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| 1 | Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula:A case report and review of literature显示文摘BACKGROUND Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula,although the consanguineous marriage rate is very high.We report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS gene.CASE SUMMARY A 33-year-old man presented to our neurology clinic with balance problems and weakness of distal upper and lower limbs.He was previously clinically diagnosed with Friedreich's ataxia.However,the severity of polyneuropathy and the electrodiagnostic studies(EDX)findings are atypical features of Friedreich’s ataxia,and the deterioration was attributed to diabetic neuropathy.Close examination of other family members identified cerebellar ataxia,lower-limb pyramidal signs,peripheral neuropathy,and magnetic resonance imaging findings characterized by pontine linear hypointensities.Genetic testing for Friedreich’s ataxia did not yield a diagnosis.Whole exome sequencing identified a novel frameshift germline mutation in the SACS gene termed c.5824_5827delTACT using the transcript NM_014363.5,which is predicted to cause premature termination of the sacsin protein at amino acid position 1942(p.Tyr1942Metfs*9)and disrupts the sacsin SRR3 and domains downstream from it.The mutation segregated with the disease in the family.CONCLUSION Our data add to the spectrum of mutations in the SACS gene and argues for a need to implement suitably integrated clinical and diagnostic services,including next generation sequencing technology,to better classify ataxia in this area of the world. | Abdullah Al-Ajmi Sarah Shamsah Aleksandar Janicijevic Michayla Williams Fahd Al-Mulla | 2020 | World Journal of Clinical Cases2020，8，8： | 2 |
| 2 | Modified local diatomite as potential functional drug carrier-A model study for diclofenac sodium显示文摘 | Janicijevic J Krajisnik D Calija B | 2015 | International journal of pharmaceutics2015，，： | 1 |
| 3 | The molecular machines of DNA repair:scanning force microscopy analysis of their architecture显示文摘 | Janicijevic -A Ristic -D Wyman -G | 2003 | J-Microsc2003，212，3： | 1 |
| 4 | Myocardial me- chanical and QTe dispersion for the detection of significant coro- nary artery disease 显示文摘 | Stankovic I Putnikovie B Janicijevic A | 2015 | Eur Heart J Cardiovasc Imaging2015，16，9： | 1 |
| 5 | Galectin-3 mediated risk of inflammation in stable schizophrenia,with only possible secondary consequences for cognition显示文摘BACKGROUND Evidence suggests that cytokines cause immune disturbances,shape immunological sequelae later in life,and modulate the risk of schizophrenia(SC).Galectin-3(Gal-3),a multifaceted molecule of the glycan family,is involved in the formation of the immunological synapse and modulates the signalling pathway and effector functions of T lymphocytes,which are major producers of cytokines.We have previously reported elevated serum Gal-3 levels in stable SC patients.However,Gal-3 as a link between cognitive functioning and inflammation has not yet been investigated in SC.AIM To investigate the relationship between serum Gal-3 levels and cognitive performance,serum cytokines,and white blood cell count in three-month stably treated SC patients.METHODS Twenty-seven patients with SC in remission and 18 healthy volunteers participated in this casecontrol and correlational study.Clinical assessment was performed using the Positive and Negative Syndrome Scale and the Montreal-Cognitive Assessment.The results of previously measured serum levels of Gal-3,interleukin(IL)-33,soluble suppression of tumorigenicity 2(sST2),tumor necrosis factor-alpha(TNF-α),IL-6 and IL-17 were used for further statistical analyses,and IL-4,IL-23,IL-1βand transforming growth factor-beta(TGF-β)were now additionally measured with a sensitive enzyme-linked immunosorbent assay.The number of leukocytes in the blood and the percentage of neutrophils,lymphocytes,and monocytes were determined with a standardized routine measurement procedure(Sysmex Technology).Statistical analyses were performed using SPSS 20.0 software.RESULTS We found no correlation between serum Gal-3 levels and cognitive functioning in SC patients.A positive correlation was found between the levels of Gal-3 and TNF-α(r=0.476;P=0.012),Gal-3and IL-23(r=0.417;P=0.031),and Gal-3 and sST2(r=0.402;P=0.038).The binary logistic model,which included all nine cytokines measured in this patient sample,indicated the particular role of Gal-3 and TGF-βin the duration of SC.In the stabilization phase of SC,we observed a moderate and negative correlation between serum Gal-3 levels and leukocytes(r=-0.449;P<0.019).Additional linear regression analysis showed a positive correlation between Gal-3 expression and risperidone dose(F:4.467;P<0.045;r^(2)=0.396).CONCLUSION The combined activity of Gal-3 and proinflammatory cytokines,TGF-βdownregulation and lower counts of leukocytes influence the SC duration.Gal-3 likely manifests indirect immunometabolic regulation of cognition in SC. | Slavica Minic Janicijevic Ivan P Jovanovic Nevena M Gajovic Milena M Jurisevic Monojit Debnath Nebojsa N Arsenijevic Milica M Borovcanin | 2022 | World Journal of Psychiatry2022，12，9： | 1 |
| 6 | DNA bending by the human damage recognition complex XPC-HR23B显示文摘 | Janicijevic A Sugasawa K Shimizu Y | 2003 | DNA repair (Amst)2003，2，3： | 1 |
| 7 | Delocalization In International Commercial Arbitration 显示文摘 | JANICIJEVIC DE JAN | 2005 | Facta Universitatis Se-ties : Law and Politics2005，3，1： | 1 |
| 8 | Inorganically modified diatomite as a potential prolonged-release drug carrier显示文摘 | Janicijevic J Krajisnik D Calija B | 2014 | Materials Science and Engineering:C2014，42，： | 1 |
| 9 | 实验用熔炉中同步进行结晶测试显示文摘在先前的文献中描述了一种空气冷却的测试管,该测试管拥有一系列的插座和插头(在结晶过程中使用的转换插座),可以安装在实验室箱式熔炉中。该装置的用途是调节物质在坩埚槽中结晶过程的晶面和结晶速率。在本文中我们讨论一种改进型的内部冷却器——锯齿状的空气冷却管(结晶架)。这种改进型的冷却器可以简单地搭建和操作,可以延长和弯曲成为各种形状,可以用于坩埚和熔炉管中。该冷却器可以通过简单的调控对不同结晶参数和物质同步进行结晶测试,利用实验用熔炉就可以达到从一系列新型的具有层状晶体结构的化合物中得到晶体的目的。 | Branislav CABRIC Nebojsa DANILOVIC Aco JANICIJEVIC | 2011 | 生命科学仪器2011，9，4： | 0 |
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