RESUMEN
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder characterized by impaired platelet aggregation due to defects in integrin αIIbß3, a fibrinogen receptor. Platelet phenotypes and allelic variations in 28 Turkish GT patients are reported. Platelets αIIbß3 expression was evaluated by flow cytometry. Sequence analyzes of ITGA2B and ITGB3 genes allowed identifying nine variants. Non-sense variation effect on αIIbß3 expression was studied by using transfected cell lines. 3D molecular dynamics (MDs) simulations allowed characterizing structural alterations. Five new alleles were described. αIIb:p.Gly423Asp, p.Asp560Ala and p.Tyr784Cys substitutions impaired αIIbß3 expression. The αIIb:p.Gly128Val substitution allowed normal expression; however, the corresponding NM_000419.3:c.476G>T variation would create a cryptic donor splicing site altering mRNA processing. The ß3:p.Gly540Asp substitution allowed αIIbß3 expression in HEK-293 cells but induced its constitutive activation likely by impairing αIIb and ß3 legs interaction. The substitution alters the ß3 I-EGF-3 domain flexibility as shown by MDs simulations. GT variations are mostly unique although the NM_000419.3:c.1752 + 2 T > C and NM_000212.2:c.1697 G > A variations identified in 4 and 8 families, respectively, might be a current cause of GT in Turkey. MD simulations suggested how some subtle structural variations in the ß3 I-EGF domains might induce constitutive activation of αIIbß3 without altering the global domain structure.
Asunto(s)
Integrina alfa2 , Integrina beta3 , Complejo GPIIb-IIIa de Glicoproteína Plaquetaria , Trombastenia , Factor de Crecimiento Epidérmico , Células HEK293 , Humanos , Integrina alfa2/genética , Integrina beta3/genética , Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/metabolismo , Trombastenia/genética , Trombastenia/metabolismo , TurquíaRESUMEN
PURPOSE: The objective of this study was to assess the effects of concha bullosa variation on maxillary sinus volume and uncinate angle. METHOD: The study group included 169 patients (338 sides) who underwent either surgical or medical treatment with the diagnosis of chronic rhinosinusitis. The paranasal sinus computed tomography of these patients was analyzed to measure maxillary sinus volume, uncinate angle and existence of concha bullosa. Subsequently, these variables were evaluated to find out possible relationship inbetween. RESULTS: Mean maxillary sinus volume and uncinate angle at right and left sides were 15.21 ± 0.47 and 15.51 ± 0.48 mm(3), 30.57 ± 0.62° and 30.20 ± 0.68°, respectively. There was no difference between patients with or without concha bullosa in regard to maxillary sinus volume and uncinate angle at both sides. Maxillary sinus volume and degree of uncinate angle did not show any significant correlation at both sides; r = -0.124, p = 0.107 and r = -0.136, p = 0.078. CONCLUSION: In conclusion, concha bullosa is a common anatomical variation at nasal cavity. The existence of concha bullosa does not have any association with the volume of maxillary sinus and angle of uncinate process.
Asunto(s)
Seno Maxilar/diagnóstico por imagen , Sinusitis/diagnóstico por imagen , Cornetes Nasales/diagnóstico por imagen , Adulto , Variación Anatómica , Femenino , Humanos , Masculino , Tabique Nasal/diagnóstico por imagen , Senos Paranasales/diagnóstico por imagen , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
ABSTRACT Objective: To discuss cerebral sinovenous thrombosis (CSVT), an important mortality and morbidity factor, developing in the progression of ulcerative colitis (UC) in childhood age, in the light of the literature. Methods: A search of PubMed and Google Scholar database was conducted on April 2014. This study retrospectively investigates the cases diagnosed with UC with complication of CSVT below 18 years of age between years 1971 and 2014. The cases were analysed with respect to age, gender, disease duration and treatment, potential risk factors, clinical findings, location of thrombosis, thrombolytic therapeutical applications, and clinical progressions. Results: Twenty-four paediatric patients aged 5 and 18 years were included in the study. Cerebral sinovenous thrombosis had developed during active disease period in 23 (95.8%) patients. The most common complaints were headache (79.1%) and emesis (29.1%). The most frequently detected risk factors for CSVT were anaemia (58.3%) and thrombocytosis (45.8%). Inherited thrombotic disorders were encountered in 10 (41.6%) of the cases. The most common location sites for CSVT were the transverse (33.3%) and the sigmoid (33.3%) sinuses. It had been discovered that 19 (79.2%) of the cases were healed completely without a sequelae, whereas neurological sequelae remained in three (12.5%) of the cases and two (8.3%) of the cases died. Conclusion: In the presence of a prior diagnosis of UC and emergency presentation with emesis, headache, mood changes and particularly seizure, the presence of CSVT should certainly be considered.