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Autism 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).
Objectives
The aim of this study is to consider TRAPPC9 deficiency in autosomal recessive ID with ASD.
Methods
We 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.
Results
A 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.
Conclusions
Repetitive 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.
Cornelia De Lange syndrome (CdLS) is a dominant and rare genetically heterogeneous syndrome. It is characterized by a large phenotypical spectrum going from a classical to a non-classical form affecting multiple organ systems including central nervous, locomotor, skin, gastrointestinal, immune and endocrine systems in association with specific dysmorphic features. Neuropsychiatric manifestations represent a hallmark of CdLS phenotype.
Objectives
The aim of this study is to describe the neuropsychiatric features of Cornelia De Lange syndrome.
Methods
This is a descriptive and retrospective study compromising unrelated Tunisian patients diagnosed clinically and genetically with CdLS during the period between 2002-2021. Each patient underwent a comprehensive clinical evaluation. In this study, we focused on neuropsychiatric and behavioural phenotype specifying intellectual disability(ID), language delay (LD), autism spectrum disorder (ASD), hyperactivity, aggressivity, specific learning disorder(SLD), sleep problems, compulsive behaviours and social anxiety disorders during adolescence.
Results
A total of nine patients were included in this study. ID was present in all the evaluated patients with different level of severity evolving from mild (8/9) to severe (1/9). LD in absent of hearing problems was detected in two patients. Hyperactivity was found in three patients. Aggressivity was discovered in one patient in a form of self-injurious behaviour in one patient and hetero-aggressivity in another. None of our patients was diagnosed with ASD. Sleep problems such as frequent night-time awakenings were observed in one patient. All patients at age of schooling presented different levels of SLD. None of our patients was diagnosed with anxiety or compulsive behaviours.
Conclusions
Our results support the implication of behavioural and psychiatric features in CdLS phenotype. All of symptoms described in the literature were present in our patients. Further evaluation of our patients during their life is important to reveal age-related features such as anxiety or compulsive behaviours. These features can be used to inform specific psychiatric assistance for family psychoeducation, psycho-social interventions, and cognitive-behavioural education treatment approaches in individuals with CdLS.
The initial medical certificate (CMI) is a medico-legal document of great importance. Writing CMIs is a frequent act in emergency medicine. In 2011, the Haute Authority of Medicine (HAS) published good practice recommendations concerning the writing and content of these certificates. Nevertheless, this practice faces a difficult reality in the emergency services. The aim of this study was to analyze the writing quality of CMIs in terms of compliance of all the criteria collected with respect to HAS recommendations.
Method:
This was a retrospective study, evaluating professional practices over a period of two years in Ben Arous ED. We analyzed CMIs written by EPs. The certificates were subjected to a critical reading to begin a comparative study of the quality of writing of these certificates with the HAS recommendations using a criteria grid relating to the theoretical content of the certificates.
Results:
207 CMIs were analyzed (Acts of violence 88%, work accidents 12% and AVP less than 1%). The medical writers were mainly represented by general practitioners (98%). Not all of the CMIs complied with writing recommendations. The identity of the physician, the identity of the patient, the date of the examination and of the facts, the nature of the lesions, the handwritten signature of the doctor and the stamp were mentioned in more than 95% of the CMIs. The presence of CNOM registration number, the profession, the address and the number of the national identity of the patient, the place of the facts, the medical history and the previous condition of the patient were absent in more than 95% of the CMIs. The duration of the ITT was written in full in 36% of the cases.
Conclusion:
The study revealed insufficiencies in the quality of CMI drafting written by EP. Specific training is underway to improve certificate redactions.
Handover is of big value in preserving continuity of the medical services chain when managing patients. Simulation is well accepted as a good learning method to acquire non-technical skills. Actual studies dealing with this issue are performed on paramedics. Studies involving physicians are rare and usually focus on interviews or questionnaires describing practical situations.
The aim of our study was to evaluate the utility of simulation in enhancing the quality of handover between both pre-hospital and intra-hospital physicians.
Method:
We conducted a prospective pre-test/post-test study in a regional Emergency Medical System (EMS) on the handover topic.
We included voluntary physicians who signed participation consent. The study was designed as a three-step project: theoretical training with pre-test and post-test, 1st simulation session, 2nd simulation session with post-test. The two simulation sessions were evaluated according to a specific score. We evaluated the progression of knowledge (tests means) and skills (percentages of good answers): before and after theoretical training and before and after simulation sessions.
