186 research outputs found
Reading and Translating Gramsci in the 70s
No full textThis is the Abstract of the English-language article by Fawwaz Traboulsi on the history, starting from the 1960s and 1970s of the translation into Arabic of Gramsci and its subsequent diffusion and influence. The author looks at the way in which currently neoliberalism has been changing political language in the attempt to bend it to its own purposes
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
No full textShawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome
No full textWe have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl-asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. © 2014 The American Society of Human Genetics.Alkuraya FS, 2010, GENET MED, V12, P765, DOI 10.1097-GIM.0b013e3181fbfcc4; Alkuraya F.S., 2012, CURR PROTOC HUM GENE, P12; Alkuraya FS, 2013, HUM GENET, V132, P1197, DOI 10.1007-s00439-013-1344-x; Dagoneau N, 2004, AM J HUM GENET, V75, P801, DOI 10.1086-425231; Dinchuk JE, 2002, J BIOL CHEM, V277, P12970, DOI 10.1074-jbc.M110389200; Haddad R, 2001, AM J MED GENET, V99, P185, DOI 10.1002-1096-8628(2001)9999:9999::AID-AJMG11563.0.CO;2-V; Hewitson KS, 2005, PHILOS T ROY SOC A, V363, P807, DOI 10.1098-rsta.2004.1540; Lachke SA, 2012, INVEST OPHTH VIS SCI, V53, P1617, DOI 10.1167-iovs.11-8839; Mansour Ahmad M, 2013, Case Rep Ophthalmol, V4, P84, DOI 10.1159-000350951; Morales J, 2009, AM J HUM GENET, V85, P558, DOI 10.1016-j.ajhg.2009.09.011; Schofield CJ, 2004, NAT REV MOL CELL BIO, V5, P343, DOI 10.1038-nrm1366; Shawaf S, 1995, OPHTHALMIC GENET, V16, P163, DOI 10.3109-13816819509057858; Sheffield VC, 2011, NEW ENGL J MED, V364, P1932, DOI 10.1056-NEJMra1012354; STENFLO J, 1988, J BIOL CHEM, V263, P21; Wawersik S, 2000, HUM MOL GENET, V9, P917, DOI 10.1093-hmg-9.6.917; Wouters MA, 2005, PROTEIN SCI, V14, P1091, DOI 10.1110-ps.0412070051
Is body fat percentage a good predictor of menstrual recovery in females with anorexia nervosa after weight restoration? A systematic review and exploratory and selective meta-analysis
No full textThe resumption of menses (ROM) is an important outcome in anorexia nervosa treatment and is considered as a sign of recovery. Identification of relevant factors in its prediction is important in clinical practice. Therefore we aimed to conduct a systematic review and exploratory meta-analysis of the association between total body fat percentage (¿) and ROM after weight restoration in adolescents and young adults with anorexia nervosa. The study was conducted by adhering to Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. Data were collated using meta-analysis and a narrative approach. Of the 604 articles retrieved, only seven studies comprising a total of 366 adolescent and young adult females with anorexia nervosa met the inclusion criteria and were reviewed, and preliminary results revealed three main findings. Firstly, patients who resumed their menstrual cycle had a significantly higher mean ¿ when compared to those who did not, an overall effect confirmed by the meta-analysis (SMD: 3.74, 95% CI: 2.26–5.22). Secondly, ¿ was found to be an independent predictor of the ROM in this population and an increase of only one unit of ¿ can increase the odds of menstruation by ≈15–20%. Thirdly, despite the paucity of data, a cut-off point of ¿≈21was suggested as the minimum needed for ROM. In conclusion, a higher ¿ seems to be associated with the ROM in weight-restored adolescent and young adult females with anorexia nervosa. Its assessment is important in a clinical setting, especially after complete weight restoration. The PROSPERO Registry – A systematic review and meta-analysis of the factors associated with the resumption of the menstrual cycle in females with anorexia nervosa after weight restoration (CRD42019111841)
Body composition in adolescents and young adults with anorexia nervosa: A clinical review
No full textBackground: Anorexia nervosa is a serious health condition characterized by a significant low body weight and alteration in body composition components. Aim: In the current paper, we aim to summarize the available literature concerning changes in body fat, lean, and bone masses, during anorexia nervosa and after complete weight restoration. Methods: Data were summarized using a narrative approach based on clinical expertise in the interpretation of the available evidence base in the literature. Results: The available data revealed three main findings. Firstly, anorexia nervosa causes a significant reduction in body fat mass, however it is completely restored after short-term weight normalization but with a central adiposity phenotype that does not seem to