A comprehensive consolidation of data on the relationship between IRF6 polymorphisms and non-syndromic cleft lip/palate susceptibility: From 79 case-control studies.

BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent craniofacial birth defect on a global scale. A number of candidate genes have been identified as having an impact on NSCL/P. However, the association between interferon regulatory factor 6 (IRF6) polymorphisms and NSCL/P has yielded inconsistent results, prompting the need for a meta-analysis to obtain more accurate estimates. METHODS: We conducted a thorough screening of all relevant articles published up until November 15, 2023, in online bibliographic databases. The statistical analysis of the collected data was performed using the Comprehensive Meta-Analysis (Version 4.0) software. RESULTS: A total of 79 case-control studies, comprising 14,003 cases and 19,905 controls, were included in our analysis. The combined data indicated that the IRF6 rs642961 and rs2235371 polymorphisms were associated with an increased risk of NSCL/P in the overall population. However, no significant association was found between the rs2013162 and rs2235375 polymorphisms and the risk of NSCL/P in the overall population. Furthermore, subgroup analyses revealed significant correlations between the IRF6 rs642961, rs2235371, and rs2235375 polymorphisms and the risk of NSCL/P based on ethnic background and country of origin. Nevertheless, the rs2013162 polymorphism plays a protective role in Caucasians and mixed populations. CONCLUSIONS: Our collective data indicates a significant association between the rs642961 and rs2235371 polymorphisms and the risk of NSCL/P in the overall population. The rs2235375 polymorphism could influence the susceptibility to NSCL/P based on ethnic background. Meanwhile, the rs2013162 polymorphism provides protective effects in Caucasian, mixed populations, and the Brazilian population.

Association between Fetal MTHFR A1298C (rs1801131) Polymorphism and Neural Tube Defects Risk: A Systematic Review and Meta-Analysis.

BACKGROUND: The association of the fetal MTHFR A1298C (rs1801131) polymorphism and neural tube defects (NTDs) susceptibility has been widely demonstrated, but the results remain inconclusive. Thus, we performed a meta-analysis to investigate the association between fetal MTHFR A1298C polymorphism and NTDs risk. METHODS: An electronic search of PubMed, web of science, SciELO, CNKI database for studies on the fetal MTHFR A1298C polymorphism and NTDs risk was performed up to March 30, 2020. RESULTS: A total of 22 case-control studies with 3,224 fetuses with NTDs and 3,295 controls were selected. Overall, pooled data showed that the fetal MTHFR A1298C polymorphism was not significantly associated with risk an increased risk of NTDs in the global population. When stratified analysis by ethnicity, country of origin and NTDs type, still no statistically significant association was found. CONCLUSIONS: Our pooled data emerged no evidence for significant association between fetal MTHFR A1298C polymorphism and NTDs risk.

Association of Fetal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects: A Systematic Review and Update Meta-Analysis.

Background MTHFR gene may be a key epigenetic regulation-related factor crucial during embryogenesis. We performed a meta-analysis to determine the association of fetal MTHFR C677T polymorphism with neural tube defects (NTDs).Methods A comprehensive literature search of the PubMed, Embase, and CNKI database was performed up to April 10, 2020.Results A total of 19 case-control studies with 2,228 NTDs cases and 4,220 controls were identified. Pooled data revealed that the fetal MTHFR C677T polymorphism was significantly highly correlated with development of NTDs in the overall population. Stratified analysis showed a significant association among Caucasians and Asians, but not in mixed populations. There was a significant association between the MTHFR C677T polymorphism and spina bifida risk. No publication bias was found under any genetic model.Conclusions Our pooled data support the fetal MTHFR C677T polymorphism association with risk of NTDs, especially among Caucasians and Asians.

Association of IL-6 -174G > C Polymorphism with Susceptibility to Childhood Sepsis: A Systematic Review and Meta-Analysis.