Results:
Sixteen EMS physicians were enrolled. Thirteen were under 40 years old and ten were emergency medicine physician specialists. Theoretical training made progression in means and percentage good answers (post-test 1 vs. pré-test : 9.5±3.3 vs 6.9±2 ; p=0.008 et 22 vs. 10% ; p=0,001 respectively). Progression of means after simulation was noticed (2nd session vs. 1st session) (16.3±0.9 vs. 12.3±2.5 ; p<0.001). Simulation enhanced significant quality of handover. Means and percentage of good answers in tests was better after simulation sessions (post-test 2 vs. post-test 1 vs. pre-test : 10.7±2.8 vs. 9.5±3.3 vs. 6.9±2 ; p=0.01 et 29% vs. 22% vs. 10% ; p<0.001 respectively).
Conclusion:
Our study showed the utility of simulation in enhancing handover between pre-hospital and intra-hospital physicians. Simulation as an active learning method, combined with theoretical training, can improve knowledge and enhance skills.
As a part of a primary intervention, Emergency Medical Services (EMS) may leave a patient at the scene. This decision is made in partnership with the dispatching center. The prognosis of these patients is often unknown. The aim of our study was to assess the outcomes of non-transported EMS patients.
Method:
It was a descriptive, prospective study conducted over a two-year-period. We included all alive non-transported EMS patients from the site of intervention after a primary mission of the EMS team based on a medical decision. The prognosis was assessed by unexpected events (UE) defined by death, second EMS call, urgent consultation or hospitalization/surgery within seven days. We considered two groups: a group with UME (UME+) and a group with good evolution (UE-).
Results:
We included 97 patients. The average age was 56±19 years. Seventeen patients (17,5%) had no medical histories. Hypoglycemia was observed in 43% of patients. Thirty-four patients (35%) had an UE. These UEs were distributed as the following: ten consulted a private doctor, ten consulted their family physician, seven called the EMS, three visited the emergency department and four died. There were no significant differences in demographic, anamnestic characteristics between two groups. Psychiatric pathology was more common in the UE- group(28% vs. 9%; p=0.0037). Intravenous injections were more common in the UE+ group (64% vs 39% ; p=0,019). Among the four deaths, three were unexpected.
Conclusion:
One-third of non-transported EMS patients had UE. Unexpected death was rare (one patient). Setting-up a system for these patients including scores and algorithms, and a post-EMS compulsory visit in collaboration with family physicians could be beneficial.
The docimology or "science of examinations" is a scientific discipline devoted to the study of the examination in all its dimensions. The main objective is the development of standards guaranteeing valid, reliable and objective tests. It was adopted within a Medical School in 2007.
Our aim was to analyze results of docimological survey results of written acute medicine examinations through a global approach, by discipline and by item.
Method:
This was a retrospective study analyzing the notes of acute medicine examinations (January and May sessions) of Second Cycle Medical Studies 3). We have calculated docimological parameters allowing three levels of assessment: global, by discipline, and items analysis.
Results:
We analyzed 407 scripts, 99 questions and 6,919 pieces of data. The overall success rate was 97.6%. Highest success rates were found in Medical resuscitation (87%). The lowest rate was found in emergency medicine (53%). The difficulty index for the January session was 0.53 and 0.61 for the May session. For the January session: 24% of questions were easy, 14% of questions were difficult and 61% were of acceptable difficulty. For the May session: 40% of questions were easy, 6% of questions were difficult and 54% were of acceptable difficulty. The discrimination index was 0.27 for the January session and 0.24 for the May session. Discrimination was very good in 18% of items and good in 25%. Useless and bad discrimination items were about 35% for both sessions. Average Cronbach’s Alpha was 0.84, showing good internal-consistency.
Conclusion:
Overall, acute medical examinations have joined docimological recommendations and had an acceptable internal consistency and a good level of difficulty and discrimination. However, some weaknesses had been revealed specially for the discipline with low weighting. A reflection on the integration of questions would make up for these weaknesses. This would ensure better assessment and training.
This paper attempts an overview of new kind of segmented mill, examples of which have been found at Thysdrus (El Jem) and Zama in Africa Proconsularis. These grain mills are quite different morphologically and technically from other mills in the ancient Mediterranean world. These rare archaeological finds are not discussed in the ancient literature or in modern scholarship, leaving them difficult to understand. This article explores the history of segmented mills and the operation and dating of this African mill type.
