scholarly journals The influence of the TBX6 gene on the development of congenital spinal deformities in children

2021 ◽  
Vol 9 (3) ◽  
pp. 367-376
Author(s):  
Sergei E. Khalchitsky ◽  
Sergei V. Vissarionov ◽  
Dmitry N. Kokushin ◽  
Vladislav P. Muldiiarov ◽  
Nikita O. Khusainov

BACKGROUND: Congenital deformities of the spine are a group of serious congenital defects of the vertebrae, which can manifest themselves in the clinical picture as an isolated pathology of the axial musculoskeletal system, and are associated with congenital defects of internal organs and other systems. Recently, the TBX6 gene has been identified as the genetic cause of congenital scoliosis in about 11% of cases. This subtype of scoliosis is classified as TBX6-associated congenital scoliosis. The TBX6-associated congenital scoliosis phenotype is characterized by butterfly-shaped vertebrae and hemivertebrae in the lower thoracic and lumbar regions without pronounced malformations of the spinal cord. AIM: Our aim is to study and evaluate data from foreign and domestic scientific publications devoted to the study of the candidate gene for congenital scoliosis TBX6. MATERIALS AND METHODS: The following databases of scientific publications such as PubMed, Cochrane Library, Web of Science, SCOPUS, MEDLINE, e-Library, Cyberleninka were used to write this review. The inclusion criteria were systematic reviews, meta-analyses, multicenter studies, controlled cohort studies, uncontrolled cohort studies of patients with congenital spinal deformities. The exclusion criteria were clinical cases, observations, conference proceedings, congenital scoliosis in genetic syndromes, congenital scoliosis associated with defects of the nervous system. RESULTS: In order to achieve this goal, 70 scientific publications were studied relating to the data analysis of the candidate gene for congenital scoliosis TBX6. Among 49 publications that were identified, 2 were domestics, and the rest were foreign publications. These studies provided information on the molecular analysis of genes that cause congenital spinal deformities in humans and animals. CONCLUSIONS: An analysis of the published research work on this topic indicates the presence of a significant effect of mutations in the TBX6 gene, leading to the appearance of congenital scoliosis. Advances in elucidating the genetic contribution to the development of congenital spinal deformities and the molecular etiology of clinical phenotypes may uncover the opportunities for further refinement of the classification of signs of congenital scoliosis in accordance with the underlying genetic etiology.

Author(s):  
Seyed Mostafa Parizadeh ◽  
Majid Rezayi ◽  
Reza Jafarzadeh-Esfehani ◽  
Amir Avan ◽  
Hamideh Ghazizadeh ◽  
...  

Abstract. Background: Vitamin D deficiency (VDD) is a major public health problem. There are few comprehensive systematic reviews about the relationship between Vitamin D status and liver and renal disease in Iran. Methods: We systemically searched the following databases: Web of Science; PubMed; Cochrane Library; Scopus; Science Direct; Google Scholar and two Iranian databases (Scientific Information Database (SID) and IranMedex) up until November 2017 to identify all randomized control trials (RCTs), case control, cross-sectional and cohort studies investigating the association between vitamin D and any form of liver or kidney disease. Results: Vitamin D insufficiency, or deficiency (VDD), is highly prevalent in Iran, reports varying between 44.4% in Isfahan to 98% in Gorgan. There is also a high prevalence of VDD among patients with liver or kidney disease, and the administration of vitamin D supplements may have beneficial effects on lipid profile, blood glucose, liver function and fatty liver disease, and bone health. Low serum vitamin D levels are related with abnormalities in these laboratory and clinical parameters. Conclusion: VDD is prevalent in patients with chronic liver or renal disease in Iran. There appear to be several beneficial effects of vitamin D supplementation in vitamin D deficient patients with liver or kidney disease.


