IntroductionAutism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes. Multiple intellectual disability (ID) susceptibility genes have ...been identified in ASDs to date. The trafficking protein particle complex subunit 9 TRAPPC9 (OMIM#611966) in an autosomal recessive intellectual disability (ID) gene associated with not fully penetrant phenotype combining secondary microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD).ObjectivesThe aim of this study is to consider TRAPPC9 deficiency in autosomal recessive ID with ASD.MethodsWe present the observation of two siblings, born to Tunisian consanguineous and healthy parents, followed up for syndromic intellectual disability (ID) associated ASD and microcephaly. A clinical exome sequencing was performed to one child using a Trusight One kit of Illumina. We used sanger sequencing to validate the suspected variant for the other child and to specify the parental segregation.ResultsA homozygous pathogenic variant in the TRAPPC9 (NM_001160372.4) gene, c.1414C > T (p. Arg472Ter) were identified in one child. Sanger sequencing confirmed the homozygosity profile of this variant for the other child while the parents were both heterozygous carriers.ConclusionsRepetitive behaviours, especially hand-flapping, were the mean ASD feature in our patients. The current variant is known in the Tunisian population. It is described to lead to the creation of a premature stop codon and a truncating protein causing a TRAPPC9 deficiency. The impairing neuronal NFkB signalling due to TRAPPC9 deficiency has been suggested to be implicated in ASD. Due to the profound ID seen in both patients, we suggest the classification of ASD related to TRAPPC9 deficiency as “secondary” rather than “primary”.Our results support the implication of TRAPPC9 in secondary ASD and shed the light on the possibility of screening p. Arg472Ter in Tunisian patients with this form of ASD as it is a recurrent mutation in the Tunisian population.Disclosure of InterestNone Declared
Introduction
Caregiving negatively affects the psychological and physical health of the caregivers, especially in parents of children with neurological impairement (NI).Furthermore, the behavior and ...demands of the patient make the caregivers encounter increased stress levels and negative thoughtsabout the future that may lead to depression in caregivers.
Objectives
To assess the relationship between caregiver burden and symptoms of depression in parents of children with NI.
Methods
A total of 33 caregivers of children with NI, participated in this cross-sectional, descriptive and analytical study, carried out in Child Neurology Department of the University Hospital in Sfax (Tunisia), between February and April 2021.
The Zarit-Caregiver-Burden-Scale (Zarit-CBS) and the Beck Depression Scale were administered.
Results
The average age of the caregivers (27 mothers and 6 fathers) was 38,33 years ± 6,53 years. Among the parents, 81,81% didn’t exceed the secondary educational level and75,75% of them had an irregular occupation.
The average age of the children (21 boys and 12 girls) was 7,58±4,29 years.Near to the half of them (51,51%) had intellectual disability.Over 54.54% of the children had a functional independence, while 21.21% required help in walking and 24.24% were unable to walk.
The intervention was based on motor rehabilitation (57,57%), adequate equipment (24,24%), ergotherapy (45,45%) and speech therapy (60,6%).After the intervention, 63,63% of children had an improvement and 30,3% had a stationary state.
The mean score of Zarit-CBS was 52,45±14,26. The caregiver burden was noted in 96,96%.
The mean score of Beck was 9,33±5,48. The depression was noted in 78,78%.
The total Zarit-CBS score had positive correlation with Beck scores (p=0.038).
Conclusions
There is a positive relationship between the caregiver burden and depression symptoms. Thus, effort should be made to relieve caregiver burden in parents of children with NI.