This article addresses the lack of literature on grinding and crushing techniques and its equipment in Africa Proconsularis. A new typology is presented, along with their geographical distribution. The types of stones used are also discussed, in relation to provenance, suitability and technological innovations. The conclusion questions what we know and what future research needs to address.
The combination of lithium and neuroleptic is frequently used in the treatment of bipolar disorder. After a febrile episode, some patients exhibited neurological sequelae including cerebellar, pyramidal and extra-pyramidal signs. Lithium may be the main factor of neurotoxicity but hyperthermic states are probably involved in determining brain damage.
Case description
58 year-old Tunisian women with a medical history of bipolar disorder treated by combination of lithium carbonate (700 mg/day) and levomepromazine (50 mg/day), was presented to the hospital with complaint of fever, cough, walking instability, choreic and dystonic abnormal movements. Physical examination found a temperature of 39 C°, rhino- bronchial, cerebellar, pyramidal, and extra-pyramidal syndrome. The additional diagnostic tests such as brain scan, MRI brain and lumbar puncture were normal. Desperate the corticoid treatment the cerebellar syndrome persisted.
Discussion
This case and some literature reviews illustrate the role of hyperthermic states in brain damage of the neuroleptics-lithium combination. Neuropathological findings showed selective degeneration of cerebellar purkinje cells. Research on this topic is recommended.
Psychosocial stressors are found in 40 to 80% of patients with psoriasis. The inability to cope with a stressful situation can induce a flare up of psoriasis. Several factors modulate our adaptive response to stress such as affective temperament (AT).
Objectives
The objective of this study is to determine the dominant AT in patients with psoriasis and the correlation between AT and clinical features of the disease.
Methods
It was a descriptive cross-sectional study. A total of sixty five subjects and two examiners were recruited. The evaluation of temperament was made thanks the Tunisian version of TEMPS-A.
Results
Hyperthymic temperament (HT) was the dominant temperament in patients with psoriasis (70%). Patients with poor response to treatment had a higher prevalence of cyclothymic (CT), depressive (DT), irritable (IT) and anxious (AT) temperament. The prevalence of CT (p=0.039), DT and AT (p=0.032) was higher in patient with joint pain and pruritus. The stressful situations induce more flare up of psoriasis in patient with AT (p=0.006) and DT (p=0.06). A patient with HT reported minimal discomfort, the patient with IT, CT, DT and AT had daily to major discomfort.
Conclusion
Patients with psoriasis have the same dominant temperament than general population. However, the patients with AT, CT, DT and IT have more poor response to treatment and more functionally disabling symptoms (pruritus, joint pain). The impact on quality of life and expressed discomfort would be greater.
A survey of the prevalence of rigid ryegrass (Lolium rigidum) resistant to ACCase and ALS herbicides was conducted in major-cereal growing regions in the north of Tunisia. Randomly collected ryegrass populations were assessed, using the Syngenta RISQ® test, for resistance to clodinafop-propargyl, iodosulphuron + mesosulphuron and pinoxaden. Of the 177 tested populations, 58% exhibited resistance to clodinafop-propargyl and 52% to iodosulphuron + mesosulphuron, with 40% exhibiting resistance to both herbicides. Significant variations in the frequencies of rigid ryegrass resistant to clodinafop-propargyl and/or iodosulphuron + mesosulphuron were observed between surveyed regions which may be the result of differences in the history of herbicide use. Over 50% of resistant populations contained 60% of resistant plants or more, indicating the extent of resistance evolution in these regions. Our study demonstrates that the extent of resistance to ACCase and ALS-inhibiting herbicides in rigid ryegrass is widespread in major cereal-growing regions of Tunisia. Therefore, weed management must be focused on reducing the frequency of herbicide application, using multiple herbicide mechanisms of action, rotating different modes of action and integrating alternative control options.