2020 ◽  
Vol 16 ◽  
Author(s):  
Saadia Ghafoor

Background:: Prelabor rupture of membrane (PROM) refers to the breakage of fetal membranes before the onset of labor, resulting in the leakage of amniotic fluid. PROM affects approximately 3% and 8% of preterm and term pregnancies. Because of associated high maternal and perinatal mortality, correct and timely diagnosis together with effective management is highly recommended to prevent adverse fetal and maternal outcomes. Objective:: To provide an overview of the novel concepts in the understanding of PROM including etiology, pathophysiology, risk factors, complications, assessment, diagnostic modalities, and contemporary management strategies for PROM at preterm and term. Methodology:: This narrative literature review was conducted through a literature search using the Cochrane library and electronic databases including PubMed, Web of Science, Medline, Scopus, Crossref, Google Scholar, Wiley online library, ScienceDirect with specific search terms in scientific publications published from March 1980 to March 2020. Main Body:: Preterm PROM has the potential to cause prenatal morbidity and mortality. It is imperative to monitor the signs and symptoms of an impending infection due to the risk of infectious morbidity with PROM at preterm and preterm. PROM at preterm and term requires prompt diagnosis followed by an appropriate management strategy. Conclusion:: The correct and timely diagnosis of PROM is essential for efficacious management. Furthermore, it can reduce avoidable emergent health care visits and related costs in a clinical setting subjected to pregnancy with suspected PROM. Further studies are needed to fill the gaps in identifying better diagnostic predictive tools in high- risk pregnancies.


BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e041680
Author(s):  
Shu-Yue Pan ◽  
Rui-Juan Cheng ◽  
Zi-Jing Xia ◽  
Qiu-Ping Zhang ◽  
Yi Liu

ObjectivesGout, characterised by hyperuricaemia with monosodium urate crystal formation and inflammation, is the most common inflammatory arthritis in adults. Recent studies have found that elevated uric acid levels are related to the occurrence of dementia. We conducted a study to investigate the association between dementia and gout or hyperuricaemia.DesignSystematic review and meta-analysis of cohort studies.Data sourcesStudies were screened from inception to 28 June 2019 by searching Medline, Embase and the Cochrane Library databases.Eligibility criteriaCohort studies comparing the risk of dementia in patients with gout and hyperuricaemia versus non-gout and non-hyperuricaemia controls were enrolled.Data extraction and analysisTwo reviewers separately selected studies and extracted data using the Medical Subject Headings without restriction on languages or countries. The adjusted HRs were pooled using the DerSimonian and Laird random effects model. Sensitivity analyses were conducted to evaluate the stability of the results. Publication bias was evaluated using Egger’s and Begg’s tests. Quality assessment was performed according to the Newcastle-Ottawa Scale.ResultsFour cohort studies that met the inclusion criteria were included in our meta-analysis. We found that gout and hyperuricaemia did not increase the risk of dementia, with a pooled HR of 0.94 (95% CI 0.69 to 1.28), but might decrease the risk of Alzheimer’s disease (AD), with a pooled HR of 0.78 (95% CI 0.64 to 0.95). There was little evidence of publication bias. Quality assessment of the included studies was high (range: 6–8 points).ConclusionsOur study shows that gout and hyperuricaemia do not increase the risk of dementia. However, gout and hyperuricaemia might have a protective effect against AD. Due to the limited number of research articles, more investigations are needed to demonstrate the potential relationship between dementia and gout or hyperuricaemia.


2017 ◽  
Vol 51 (11) ◽  
pp. 1000-1007 ◽  
Author(s):  
Kazuhiko Kido ◽  
Michael J. Scalese

Objective: To evaluate current clinical evidence for management of oral anticoagulation therapy after gastrointestinal bleeding (GIB) with an emphasis on whether to, when to, and how to resume an anticoagulation therapy. Data Sources: Relevant articles from MEDLINE, Cochrane Library, and EMBASE databases were identified from 1946 through May 20, 2017, using the keywords: gastrointestinal hemorrhage or gastrointestinal bleeding and antithrombotic therapy or anticoagulation therapy or warfarin or dabigatran or rivaroxaban or apixaban or edoxaban.Study Selection and Data Extraction: All English-language studies assessing management of oral anticoagulation therapy after GIB were evaluated. Data Synthesis: A total of 9 studies were identified. Four retrospective cohort studies showed that resuming anticoagulation therapy was associated with significantly lower rate of thromboembolism (TE) in the general population. Meta-analyses and prospective cohort studies also supported this finding. Two retrospective cohort studies indicated an increase in GIB when anticoagulation reinitiation occurred in less than 7 days without a decrease in TE. Resuming therapy between 7 and 15 days did not demonstrate a significant increase in GIB or TE. A large retrospective study showed that apixaban was associated with the significantly lowest risk of GIB compared with both rivaroxaban and dabigatran. Conclusion: Anticoagulation therapy resumption is recommended, with resumption being considered between 7 and 14 days following GIB regardless of the therapy chosen. Data for warfarin management after GIB should be applied with caution to direct oral anticoagulants (DOACs) because of the quicker onset and experimental nature of reversal agents. Apixaban may be a preferred option when restarting a DOAC therapy.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Boby Pratama Putra ◽  
Felix Nugraha Putra

