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Jordanian Patients (jordanian + patient)
Selected AbstractsStudy of mutations in Jordanian patients with haemophilia A: identification of five novel mutationsHAEMOPHILIA, Issue 1 2010A. AWIDI Summary., Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the factor VIII gene (F8), which encodes factor VIII (FVIII) protein, a plasma glycoprotein, that plays an important role in the blood coagulation cascade. In the present study, our aim was to identify F8 gene mutations in HA patients from Jordan. One hundred and seventy-five HA patients from 42 unrelated families were included in this study. Among these patients, 117 (67%) had severe HA, 13 (7%) had moderate HA and 45 (26%) had mild HA. Severe patients were first tested for intron-22 inversion using long range polymerase chain reaction (PCR), then negative patients were tested for intron-1 inversion using PCR. Sequencing for the entire F8 gene was performed for all severe HA patients who were found negative for intron-22 and -1 inversions and it was also performed for moderate and mild HA patients. HA causative mutations were identified in all patients. Intron-22 and -1 inversions were detected in 52% and 2% of families respectively. Beside these two mutations, 19 different mutations were identified, which include 15 missense and four frameshift mutations. Five novel mutations were identified including one frameshift and four missense mutations. No large deletions or nonsense mutations were detected in patients who participated in this study. Only 17 patients with severe HA were found positive for FVIII inhibitors. The data presented will play an important role for genetic counselling and health care of HA patients in Jordan. [source] Dental arch morphological and dimensional characteristics in Jordanian children and young adults with ,-thalassaemia majorINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 2 2005A. AL-WAHADNI Summary. Objective. , The aim of this study was to examine the arch dimensions of Jordanian patients with ,-thalassaemia major in comparison with an unaffected control group. Methods. , The sample consisted of 24 patients who suffered from ,-thalassaemia major (mean age = 13·9 ± 3·1 years) and an unaffected control group (mean age = 13·5 ± 2·9 years) matched for dental age, sex, and incisor and molar relationships. The unaffected control group was randomly selected from four public schools in the Governate of Irbid-Jordan. Alginate impressions were taken of the maxillary and mandibular dental arches of all participants. All measurements of the arch dimensions were made on the casts using an electronic digital sliding calliper. Results. , In the mandibular arch, when compared with the patients with thalassaemia, the unaffected control group subjects showed a (statistically) significantly larger incisor width, larger arch depth, and larger left and right anterior arch lengths (1·18, 2·58, and 1·85 and 1·12 mm, respectively). In the maxillary arch, there was a statistically significant difference in the mean incisor width (± 2·16 mm), arch depth (± 3·14 mm), inter-molar width (± 1·21 mm) and in the left anterior arch length (± 1·97 mm). The canine widths, premolar widths, left and right posterior arch length, and curve of Spee of both arches showed no statistically significant differences between the two groups. Conclusion. , When compared to unaffected subjects, patients with ,-thalassaemia major exhibited: a narrower maxilla; a shorter maxilla and mandible; and smaller incisor widths for the maxillary and mandibular arches. [source] Craniofacial morphology in patients with hypophosphataemic vitamin-D-resistant rickets: a cephalometric studyJOURNAL OF ORAL REHABILITATION, Issue 7 2009S. H. AL-JUNDI Summary, Hypophosphataemic vitamin-D-resistant rickets (HVDRR) is a hereditary disease mainly transmitted as an X-linked dominant trait and characterized by certain general clinical signs (Filho HM, de Castro LC, Damiani D. Arq Bras Endocrinol Metab. 2006;50:802). In literature, only one study had been published in 1965 on the cephalometric findings in patients with HVDRR (Marks SC, Lindahl RL, Bawden JW. J Dent Child. 1965;32:259). This is the first detailed study on craniofacial characteristics of patients with HVDRR in the dental literature. The aim of this study was to determine the effect of HVDRR on the parameters of the craniofacial skeleton of young Jordanian patients using cephalometric analysis. Lateral cephalometric radiographs were made for 22 Jordanian children (aged 2,16 years) diagnosed with HVDRR. The cephalometeric parameters of HVDRR group were compared with those of normal control group matched for gender and chronological age using paired t -test. The HVDRR group had a significant increase in the SNBa angle (P < 0·01); as well as reduced anterior cranial base length (P = 0·01), reduced maxillary length, corpus mandibular length and mandibular height (P = 0·01, 0·04 and 0·008 respectively). The cranial base and gonial angles were significantly increased in diseased individual, but the SNA and ANB angles were significantly reduced (P = 0·018 and 0·000 respectively). The angulation of the lower incisor to mandibular plane was also significantly reduced in the diseased group compared with Jordanian norm (P = 0·004). Patients with HVDRR have deficiency in the anterior cranial base length, ramus height and cranial base angle. Patients with HVDRR also have class III skeletal relationship. [source] A 13-bp deletion in ,IIb gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombastheniaJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 12 2005N. ROSENBERG Summary. Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder caused by lack or dysfunction of ,IIb,3 in platelets. GT is relatively frequent in highly inbred populations. We previously identified a 13-bp deletion in the ,IIb gene that causes in-frame deletion of six amino acids in three Palestinian GT patients. In this study, we determined the molecular basis of GT in all known Palestinian patients, examined whether Jordanian patients harbor the same mutations, analyzed whether there is a founder effect for the 13-bp deletion, and determined the mechanism by which the 13-bp deletion abolishes ,IIb,3 surface expression. Of 11 unrelated Palestinian patients, eight were homozygous for the 13-bp deletion that displayed common ancestry by haplotype analysis, and was estimated to have occurred 300,600 years ago. Expression studies in baby hamster kidney cells showed that substitution of Cys107 or Trp110 located within the deletion caused defective ,IIb,3 maturation. Substitution of Trp110, but not of Cys107, prevented fibrinogen binding. The other Palestinian patients harbored three novel mutations: G2374 deletion in ,IIb gene, TT1616-7 deletion in ,3 gene, and IVS14: ,3C , G in ,3 gene. The latter mutation caused cryptic splicing predicting an extended cytoplasmic tail of ,3 and was expressed as dysfunctional ,IIb,3. None of 15 unrelated Jordanian patients carried any of the described mutations. [source] | ||||||||||