BackgroundThis meta-analysis evaluates the correlation between the IL-6 -174 G > C polymorphism and susceptibility of childhood sepsis. Methods: We searched PubMed, ISI Web of Knowledge, Scopus, CNKI, SID, SciELO databases until December 30, 2019 to identify all eligible studies. Results: A total of 17 studies with 1,287 cases and 2,482 controls were identified. Pooled data revealed that there was no significant association between the IL-6 -174 G > C polymorphism and risk childhood sepsis in the overall population. When stratified analysis was carried out by age group of cases, no associations were found in neonates and pediatrics. However, in ethnicity-based subgroups, a significant association was found in Caucasians and Africans. Conclusions: There was no significant association of the IL-6 -174G > C polymorphism with susceptibility to sepsis in childhood overall, but there was an association with the Caucasian and African ethnic subgroups.

An Updated and Comprehensive Meta-Analysis of Association between VEGA -634G > C, -460T > C, +405G > C and +936C > T Polymorphisms and Retinopathy of Prematurity Risk.

BACKGROUND: Previous studies have suggested an association between VEGF-A polymorphisms and retinopathy of prematurity (ROP) risk. But the conclusions are still controversial. The aim of this meta-analysis was to evaluate the association between the VEGF-A polymorphisms and susceptibility of ROP. Methods: We searched PubMed, Scopus, WanFang and CNKI databases for all eligible case-control studies published before September 30, 2019. Results: A total of 27 case-control studies with 5,748 ROP cases and 6,146 controls were selected. The results suggested that there was an association between VEGF-A -460T > C polymorphism and increased risk of ROP under the allele model (C vs. T: OR= 0.879, 95% CI 0.776-0.994, p = 0.040). However, VEGF-A -634G > C, +405G > C and +936C > T polymorphisms were not significantly associated with risk of ROP. The subgroup analysis demonstrated that VEGF-A +405G > C polymorphism was associated with ROP risk in Caucasians. Conclusions: This meta-analysis indicates that VEGF-A -460T > C polymorphism may contribute to the susceptibility for ROP.

The Risk and Prevalence of COVID-19 Infection in Colorectal Cancer Patients: a Systematic Review and Meta-analysis.

BACKGROUND: Patients with cancer might be at an increased risk of infection with COVID-19 and a more severe disease course. However, different tumor types have differing susceptibility to the infection and COVID-19 phenotypes. Thus, the risk and prevalence of COVID-19 is not uniform across the different tumor types. Here, we performed a meta-analysis to estimate the risk and prevalence of COVID-19 infection in colorectal cancer (CRC) patients. METHODS: A comprehensive literature search was performed up to July 25, 2020, thorough PubMed, Web of Science, Scopus, Google Scholar, CNKI, CBM, China Science, Wan Fang, and SciELO databases. The risk of COVID-19 infection in CRC patients was performed based on the odds ratios (ORs) and 95% confidence interval (95% CI). RESULTS: A total of six studies with 204 different cancer patients with COVID-19 and 92 CRC infected patients with COVID-19 were selected. Our results showed that the prevalence of COVID-19 infection in CRC patients was 45.1% in the global population. The pooled data showed that there is no a significant risk of infection with COVID-19 in CRC patients in the global population (OR = 0.261, 95% CI 0.099-0.533, p = 0.082). However, when subgroup analysis was performed based on country of origin, we found a significant correlation in Chinese CRC patients (OR = 0.221, 95% CI 0.146-0.319, p ≤ 0.001). CONCLUSIONS: This study results revealed that Chinese CRC patients harbored a higher risk of COVID-19 infection. However, more multicenter, larger sample sizes and high-quality studies are required to verify this meta-analysis result.

Cancer and Coronavirus Disease (COVID-19): Comorbidity, Mechanical Ventilation, and Death Risk.

