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Background: Osteosarcoma is a rare malignant tumor of the mesenchymal tissue that accounts for 5% of all malignant tumors in children and teenager. The purpose of our study was to describe the epidemiological and evolutionary characteristics of osteosarcoma in Tunisia. Methods: It's a retrospective study performed in the Oncology Department of Salah Azaiez Institute from January 1980 to December 2016. We analyzed records of 200 cases of patients with primary high-grade osteosarcoma. Results: The mean incidence was 6 cases per year. The mean age at the time of diagnosis was 19 years with a slight male predominance (55%). The distribution had a single peak during adolescence and a plateau during adulthood. The average consultation period was 3.4 months. The most common reasons for consultation were the pain (82%), followed by swelling (74%), trauma (10%), fracture (6.5%), and functional impairment (5.5%). Mean tumor size was 11 cm. Preferred site was long bones in young patients and flat bones in elderly ones. Common osteosarcoma was the most frequent (85%). Overall survival and progression-free survival at 5 years were respectively 78% and 90.5%. Conclusion: In summary, this study is a large national population-based incidence report of osteosarcoma in Tunisia.

Given the negative role of problematic use of new technological devices (NTD) in behavioral and psychological domains, the aim of the study is the Italian adaptation and validation of the Internet Motive Questionnaire for Adolescents (IMQ-A) in order to understand the motivation for the use of NTD. A total of 769 students 10–19 aged (M = 13.22, SD = 1.56) completed the IMQ-A, the Collins Figures Rating Scale, and two measures regarding the problematic NTD use, focused on overuse during the night and during meals. The IMQ-A showed adequate internal consistency with regard to its four subscales: Coping (α = .84), Social (α = .80), Enhancement (α = .80), and Conformity (α = .68) motives. However, with regard to factorial structure, a threefactor model (excluding Conformity subscale) showed slightly better fit indices than the original model. Coping motive was correlated with problematic NTD use and succeeded in predicting higher scores in body dissatisfaction as evidence of criterion-related and external validity. The Italian adaptation of the IMQ-A can be useful in both research and clinical fields, in order to propose alternative strategies for coping to users and to improve emotion regulation facets.

En Tunisie, les marques de distributeurs sont caractérisées par une présence dans peu de catégories de produits alimentaires,une faible notoriété et des parts de marché modestes. Cette recherche se propose donc d'étudier l'attitude et le comportement du consommateur à l'égard des marques de distributeurs alimentaires "MDDA" sur la base d'une enquête auprès des consommateurs. Une analyse en composante principale et une classification des consommateurs par la méthode des nuées dynamiques ont été développées. Un modèle de régression binomiale a été estimé pour expliquer la décision d'achat des MDDA. Trois classes de consommateurs ont été identifiées : les sensibles aux promotions et à la diversité de l'offre, ceux influencés par l'image de l'enseigne et les sensibles à l'image des MDDA. Les facteurs déterminant l'achat des MDDA sont la "notoriété" et la "perception" des MDDA avec uneffet positif sur les achats d'où la nécessité d'un grand effort de communication pour recruter de nouveaux consommateurs. Ce ciblage devrait se baser sur l'âge et la taille de ménage, qui sont les facteurs socio-démographiques ayant un effet positif sur les achats des MDDA. En effet, la probabilité d’achat des MDDA augmente chez les consommateurs âgés de plus que 45 ans et de manière proportionnelle à la taille des ménages. En revanche, la fidélité à une enseigne de distribution particulière et la sensibilité des consommateurs aux promotions des ventes a un effet négatif sur la probabilité d’achat des MDDA

In Sri Lanka, the various groups of Tamils are jointly the largest minority group who migrated from different places of South India and in different time periods. South Indian music is widely appreciated and learnt by both the Sinhala including by large parts of the Tamil minority spread over Sri Lanka. Although a number of Sinhala people prefer and practice North Indian music geographically, and probably culturally, they are much closer to South India than to North India. Some historical sources report that Sinhalese are descendants of North Indians who are believed to be Aryans who migrated from Persia to the Northern part of India in the 13th century and later. Therefore, some scholarly authorities believe that the Sinhalese ‘naturally’ prefer North Indian music as they also continue the suggested Aryan heritage. Nevertheless, some other sources reveal that the North Indian music was spread in Sri Lanka during the British rule with the coming of the Parsi Theatre (Bombay theatre), which largely promoted Hindustani raga-based compositions. This paper explores selected literature and opinions of some interviewees and discusses what could be the reasons for preferences of North Indian music by the Sinhalese. The interviewees were chosen according to their professional profile and willingness to participate in this research. As a result, this paper will offer insights through analysing various opinions and statements made by a number of interviewees. The research also considered some theories which may relate to the case whether Hindustani classical music is due to these reasons a dominating minority culture or a rather self-imposed musical ideology. The latter would establish an aesthetic hierarchy, which is not reflected in the cultural reality of Sri Lanka. This is a new research scrutinizing a long-term situation of performing arts education in this country taking mainly interviews as a departing point.