Disclosure of Interest
None Declared
IntroductionMany neurological, sensory and behavioural deficits, are linked with significant limitations in the overall functioning not only of the child but also his/her closest family, and poses a ...great challenge for the primary parental caregivers.ObjectivesTo assess the caregiver burden in parents of children with neurological impairement (NI), and itsrelated factors.MethodsA total of33 caregivers of children with NI participated in this cross-sectional, descriptive and analytical study, carried out in Child Neurology Department of the University Hospital in Sfax (Tunisia), between February and April 2021.The Zarit-Caregiver-Burden-Scale (Zarit-CBS) was administered.ResultsThe average age of the caregivers (27 mothers and 6 fathers) was 38,33 ± 6,53 years. Among the parents, 17.14% had another disabled child and 30.3% had a mediocre health status. Mother caregivers constitutes the majority of caregiving (82.85%).The average of the number of children in the family was 1.97±1.18 and the average age of the children (21 boys and 12 girls) was 7,58±4,29 years. Near to the half of them (51,51%) had intellectual disability.Over 54.54% of the children had a functional independence, while 21.21% required help in walking and 24.24% were unable to walk. The intervention was based on motor rehabilitation (57,57%), adequate equipment (24,24%), ergotherapy (45,45%) and speech therapy (60,6%).After the intervention, 63,63% of children had an improvement and 30,3% had a stationary state.The mean score of Zarit-CBS was 52,45±14,26. The caregiver burden was noted in 96,96%.The total Zarit-CBS score was associated with the number of children in the family (p=0.047).There was no significant relationship between Zarit-CBS and the severity of impairement (p=0.418).ConclusionsGiven the variety of factors affecting caregiver burden, specific interventions may promote parental caregivers’well-being, and consequently lead to improved quality of care provided to children with NI.Disclosure of InterestNone Declared
Phosphogypsum and cement have been reported to improve the physicochemical properties of clayey soils. The present study aimed to investigate the behavior of various soils with different particle ...sizes and chemical and mineralogical compositions in the presence of phosphogypsum and cement mixed at various proportions. These hydraulic binders were assayed on three different soil samples, and their effects were examined using a battery of standardized tests, including the Atterberg limit, uniaxial compressive strength, Californian Bearing Rate (CBR) test, thermogravimetric analysis (TGA), microstructure observation (SEM), and X-ray diffraction tests. The results revealed a significant effect associated with the variation of phosphogypsum content in the soils. Keeping the cement content constant in the mixture, the continuous addition of phosphogypsum was noted to allow shifting the domain of plasticity to the highest water contents, which reduces the sensitivity of the soil to water and to increase the strength of soil. An increase of CBR index with the addition of phosphogypsum and cement is obtained. This treatment could have positively influenced the optimum moisture content and the maximal dry density. The mixture of soil-phosphogypsum and cement could give new forms such as ettringite and hydrate indicators of the improvement of the mechanical properties of the soil. This improvement varies from one soil to another, depending on its granularity and its mineralogy. The mineralogical composition of the soil, particularly kaolinite, amount, and size grading, have direct effects on the physical and mechanical properties of the soils under investigation.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Aims: Purification and characterization of a new bacteriocin, Bacthuricin F4 of Bacillus thuringiensis.
Methods and Results: A newly isolated B. thuringiensis subsp. kurstaki strain BUPM4, was ...shown to produce a novel bacteriocin named Bacthuricin F4. The highest bacteriocin activity was found in the growth medium and evidenced in the late exponential growth phase. Bacthuricin F4 could be purified by a two‐step procedure: ammonium sulphate precipitation of protein from culture supernatant followed by a reverse phase chromatography. Upon purification, the specific activity was increased 100‐fold. This bacteriocin was heat‐stable up to 70°C and resisted up to pH 3·0. Bacthuricin F4 was sensitive to proteases demonstrating its proteinaceous nature. Its molecular mass, determined by mass spectrometry was 3160·05 Da. Direct N‐terminal sequencing of Bacthuricin F4 revealed the following sequence: DWTXWSXL. The latter was unique in the databases. Bacthuricin F4 was active against Bacillus species while it had little or no effect on Gram‐negative bacteria.
Conclusions: A strain BUPM4 of B. thuringiensis subsp. kurstaki, was shown to produce a new bacteriocin named Bacthuricin F4 of both new molecular mass (3160·05 Da) and new amino acid terminal sequence. This is, to our knowledge, the first bacteriocin exhibiting such characteristics reported to be produced by B. thuringiensis.