Abstract Background and Aims Orthotopic liver transplantation (OLT) procedure is increased as incremental end-stage liver disease patients’ prevalence. Acute kidney injury (AKI) is one of most common post-OLT complications that is associated with poor renal outcomes and increased mortality risk although the results are still inconclusive. This study aims to measure the risk of deterioration of renal outcomes and mortality risk due to AKI incidence in post-OLT patients. Method We did comprehensive searching using predefined terms in online databases of Pubmed, EMBASE, ScienceDirect, and The Cochrane Library, to include all relevant studies from 2000-2020. We included all cohort studies that reported AKI incidence in post-OLT patients and accessed the risk of 3-month renal replacement therapy (RRT) need, 1-year chronic kidney disease (CKD) progression, and 1-year mortality rate. We used The Newcastle-Ottawa Scale for cohort study for accessing bias risk. We conducted analysis to pooled risk ratio (RR) with 95% confidence interval (CI) using random-effect heterogeneity test. Results We included 10 cohort studies met our inclusion criteria. The AKI incidence significantly both increases the need of RRT in post-OLT patients (pooled RR = 8.41. 95% CI = 2.82 to 25.09, p = 0.0001, I2 = 0%) then leads the CKD progression in one year (pooled RR = 6.76. 95% CI = 2.03 to 22.51, p = 0.002, I2 = 84%). The post-OLT patients who suffered from AKI has significant incremental 1-year mortality risk (pooled RR = 7.27. 95% CI = 4.34 to 12.18, p<0.00001, I2 = 5%). Conclusion The incidence of AKI in post-OLT patients significantly increase the deterioration of renal outcomes and mortality risks. However, further trials are needed to establish the causalities.


2021 ◽  
Vol 9 (2) ◽  
pp. 235-244
Author(s):  
Ignatij А. Redchenko ◽  
Sergei V. Vissarionov ◽  
Maxim G. Gusev ◽  
Grigoriy A. Lein ◽  
Ivan V. Pavlov

BACKGROUND: Congenital malformations of the spine require urgent treatment, despite the popularity of this problem. The choice of the term and method of surgical treatment of congenital spinal deformities with vertebral malformations does not have diametrically opposed views in the domestic and foreign literature, but the scientific discussion continues regarding the use of orthotics. Currently, several designs of orthoses on the trunk are known worldwide, which can be used not only for idiopathic but also for congenital scoliosis. А unified view of the use of this type of complex treatment is necessary, but there are opposite opinions in the scientific literature. AIM: This study aimed to analyze publications that present the use of torso orthoses in the treatment of congenital malformations of the spine. MATERIALS AND METHODS: We searched for data in the open electronic databases of PubMed and e-LIBRARY using the following keywords and phrases: congenital deformity of the spine, congenital scoliosis, orthosis, and effectiveness of orthosis. The search covered 30 years of literature. RESULTS: Several authors have reported a significant correction of the congenital curves using orthotics, but this issue has not been sufficiently studied and is still at the research stage. Some specialists consider the formation or progression after the operation of compensatory counter-curve above or below the established metal structure, which can be corrected not only by repeated surgery, but also by using orthoses. CONCLUSIONS: There is a clear trend toward complex treatment of children with isolated congenital malformations of the spine, including a reasonable combination of surgical treatment and orthotics. In Europe and Russia, preference is given to the Rigo system Cheneau brace.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Boby Pratama Putra ◽  
Felix Nugraha Putra