The functional significance of pomegranate (POM) supplementation on physiological responses during and following exercise is currently unclear. This systematic review aimed (i) to evaluate the existing literature assessing the effects of POM supplementation on exercise performance and recovery; exercise-induced muscle damage, oxidative stress, inflammation; and cardiovascular function in healthy adults and (ii) to outline the experimental conditions in which POM supplementation is more or less likely to benefit exercise performance and/or recovery. Multiple electronic databases were used to search for studies examining the effects of POM intake on physiological responses during and/or following exercise in healthy adult. Articles were included in the review if they investigated the effects of an acute or chronic POM supplementation on exercise performance, recovery and/or physiological responses during or following exercise. The existing evidence suggests that POM supplementation has the potential to confer antioxidant and anti-inflammatory effects during and following exercise, to improve cardiovascular responses during exercise, and to enhance endurance and strength performance and post-exercise recovery. However, the beneficial effects of POM supplementation appeared to be less likely when (i) unilateral eccentric exercise was employed, (ii) the POM administered was not rich in polyphenols (<1·69 g/l) and (iii) insufficient time was provided between POM-ingestion and the assessment of physiological responses/performance (≤1 h). The review indicates that POM has the potential to enhance exercise performance and to expedite recovery from intensive exercise. The findings and recommendations from this review may help to optimise POM-supplementation practice in athletes and coaches to potentially improve exercise-performance and post-exercise recovery.
Bioassays using cell cultures and callus tissues of leafy spurge were devised to evaluate the potential of rhizobacteria as biocontrol agents. Rhizobacteria isolated from roots of leafy spurge seedlings were screened in suspension-cultured leafy spurge cells. Cell viability was assessed using the Evan's blue bioassay 48 h after bacterial inoculation. Among the 30 isolates tested, LS102 and LS105 consistently caused intensive cell death determined by measuring the A630 of the inoculated cell cultures. Cell death was 2.5 to 3 times higher in cultures inoculated with LS105 and LS102, respectively, than in the control. Population levels of the two isolates within cell cultures and callus tissues of leafy spurge increased during the first 48 h. Leafy spurge callus tissues were inoculated with rhizobacteria either directly or by using the Host Pathogen Interaction System (HPIS). The latter exposes calli to bacteria without any physical contact. LS102 caused cellular leakage and eventually death of the callus tissue. Callus growth was reduced by about 30 to 70% when exposed to LS102 and LS105, respectively. Results suggest that these two isolates may affect leafy spurge at the cellular level by different mechanisms. A screening method based on cell cultures and callus tissues offers a good and rapid technique for detecting deleterious rhizobacteria with potential as biocontrol agents for leafy spurge.
Including a multi-year collection of samples (2004–2011) the present research fills 20 years of an information gap regarding the PCB burden in south-west Atlantic franciscana dolphins (Pontoporia blainvillei) while aiming to test the null hypothesis that PCBs congeners are increasingly bioaccumulating in south-west Atlantic specimens in relation to northern hemisphere records. In addition, the present survey analyses indicators of potential biological impairment associated to PCBs tissue burden. The results could associate each sampling area group of dolphins to one or two Aroclor® patterns and point to dominant regional diffuse sources entering PCBs mixtures to the marine environment with a possible regional/long-range atmospheric contribution. In addition, total PCB levels were from four to seven times lower than the closer precedents for the area (18–26 years ago) indicating a progress in the environmental release and biota exposure of PCBs and posing an objective indicator of success of the present international elimination programme. Further, when compared with regional and global bioaccumulation patterns, PCBs congeners in Argentinean specimens appeared to occur in a decreasing tendency. Finally, calculated TEQs TCDD levels raised a concern in regards to environmental safety, showing guideline values to be widely exceeded and the occasional occurrence of positive correlations between PCBs bioaccumulation vs. sexual immaturity.
The life cycle of the parasitic copepod Lernaeocera branchialis involves 2 hosts, typically a pleuronectiform host upon which development of larvae and mating of adults occurs and a subsequent gadoid host, upon which the adult female feeds and reproduces. Both the copepodid and adult female stages must therefore locate and identify a suitable host to continue the life cycle. Several mechanisms are potentially involved in locating a host and ensuring its suitability for infection. These may include mechano-reception to detect host movement and chemo-reception to recognize host-associated chemical cues, or kairomones. The aim of this study was to identify the role of kairomones in host location by adult L. branchialis, by analysing their behaviour in response to fish-derived chemicals. Experiments demonstrated that water conditioned by immersion of whiting, Merlangius merlangus, elicited host-seeking behaviour in L. branchialis, whereas cod- (Gadus morhua) conditioned water did not. Lernaeocera branchialis are considered a genetically homogeneous population infecting a range of gadoids. However, their differential response to whiting- and cod-derived chemicals in this study suggests that either there are genetically determined subspecies of L. branchialis or there is some form of environmental pre-conditioning that allows the parasite to preferentially recognize the host species from which it originated.