negatively influence treatment outcomes and appears to normalize after 1 year of normal weight maintenance. Secondly, anorexia nervosa causes a significant reduction in bone mineral density, but weight restoration is associated first (≈12 months) with stabilization of bone mineral density, followed by improvements (after ≈16 months); and finally, with complete normalization (after ≈30 months) after normal-weight maintenance. Thirdly, during anorexia nervosa loss of lean and skeletal body mass occurring in particular from the extremities rather than the central regions has been consistently reported, especially in patients with a Body Mass Index (BMI) ≤ 16.5 Kg/m2 however short-term weight restoration is associated with complete normalization. Conclusion: Anorexia nervosa adversely affects body composition, however this medical complication seems to be reversible through the main treatment strategy of body weight restoration followed by normal weight maintenance, and this should be openly discussed with patients
Bahia. I figli della Piazza
No full textTraduzione dal francese del romanzo di Yasmina Traboulsi "Les enfants de la Place", Mercure de France, 2003. (traduzione e note
Ocular findings in Gillespie-like syndrome: Association with a new PAX6 mutation
No full textBackground: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. Case report: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 + 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrom
Rooftop level rainwater harvesting system
No full textUnfortunately, in Lebanon and other countries in the Middle East region, water becomes scarcer than ever before, and over the last decades the demand on domestic water has increased due to population and economic growth. Although rainwater harvesting is considered to be a safe and reliable alternative source for domestic water, the inconvenience or impracticalities related to the cost and space needed for the construction of ground or underground storage tanks makes this practice not widely common in rural areas and rarely implemented in urban cities. This paper introduces a new technique to rainwater harvesting which can be easily used in both rural and urban areas: it collects and stores rainwater directly in tanks already installed on building roofs and not necessarily in special ground or underground ones. If widely adopted in Lebanon, this technique could help in: (1) collecting around 23 MCM (70 % of the current deficit in the domestic water supply) of rainwater and thus increasing the available water per m2 of building by 0.4 m3 per year, (2) saving around 7 % of the amount of electric energy usually needed to pump water from an aquifer well and ground or underground tank, and (3) considerably reducing the rate of surface runoff of rainwater at the coastal zones where rainwater is not captured at all and goes directly to the sea. © 2015, The Author(s)
Catastrophic aortic thrombosis due to Toxocara infection
No full textToxocariasis, a common helminthozoonosis with a worldwide prevalence, usually manifests as 'visceral larva migrans' (VLM). Among its wide range of clinical presentations, large vessel thrombosis has never been described before. We report a case of aortic thrombosis caused by Toxocara canis infection in a young male who was successfully treated with albendazole.BHATIA V, 1994, AM J GASTROENTEROL, V89, P624; DESAVIGNY DH, 1979, J CLIN PATHOL, V32, P284, DOI 10.1136-jcp.32.3.284; GLICKMAN LT, 1979, T ROY SOC TROP MED H, V73, P254, DOI 10.1016-0035-9203(79)90077-4; Hamidou MA, 2002, ARCH INTERN MED, V162, P1521, DOI 10.1001-archinte.162.13.1521; JACQUIER P, 1991, J CLIN MICROBIOL, V29, P1831; KANAFANI ZA, 2006, PARASITOLOGY, V132, P1; Kayes SG, 1997, CHEM IMMUNOL, V66, P99; KENNEDY MW, 1987, PARASITE IMMUNOL, V9, P407, DOI 10.1111-j.1365-3024.1987.tb00519.x; ROIG J, 1992, CHEST, V102, P294, DOI 10.1378-chest.102.1.294; Safar E. H., 1995, Journal of the Egyptian Society of Parasitology, V25, P839; SOMMER C, 1994, J NEUROL NEUROSUR PS, V57, P229, DOI 10.1136-jnnp.57.2.229; TAYLOR MRH, 1988, LANCET, V1, P69222
Readings of Gramsci in and on the Arab Countries in the 2000s
No full textThis is the Abstract of the article in English by Alessandra Marchi on the recent presence of Gramsci in the Arab countries (MENA).This is the Abstract of the English-language article by Fawwaz Traboulsi on the history, starting from the 1960s and 1970s of the translation into Arabic of Gramsci and its subsequent diffusion and influence. The author looks at the way in which currently neoliberalism has been changing political language in the attempt to bend it to its own purposes
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