Significance and Impact of the Study: The bacteriocin produced by the B. thuringiensis strain BUPM4 respond to both criteria of thermostability and stability to low pHs. Thus, it could be used for the control of the related species of Bacillus harmful for agricultural products.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Radiofrequency identification (RFID) is an enabling technology that can provide organizations with unprecedented improved visibility and traceability of items throughout their journey in the value ...chain. As RFID deployments are scaling-up from pilot projects and proof-of-concept trials towards fully-fledged enterprise applications, RFID system management challenges will escalate. This paper takes an in-depth look at the management aspects of RFID systems. The current state-of-the art of RFID systems management is exposed, whereby various approaches are discussed under five functional areas, namely configuration, fault, performance, accounting and security management. The paper also highlights some future trends and open research areas that can potentially trigger further interests and investigations in this important topic.
Chylomicron retention disease: A rare cause of chronic diarrhea Ben Ameur, S.; Aloulou, H.; Jlidi, N. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
July 2016, 2016-Jul, 2016-07-00, 20160701, Volume:
23, Issue:
7
Journal Article
Peer reviewed
Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid ...malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
La maladie de rétention des chylomicrons (MRC) est une malabsorption lipidique de transmission autosomique récessive. Elle est due à une incapacité de sécrétion des chylomicrons et de l’apolipoprotéine B48 en période post-prandiale. Elle résulte d’une anomalie du gène codant pour la protéine SAR1B. Elle est méconnue et pose le problème de diagnostic différentiel surtout avec la maladie cœliaque. Le diagnostic précoce permet d’instaurer un traitement le plus tôt possible, évitant la dénutrition sévère et les complications neurologiques. Nous rapportons l’observation d’une enfant de 12 mois d’origine tunisienne hospitalisée pour diarrhée chronique. Le diagnostic de MRC a été évoqué devant une hypocholestérolémie, un taux normal des triglycérides et un aspect lactescent de la muqueuse duodénale à la fibroscopie digestive. L’étude génétique a confirmé le diagnostic. Le régime pauvre en graisses avec supplémentation en vitamines liposolubles a permis une évolution favorable.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Le déficit congénital en facteur XI appelé aussi maladie de Rosenthal ou hémophilie C, est une maladie hémorragique rare par déficit constitutionnel en facteur de coagulation qui touche surtout la ...population d’origine juive ashkénaze. Ce déficit se révèle généralement par un saignement lors d’une chirurgie ou d’un traumatisme. Nous rapportons un cas d’hématémèse lié à un déficit congénital en facteur XI. Il s’agissait d’une fillette âgée de 5ans et demi, issue de parents cousins germains, qui avait été hospitalisée pour des douleurs abdominales associées à des vomissements et une hématémèse de faible abondance. Le bilan biologique révélait un taux de prothrombine (TP) à 100 % et un temps de céphaline activé (TCA) allongé à 113 secondes (témoin 29). Le dosage des facteurs de la coagulation montrait un taux normal de facteur VIII (100 %) et IX (90 %) alors que le taux du facteur XI était bas à 2,7 %. L’évolution a été spontanément favorable.
Congenital factor XI deficiency, also called hemophilia C, is a rare coagulation disorder that is particularly common in Ashkenazi Jews. Individuals with factor XI deficiency may or may not have a mild bleeding tendency, which is typically provoked by surgery or trauma. We report the case of a 5.5-year-old girl who presented with abdominal pain, vomiting, and hematemesis. Biological tests showed a prolonged activated partial thromboplastin time (aPTT) of 113 s (control=29 s) caused by a constitutional factor Xl deficiency (2.7%). The progression was spontaneously favorable.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Congenital factor XI deficiency, also called hemophilia C, is a rare coagulation disorder that is particularly common in Ashkenazi Jews. Individuals with factor XI deficiency may or may not have a ...mild bleeding tendency, which is typically provoked by surgery or trauma. We report the case of a 5.5-year-old girl who presented with abdominal pain, vomiting, and hematemesis. Biological tests showed a prolonged activated partial thromboplastin time (aPTT) of 113 s (control=29 s) caused by a constitutional factor Xl deficiency (2.7%). The progression was spontaneously favorable.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