Nanowires with different nitrogen concentrations were grown by Metal-Organic Chemical Vapor Deposition (MOCVD) using DEZn, N2O and NH3as zinc, oxygen and nitrogen doping sources respectively. Low temperature photoluminescence, Raman spectroscopy and Transmission Electron Microscopy are combined to study the incorporation of nitrogen in the wires. The observation of donor-acceptor pair band confirms that the incorporation nitrogen in ZnO nanowires is responsible for the creation of acceptor centers. The additional peaks observed in Raman are correlated to nano-sized inter-atomic distance fluctuations observed in TEM. These domains combined with a resonance effect are probably the explanation of the huge Raman cross section observed for the impurity related peaks.
This study is the first work on the reproductive biology of lessepsian bivalve Fulvia fragilis. Monthly and bimonthly samplings were made in the period from April 2006 to October 2007, at the Bay of Tunis (northern Tunisia). From histological preparations of gonad, a gametogenic scale was drawn up based on eight stages: sexual rest; initiation of gametogenesis; advanced gametogenesis; ripe; partial spawning; advanced spawning; restoration; and spent. After examination of gonad preparations, F. fragilis appeared to be a simultaneous hermaphrodite species. Spawning was continuous all along the year, scarce in winter and with peaks during the rest of the year. The spawning peaks were positively correlated with the rise of the sea surface temperature and the nutrient availability. Furthermore, the presence of oocytes surrounded by spermatozoa in female and male follicles and in male gonoducts was observed. Self-fertilization may occur in this species. High summer mortalities probably due to the combination of vulnerability of the bivalve in response to the reproductive effort and high temperature stress were recorded. The F. fragilis reproduction strategy explains the success of its installation on the Tunisian coast.
We derive a residual a posteriori error estimates for the subscales stabilization ofconvection diffusion equation. The estimator yields upper bound on the error which isglobal and lower bound that is local
The influence of the host plant of the cassava mealybug, Phenacoccus manihoti Matile Ferrero on the encyrtid parasitoid Apoanagyrus lopezi De Santis was studied in the laboratory. Four different host plants were used: two cultivars of cassava, Manihot esculenta (Euphorbiaceae), cv. Incoza and cv. MM79; Faux caoutchouc, a hybrid of M. esculenta × M glaziovii; and talinum Talinum triangularae (Portulacaceae), a common weed in cassava fields. Plants were selected for different levels of antibiotic resistance to P. manihoti. Mealybug mortality due to host feeding by the adult parasitoid and the percentage of mealybugs parasitized were significantly lower when mealybugs were reared on the Manihot cultivars and hybrid than when reared on talinum. However, the encapsulation rate was significantly lower in P. manihoti reared on talinum. The highest percentage parasitism and the lowest rate of emergence were recorded on cv. Incoza, the most resistant Manihot cultivar. The sex ratio did not vary significantly with the host plant used. The total developmental time and size of male and female progeny of A. lopezi differed significantly between P. manihoti reared on different host plants. Among Manihot plants, parasitoid size was positively correlated with development time and negatively with plant resistance. Results suggest that the parasitoid, A. lopezi, might perform better if cassava cultivars were selected for their strong antixenosis but low antibiotic characteristics.
This study focuses on the dynamics of copepod abundances and species composition in the upper water column of a marine outfall area Tso-Ying (T-Y) in the boundary waters of the north-eastern South China Sea and the Taiwan Strait as an example. Zooplankton samples were collected in March, June and September 2002. Mean copepod abundance at all stations ranged from a minimum of 9.4 (individuals m−3) in March to a maximum of 1685 (individuals m−3) in June. A total of 66 copepod species belonging to 31 genera and 19 families were identified during three cruises. Copepod assemblages were dominated by Temora turbinata which occurred in >97% samples with a relative abundance of 75.46% combining all three sampling cruises. The ordination diagram derived from non-metric multidimensional scaling separated samples on the basis of season and revealed that different sampling stations clustered differently during each cruise. The second and third most dominant species were Acrocalanus gracilis and Acrocalanus gibber, representing 1.73% and 1.65% of the total copepod abundance respectively. The outfall area studied here correlates with lower copepod densities represented by a few species that show a higher relative abundance in comparison with non-affected areas. We provide here the first example where plankton assemblages indicate useful information about environmental changes in the course of sewage disposal at a stable outlet site.