Abstract Background and Aims Recent evidences showed an association between NAFLD and extrahepatic manifestations such as chronic kidney disease (CKD) although the result is still inconclusive. This study aims to measure the association of microalbuminuria and estimated glomerular filtration rate (eGFR) decline as CKD risks in NAFLD patients. Method Comprehensive searching using predefined queries was done through online databases Pubmed, EMBASE, ScienceDirect, and The Cochrane Library to include all relevant literature until November 2020. We included all cohort studies of NAFLD patients diagnosed by ultrasonography (USG), commutated tomography (CT), or scoring system fatty liver index (FLI) that reports microalbuminuria and eGFR decline below 60 ml/min/1.73m2. Bias risk was assessed by The Newcastle-Ottawa Scale for cohort studies. Analysis of this study was performed to provide pooled hazard ratio (HR) with 95% confidence interval (CI) using random-effect heterogeneity test. Results We included 10 cohort studies met our criteria. Analysis of 6 NAFLD cohort studies diagnosed by USG is significantly associated with eGFR decline (pooled HR = 1.54, 95% CI 1.13 to 2.11, p=0.006, I2=88%), while NAFLD patients diagnosed by FLI also showed significant association with eGFR decline (pooled HR = 1.58, 95% CI 1.52 to 1.64, p<0.0001, I2=0%), thus overall analysis combined with CT diagnostic modalities showed significant association between NAFLD and eGFR decline (pooled HR=1.53 95%CI 1.29-1.80 p<0.00001 I2=82%). Microalbuminuria risk is significantly increased in NAFLD patients (pooled HR = 1.93, 95% CI 1.39 to 2.67, p<0.0001, I2=0%). Surprisingly, NAFLD patients whose increased gamma-glutamyltransferase (GGT) has higher eGFR decline risk (pooled HR = 1.73, 95% CI 1.02 to 2.92, p=0.04, I2=78%). Conclusion Microalbuminuria and eGFR decline are associated as CKD risks in NAFLD patients. However, further studies are still needed to establish the causality.


2020 ◽  
Vol 7 (4) ◽  
pp. 15-26
Author(s):  
Mikhail V. Mikhaylovskiy ◽  
Alexander S. Vasujra ◽  
Vitaliy L. Lukinov

Backgrоund. Rod fractures are one of the specific complications of spinal deformity surgery. The number of publications on this topic is small, and the conclusions are often contradictory. Aim. The aim of this study is to analyze the current situation concerning the problem of fractures of the rods in spinal deformities of various etiologies in terms of frequency and risk factors for this complication. Materials and methods. The study included 3,833 patients who underwent operations between 1996 and 2018. The inclusion criteria of being over 10 years of age with no history of spinal surgery were applied. Results. Fractures of metal implant rods were detected in 85 patients out of a total of 3,833 (2.2%). There was a significant difference between the groups of idiopathic and congenital scoliosis patients. A rod fracture in 62 of the 85 patients was the reason for reintervention to restore integrity with a connector or a full replacement. An increase in BMI by one raised the chance of a fracture by 1.07 times (p = 0.019). Increasing the age by one year increased the possibility of a fracture by 1.03 times (p = 0.039). A statistically significant association of the ventral stage of surgical treatment (discectomy and interbody fusion with autologous bone) where no fracture was detected (p = 0.403) was revealed. Being over 15 years old a statistically significant predictor was in the group under 20 years of age (p = 0.048). For BMI, there was no statistically significant threshold for fracture probability in the group under 20 years of age. It was confirmed that a hybrid fixation system produced a significantly lower percentage of complications than a hook system. A systematic literature review of sources on this topic included international databases (Scopus, Medline, and Google Scholar) as well as investigating the publications contained in the reference list. Conclusions. Rod fractures during surgery for spinal deformities of various etiologies are one of the typical complications. Fracture frequency in large study groups is small. The risk of developing this complication rises with both increasing BMI and patient age, although there is no statistically significant threshold for BMI relative to the chances of fracture in the group up to 20 years of age. Modern reticular systems of attachment of the endocorrector to the vertebral structures can dramatically reduce the risk of rod fracture during the postoperative period.


