Papers by Basma Hadjkacem
Journal of the Arab Society for Medical Research /Journal of the Arab Society for Medical Research, 2023
European Journal of Pharmaceutical Sciences, Dec 31, 2023
European journal of lipid science and technology, Jun 20, 2024
Journal of Molecular Structure
act act act act In the United States, the elimination of operable windows is one of the greatest ... more act act act act In the United States, the elimination of operable windows is one of the greatest losses in contemporary architecture. Despite the increased transparency of the building envelope, our architecture is increasingly impermeable and disconnected from the world in which we live. Yet, this trend is not shared throughout the world. In Europe natural ventilation (and subsequently operable windows) has been rediscovered as one of several viable solutions to problems with indoor air quality. In contrast, many designers in the U.S. have increasingly turned to “mechanical solutions” to solve the same problems. Despite European trends toward natural ventilation, operable windows become the exception, rather than the norm, in contemporary architecture in the United States. There are complex challenges for window design if one is to balance energy, IAQ, comfort, and occupant control. This is particularly true in cold climates, where energy efficiency has lead to extremely tight buil...
Bernard Soulier Syndrome (BSS) is a rare inherited bleeding disorder caused by a quantitative or ... more Bernard Soulier Syndrome (BSS) is a rare inherited bleeding disorder caused by a quantitative or qualitative defect in glycoprotein (GP)Ib-IX-V complex, the receptor for the von Willebrand factor (vWF). This complex plays a major role in platelet adhesion at sites of vascular injurythrough binding to vWF. It is also involved in the thrombin induced platelet activation. BSS is usually inherited in an autosomal recessivemanner and is characterized by a prolonged bleeding time, thrombocytopenia, and giant platelets. Clinical manifestations include a series ofpurpura, epistaxis, menorrhagia, gingival, and gastric bleeding. Diagnosis is based on prolonged skin bleeding time, macrothrombocyto-penia, defective ristocetin-induced platelet aggregation, and the exploration of GPIb-IX-V complex expression. The complex is composed offour subunits: GPIba, GPIbb, GPIX, and GPV, but the principal candidate genes for this disease are GPIba, GPIbb, and GPIX. These genes areunique in the genome and s...
Journal of Thrombosis and Thrombolysis, Mar 1, 2011
Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden muta... more Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis. The prevalence of FVL varies according to geography and ethnicity. Hence, in several countries there is a difference in the frequency of this mutation between the southern, central and north. In Tunisia, no data is available about prevalence of FVL mutation by geographical origin. For this reason, we sought the prevalence of FVL mutation in blood donor of south Tunisia population. FVL has been detected by APCR-test and confirmed by PCR-RFLP and sequencing. Two hundred fifty blood donors, different in age and sex were included in this study to determine the prevalence of FVL in blood donors. FVL mutation was found in 13.6% of the studied population. Thirty-one were heterozygous and three persons were homozygous with a rate of 12.4 and 1.2%, respectively. In conclusion, FVL mutation is very common in south Tunisian population.
Annals of Hematology, 2009
• Check the metadata sheet to make sure that the header information, especially author names and ... more • Check the metadata sheet to make sure that the header information, especially author names and the corresponding affiliations are correctly shown. • Check the questions that may have arisen during copy editing and insert your answers/corrections. • Check that the text is complete and that all figures, tables and their legends are included. Also check the accuracy of special characters, equations, and electronic supplementary material if applicable. If necessary refer to the Edited manuscript. • The publication of inaccurate data such as dosages and units can have serious consequences. Please take particular care that all such details are correct. • Please do not make changes that involve only matters of style. We have generally introduced forms that follow the journal's style. Substantial changes in content, e.g., new results, corrected values, title and authorship are not allowed without the approval of the responsible editor. In such a case, please contact the Editorial Office and return his/her consent together with the proof. • If we do not receive your corrections within 48 hours, we will send you a reminder. Please note Your article will be published Online First approximately one week after receipt of your corrected proofs. This is the official first publication citable with the DOI. Further changes are, therefore, not possible.
Journal of Chromatography B, 2015
Glycocalicin (GC) is a large extracellular proteolytic fragment of glycoprotein Ib, a membrane pl... more Glycocalicin (GC) is a large extracellular proteolytic fragment of glycoprotein Ib, a membrane platelet component playing an essential role in the physiological processes of platelet adhesion and aggregation. GC contains the binding sites for thrombin and von Willebrand factor. GC circulates normally in vivo in significant concentrations and the plasma level of this protein reflects a complex function of factors including platelet count or platelet turnover. It can therefore serve as a good indicator for many diseases like hypoplastic thrombocytopenia and idiopathic thrombocytopenic purpura. For this reason, several purification assays have been previously described. In this work, we describe a novel analytical method for GC purification from human platelets based on preparative HPLC gel filtration followed by immuno-affinity chromatography on NHS activated column conjugated with specific antibody. Pure GC was obtained from tiny amount of starting material. Our protocol of GC purification is simple, fast and provides a pure end product.