Introduction: Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care.Methods: Clinical and biochemical data were retrospectively collected in 15 HoFH patients (10 with mutations in the LDLR gene and 5 in the LDLRAP1 gene) treated for at least 6 months with lomitapide in addition to lipid-lowering therapies (LLT) in different Lipid Clinics across Italy.Results: The mean follow-up period was 32.3 ± 29.7 months. During background therapies, HoFH patients showed a mean LDL-C level of 426.0 ± 204.0 mg/dl. The addition of lomitapide at the average dosage of 19 mg/day lowered LDL-C levels by 68.2 ± 24.8%. At their last visit, 60% of patients showed LDL-C <100 mg/dl and 46.6% <70 mg/dl. During follow-up, 8 of 10 patients receiving LA (80%) stopped this treatment due to marked LDL-C reduction. A wide range (13-95%) of individual LDL-C reduction was observed, but this was not related to genotype. During follow-up, 53.3% of patients reported at least one episode of diarrhea, but none was referred as severe; none had liver transaminase >5× ULN or had to stop treatment due to side effects. A subset of patients was evaluated by liver ultrasound and fibroscan (n = 5) or nuclear magnetic resonance with spectroscopy (MRS) (n = 1) not showing clinical evidence of liver damage.Conclusion: In this real-world experience, lomitapide was confirmed to be a very powerful cholesterol-lowering agent in HoFH showing a good safety profile. [ABSTRACT FROM AUTHOR]

Gold nanoparticles (GNP) with different sizes from commercially available colloids were deposited based on destabilization using HF acid onto porous silicon (PS) substrate formed by an electrochemical process. We studied the controlling factors and conditions of the size, morphology and distribution, further, the influence of gold colloid on porous silicon characteristics have been investigated. The variation of the surfaces' roughness and morphology after noble metal modification was exhibited by atomic force microscopy (AFM), while, Fourier Transform Infrared (FTIR) characterization techniques proved the oxidation of porous silicon substrate, hence, the passivation of the surface states. It was also observed that the reflectivity decreased due to the deposition process according to the size and the quantity of gold colloid solution. Moreover, the photoluminescence (PL) spectroscopy revealed that the intensity strongly depend on gold nanoparticles deposition. These are attributed to metal nanoparticles with narrow particle-size distribution uniformly coated on the surface, thus, the substrate efficiency is strictly related to their dispersion, which could yield to local surface plasmons (LSP).

Abstract Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection was performed by sequencing the whole F7 gene coding region, exon-intron boundaries and about 400 bp of the promoter region. We identified 5 mutations in five unrelated families; the novel p.F328Y mutation and the reported mutations: p.R304Q, p.M298I, IVS1aG > A and p.G-39G. For the remaining 5 patients we didn’t identified any mutations using PCR/Sequencing protocol. In conclusion, this study represents the first comprehensive molecular series of FVII deficiency affected patients in Tunisia from the North. We will try in the future to continue the molecular study for Tunisian patients from Center and South provinces in order to have a complete idea about the FVII deficiency mutational profile in our country. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085

Abstract Introduction Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. Molecular studies of these mutations are essential in order to reinforce our understanding of their pathogenic effect responsible for the disorder. Aim In this study we have performed molecular analysis of 28 Tunisian hemophilia A patients and analyzed the F8 mutation spectrum. Methods We screened the presence of intron 22 and intron 1 inversion in severe hemophilia A patients by southern blotting and polymerase chain reaction (PCR). Detection of point mutations was performed by dHPLC/sequencing of the coding F8 gene region. We predict the potential functional consequences of novel missense mutations with bioinformatics approaches and mapping of their spatial positions on the available FVIII 3D structure. Results We identified 23 different mutations in 28 Tunisian hemophilia A patients belonging to 22 unrelated families. The identified mutations included 5 intron 22 inversions, 7 insertions, 4 deletions and 7 substitutions. In total 18 point mutations were identified, of which 9 are located in exon 14, the most mutated exonic sequence in the F8 gene. Among the 23 mutations, 8 are novel and not deposited in the HAMSTeRS database nor described in recently published articles. Conclusion The mutation spectrum of Tunisian hemophilia A patients is heterogeneous with the presence of some characteristic features. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1693269827490715