Author(s):  
Ye.S. Abdrakhmanov ◽  
A.V. Bogomolov ◽  
P.O. Bykov ◽  
A.B. Kuandikov

The object of research or development: The object of the research work was coal fines and processes of enrichment of Ekibastuz coal to produce fuel briquettes with increased calorific value and less ash content. Objective: Research, scientific substantiation of technology for obtaining high-calorific coal briquettes from fines of Ekibastuz coal using various binders and the possibility of further coking, designing and manufacturing equipment for the implementation of technology. Method or methodology of the work: The standard methods of theoretical and experimental research widely used in metallurgy, machine building, computer systems, etc. were used in the work. The results of the work and their novelty: The characteristics of briquettes on bio-binding and on petroleum pitch with enrichers in the form of rubber-technical soot and anode dust of electrolysers for aluminum production have been established. It is revealed that the calorific value of briquettes is higher than that of Ekibastuz coal(Pavlodar region) by 20-40%, and the heating value is the highest for briquettes with an enrichment agent in the form of anode dust and a binder in the form of petroleum pitch (-NH combustion = 6840.8 kcal / kg). The structures of the soot separator, sorting and sifting equipment, mixing laboratory equipment, the mouthend briquetting press, the briquetting press and the screw mixer with the heater have been designed. Based on the results of the research, the project manager and co-authors published 15 scientific publications, patents and theses of international conferences. Application area: Briquettes for bio-binding can be used as fuel for combustion in centralized village boiler houses, private houses and farms. Briquettes on petroleum pitch with an enrichment agent in the form of anodic dust of aluminum electrolysis can be used as industrial briquettes for further use in metallurgy. Forecasting assumptions about the development of the object of research: Further studies are required to assess the feasibility of using industrial briquettes for coking and use in metallurgy, the manufacture of laboratory and research equipment to further commercialize the project.


2021 ◽  
Vol 9 (1) ◽  
pp. 32-53
Author(s):  
A. A. Klimenkova ◽  
L. N. Geller ◽  
A. A. Skripko ◽  
L. A. Gravchenko ◽  
E. A. Korzhavykh

The aim of the review is to provide an analysis and generalization of the main directions of research in the sphere of pharmaceutical services, and their characteristics associated with the determination of their main development trends.Materials and methods. For the analysis, the information store on the basis of scientific publications by Russian and foreign scientists, devoted to research in the field of pharmaceutical services (PSs), has been used. The search for publications was carried out in the open and accessible sources of the latest twenty years (the retrospective period of 2001-2021), located in scientific and technical libraries of institutions, as well as in electronic databases: Elibrary, Medline / PubMed, Cochrane Library, Scopus, Cyberleninka, Google-academy, J-stage. When forming the information array, the search for publications was carried out according to the following requests: pharmaceutical services (pharmaceutical care services), the provision of pharmaceutical services, the quality of pharmaceutical services. For the conceptualization of the study, 87 scientific publications obtained as a result of information retrieval, have been used.Results. In the course of the study, a logical and structural analysis of the main directions in which research in the field of providing PSs in our country is developing, has been carried out. The main trends in the study of the providing services’ activity in the sphere of drug circulation, are characterized. A comprehensive analysis of the category of "pharmaceutical service" has been carried out. The terminological content of this concept, the groups of features characterizing the economic and social essence of educational institutions have been generalized, and the most characteristic features that make up the structure and content of educational institutions, have been identified. The existing approaches to the development of the nomenclature and types of PSs have been analyzed and the systematization of pharmaceutical works and services using the process approach, have been proposed by the authors.Conclusion. The conducted study indicates the presence of several directions in the development of research in the field of providing PSs, aimed at improving the quality of services for the population in pharmaceutical organizations. However, the most important role in the research is assigned to the study and assessment of the quality of educational institutions, the development of approaches to its optimization. As evidenced by the results of the analysis and generalization, the most successful activity in the provision of services in the field of drug circulation requires the implementation of a process approach and the implementation of Quality Management Systems (QMSs).


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