with and without SITBs differ in their interpersonal experiences remains unclear. Four studies have investigated whether IPs relate to the transition from thoughts to behaviours, but temporal models are needed to draw firm conclusions. Studies investigating IPs and SITBs in daily life are largely inconclusive. Psychometrically validated measures are warranted, and future daily-life studies would benefit from drawing on ideation-to-action frameworks

Congenital disorders of glycosylation: narration of a story through its patents

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDG by analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted a list of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drug delivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in the last 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking. In this study, we engaged with the community of Congenital Disorders of Glycosylation (CDG) to assess its needs and elicit social innovations to promote people-centred care and research. Methods: Drawing on a qualitative study, we conducted three think tanks in France with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. They were selected from the registry of the Second World Conference on CDG through heterogeneity and simple random sampling. Inductive and deductive approaches were employed to conduct interpretational analysis using open, axial and selective coding, and the constant-comparison method to facilitate the emergence of categories and core themes. Results: The CDG community has unmet needs for information, quality health care, psychosocial support and representation in decision-making concerned with care and research. According to participants, these needs can be addressed through a range of social innovations, including peer-support communities, web-based information resources and a CDG expertise platform. Conclusion: This is one of the few studies to engage lay and professional experts in needs assessment and innovation for CDG at a global level. Implementing the innovations proposed by the CDG community is likely to have ethical, legal and social implications associated with the potential donation of patients’ clinical and biological material that need to be assessed and regulated with involvement from all stakeholders. To promote people-centred care for the CDG community, and increase its participation in the governance of care and research, it is necessary to create participatory spaces in which the views of people affected by CDG can be fully expressed.FCT - Foundation for Science and Technology (Portuguese Ministry of Science, Technology and Higher Education), the Social European Fund and the POPH Programme supported this study with research grants: SFRH/BPD/111344/2015 (CF) and IF/01674/2015 (SS)

Phenotyping GABA transaminase deficiency: a case description and literature review

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range  T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.info:eu-repo/semantics/publishedVersio

SLC35A2-CDG: Novel variant and review

SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.This work is supported by National Funds through the Fundação para a Ciência e a Tecnologia (Portuguese national funding agency for science, research and technology) in the frameworks of the UID/Multi/00215/2013 project–Unit for Multidisciplinary Research in Biomedicine–UMIB/ICB AS/UP

Congenital tumors and nonimmune hydrops fetalis

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Влияние параметров одномассной системы с упругими ограничителями на характер ее колебаний

У статті розглянуто одномасну систему з пружними обмежувачами. Побудовано області існування різних режимів коливань системи, а також визначено вплив параметрів системи на межі цих областей.A one-mass system with elastic constraints is studied. Areas of existing of different oscillation modes are built. Also an influence of system parameters on limits of these areas is determined

Формирование алмазоподобных кремний-углеродных покрытий

Выпускная квалификационная работа 111 с., 23 рис., 29 табл., 39 источников, 1 прил. Ключевые слова: алмазоподообные углеродные, кремний, ПФМС, несамостоятельный дуговой разряд, твердость, тонкие пленки. Объектом исследования являются алмазоподобные кремний-углеродные покрытия, полученные из плазмы несамостоятельного дугового разряда с накаленным катодом. Цель работы – изучение процесса формирования алмазоподобных кремний-углеродных покрытий и исследование их свойств В процессе работы проводилась оптимизация процесса осаждения и экспериментальные исследования полученных пленок. В результате исследования были получены твердые покрытия с низкой степенью износа и низким коэффициентом трения. Область применения: повышение срока службы промышленных механизмов, медицинских инструментов и др.Final qualifying work of 111 p., 23 Fig., 29 tables, 39 source, 1 app. Keywords: diamond-like carbon, silicon, PFMS, dependent arc discharge, hardness, thin films. The object of the study is silicon-doped diamond-like carbon films prepared from the plasma of the dependent arc discharge with hot cathode. The work objective was the optimization of the process of deposition of silicon-doped diamond-like carbon films, synthesis of coatings and their research. In the process of the work it was carried out, that the optimization of the deposition process and experimental investigations of the received films. The study was received the solid films with a high wear resistance and a low friction coefficient. Scope: improving the lifetime of industrial machinery, medical tools, and other