Abstract Background The development of inhibitors against factor 8 (F8) is the most serious complication of replacement therapy with F8 in children with severe hemophilia. It was suggested that mismatched F8 replacement therapy may be a risk factor for the development of anti-factor F8 alloantibodies. Recently four single nucleotide polymorphisms (SNPs) encoding six distinct haplotypes, designated H1 through H6, were studied in different populations. Two SNPs are components of the A2 and C2 immunodominant-inhibitor epitopes. The aim of this study is to determine the different types of haplotypes in relation with inhibitors developments and their frequencies in our Tunisian hemophiliac population. Materials and methods 95/116 Tunisian patients with hemophilia A undergoing treatment at Hemophilia Treatment Center, Aziza Othmana hospital, participate in this study. Among them only six patients develop inhibitors. The four SNPs were amplified and sequenced. Results and Discussion In a total of 77 patients, we identified the H1, H2, H3 and the infrequent H5 haplotypes. The H1 and H2 haplotypes, which have the same amino acid sequence in the recombinant F8 molecules used clinically, are the most represented with the frequency of 0.763 and 0.157 respectively. This distribution is almost similar to that of Caucasians in which the frequencies are respectively 0.926 and 0.074, whereas it is 0.354 and 0.374 among Subsaharians. Four patients with inhibitors studied here have the H1 haplotype. For one patient who has a large deletion including the exon 10 we can't identify his haplotype. Theses frequencies may explain partially the low level of inhibitors in our patients.

This essay treats the figure of the architect and draftsman Luigi Balugani: specifically his training and his first professional activity, documented in Bologna and in Rome. Balugani’s name is known on account of his association with the archaeological and naturalistic expedition to Africa and to the Middle East led in 1765 by the Scott James Bruce of Kinnaird, in which Balugani took part as a draftsman. As regards his professional training, Balugani gained experience in the Bolognese context of the Accademia Clementina in the 1750s, an academic experience representative of the background of many architects, not only in Bologna. Luigi Ferdinando Marsili was the founder of the Institute of Sciences and Arts, that incorporated the Accademia Clementina. Due to his interdisciplinary organization of the course of studies, and following the twenty years of teaching at the Academy by Ferdinando Galli Bibiena, the academic program of the Institute came to include the study of subjects such as measurement, architectonic composition and perspective, while leaving out the practical aspects of architecture. It is no coincidence that most of Balugani’s documented experiences, both in Bologna and in Rome, where he moved in 1761 to improve his studies, centre on drawing and engraving, which he learnt at the Accademia.

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Sleep-related painful erection (SRPE) is a parasomnia defined by the repetition of painful erections during rapid eye movement (REM) sleep. Hypnic headache (HH) is a primary headache occurring exclusively at night, often during REM sleep. We report the observation of a 33-year-old man with simultaneous SRPE and HH. Physical examination was normal. Comprehensive urological and endocrine explorations excluded other organic differential diagnoses. Polysomnography revealed several awakenings in REM, due to SRPE and concurrent HH. Medication by baclofen at bedtime seemed to have resulted in a decrease in SRPE episodes, confirmed by polysomnography, but at the cost of excessive daytime sleepiness, and was discontinued by the patient. Caffeine intake at bedtime was proposed, but the patient was reluctant because he was concerned about worsening insomnia. At 9-month follow-up, the patient had accepted his medical condition and was coping with both SRPE and HH. He felt reassured and wished no "overmedicalization." To our knowledge, the coexistence of both conditions has not yet been reported, yet their frequencies might be underestimated. We hypothesize a common underlying pathophysiology with a possible dysfunction of the vascular control and/or the autonomic nervous system and that could involve the hypothalamus. Somnologists should be aware of SRPE, potentially overlapping with HHs. SRPE should be considered in case of sleep-maintenance insomnia. Patient reassurance seems to be central in the care process of SRPE., Citation: Moreau A, Monnier L, Medde A, Bourgin P, Ruppert E. Images: sleep-related painful erection with concomitant hypnic headache. J Clin Sleep Med . 2024;20(5):837-839., (© 2024 American Academy of Sleep Medicine.)