Human Mutation, 2014
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by d... more Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.
Advances in the Study of Genetic Disorders, 2011
Journal of Thrombosis and Thrombolysis, 2011
Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden muta... more Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis. The prevalence of FVL varies according to geography and ethnicity. Hence, in several countries there is a difference in the frequency of this mutation between the southern, central and north. In Tunisia, no data is available about prevalence of FVL mutation by geographical origin. For this reason, we sought the prevalence of FVL mutation in blood donor of south Tunisia population. FVL has been detected by APCR-test and confirmed by PCR-RFLP and sequencing. Two hundred fifty blood donors, different in age and sex were included in this study to determine the prevalence of FVL in blood donors. FVL mutation was found in 13.6% of the studied population. Thirty-one were heterozygous and three persons were homozygous with a rate of 12.4 and 1.2%, respectively. In conclusion, FVL mutation is very common in south Tunisian population.
Hematology, 2013
Objectives: Human platelet-specific alloantigens (HPA) are polymorphic epitopes which vary among ... more Objectives: Human platelet-specific alloantigens (HPA) are polymorphic epitopes which vary among ethnic groups. Background: In Tunisia, HPA frequencies were determined in North and centre; however, the pattern of HPA in South Tunisian population is not been studied yet. The aim of this work was to determine allelic frequencies of HPA-1,-3, and-5 systems in south Tunisian population, in order to estimate the risk of anti-platelet alloimmunization and to create a register of HPA-typed blood donors. Methods: Our study concerned 212 unrelated healthy, regular blood donors from southern Tunisia. Allelic polymorphisms of each system were determined using a polymerase chain reaction with sequencespecific primers. Results: Genotype frequencies a/a, a/b, and b/b were, respectively, 0.670, 0.288, and 0.042 for HPA-1 system, 0.430, 0.462, and 0.108 for HPA-3 system, and 0.750, 0.241, and 0.009 for HPA-5 system. The allele frequencies were 0.814 and 0.186 for HPA-1a and-1b alleles; 0.660 and 0.340 for HPA-3a and-3b alleles and 0.870, and 0.130 for HPA-5a and-5b alleles. Discussion: The reported frequencies are more similar to those of Caucasians than those of north Tunisian population.
Annals of Hematology, 2009
• Check the metadata sheet to make sure that the header information, especially author names and ... more • Check the metadata sheet to make sure that the header information, especially author names and the corresponding affiliations are correctly shown. • Check the questions that may have arisen during copy editing and insert your answers/corrections. • Check that the text is complete and that all figures, tables and their legends are included. Also check the accuracy of special characters, equations, and electronic supplementary material if applicable. If necessary refer to the Edited manuscript. • The publication of inaccurate data such as dosages and units can have serious consequences. Please take particular care that all such details are correct. • Please do not make changes that involve only matters of style. We have generally introduced forms that follow the journal's style. Substantial changes in content, e.g., new results, corrected values, title and authorship are not allowed without the approval of the responsible editor. In such a case, please contact the Editorial Office and return his/her consent together with the proof. • If we do not receive your corrections within 48 hours, we will send you a reminder. Please note Your article will be published Online First approximately one week after receipt of your corrected proofs. This is the official first publication citable with the DOI. Further changes are, therefore, not possible.
Annals of Hematology, 2010
GPIbα, GPIbβ, and GPIX are three candidate genes for a rare genetic bleeding disorder named Berna... more GPIbα, GPIbβ, and GPIX are three candidate genes for a rare genetic bleeding disorder named Bernard Soulier syndrome (BSS). These genes are unique in the genome and encode for glycoprotein subunits of the GPIb-IX complex. Quantitative or qualitative deficiency in this complex is often associated with BSS. Here, we report the novel variant of BSS in which Ser23 of GPIbβ is substituted by a Stop codon causing a premature termination of translation, recently described in one family. This genetic defect is revealed in three unrelated BSS patients. The pedigree was determined for two families (F1 and F2) and revealed the homozygosity of the mutation in the two patients and its heterozygosity in parents. In the third family, the patient DNA was heterozygote with the same Ser23 Stop mutation in addition to two missense heterozygote mutations (Asp 51 Gly) and (Ala 55 to Pro). We studied the effect of the Ser23 Stop mutation on the expression of the complex. Our findings confirm that the identified GPIbβ mutation is responsible for the BSS phenotype and hampers the GPIb-IX complex to form on the platelets' surface. Regarding the scarcity of the BSS syndrome, the occurrence of the same mutation in three unrelated families would suggest a BSS founder mutation in Tunisia.
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Papers by Basma Hadjkacem