BACKGROUND: The presence of comorbidity poses a major clinical challenge in the care and treatment of COVID-19 patients. Moreover, having one or more comorbidities could be a life-threatening situation in COVID-19 patients. Cancer is substantially associated with significant morbidity and mortality in COVID-19 patients. However, there is not sufficient data to conclude that cancer patients have a higher risk of COVID-19 infection. In this study, we reviewed cancer comorbidity and risk of mechanical ventilation or death in patients with confirmed COVID-19. METHODS: A comprehensive systematic search was performed on PubMed, Scopus, Web of Science, SciELO, and CNKI, to find articles published until August 01, 2020. All relevant case series, case reports, systematic and narrative reviews, meta-analyses, and prospective and retrospective studies that reported clinical characteristics and epidemiological information of cancer patients infected with COVID-19 were included in the study. RESULTS: A total of 12 cohort studies exclusively on cancer patients with confirmed COVID-19 were selected. CONCLUSIONS: According to the findings of this study, cancer was not among the most prevalent underlying diseases in patients with confirmed COVID-19. Moreover, cancer patients infected with COVID-19 had the lowest risk of mechanical ventilation or death than the non-cancer infected patients.

The effect of adenosine in inducing cardiac arrest for endovascular treatment of paediatric high-flow brain and spinal vascular malformation.

INTRODUCTION: Endovascular treatment of high-flow vascular lesions with onyx may be very dangerous due to premature occlusion of the vein resulting from high flow-induced migration of this embolic substance without occlusion of the feeding vessels and the nidus. It is also dangerous because of the risk of occlusion of the normal vessels around the lesion. Inducing temporary cardiac arrest using adenosine may be helpful in limiting and minimizing these risks. However anaesthetic management of this procedure in children suffering from high-flow vascular lesions is difficult and challenging. METHODS: We report three paediatric patients with high-flow cerebrospinal vascular lesions that underwent endovascular treatment under general anaesthesia and temporary cardiac arrest with adenosine. Adenosine was administered in escalating doses to induce a few seconds of cardiac standstill and the onyx injection was synchronized with the onset of adenosine-induced cardiac standstill, the fistula being occluded by onyx. RESULTS: There were no complications in peri-procedural treatment in all three cases. Post-embolization angiography revealed complete obliteration of the lesion, and the patients' neurological status progressively improved at follow-up. CONCLUSION: Adenosine-induced temporary cardiac standstill was successfully used to facilitate safe and controlled endovascular onyx embolization of high-flow central nervous system vascular lesions.

Association of REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > a Polymorphisms with Susceptibility to Hirschsprung Disease: A Systematic Review and Meta-Analysis.

Background: Previous studies have suggested a close association between REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > A polymorphisms and Hirschsprung disease (HSCR) susceptibility. The results are inconsistent and contradictory. Thus, we performed a meta-analysis to evaluate the association of RET c.73 + 9277T > C and c.135G > A polymorphisms with risk of HSCR.Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and CNKI up to August 5 2019.Results: A total of 20 studies including 10 studies with 1136 cases and 2420 controls on c.73 + 9277T > C and 10 studies with 917 cases and 1159 controls on c.135G > A were selected. Pooled ORs revealed that c.73 + 9277T > C and c.135G > A polymorphisms were significantly associated with an increased risk of HSCR. Moreover, stratified analysis revealed that c.73 + 9277T > C and c.135G > A polymorphisms were associated with HSCR risk in Asian, Caucasian and Chinese populations.Conclusions: This meta-analysis result indicated that the RET c.73 + 9277T > C and c.135G > A polymorphisms were associated with susceptibility to HSCR.

Haematogenous Spondylodiscitis in Patients With Liver Cirrhosis: Case Series of 36 Patients.

STUDY DESIGN: A retrospective study of 36 liver cirrhosis patients presenting with spondylodiscitis. OBJECTIVES: The aim of this study was to analyze the characteristics of spondylodiscitis in the presence of liver cirrhosis and furthermore, to evaluate the outcome of surgery in this specific group of patients. SUMMARY OF BACKGROUND DATA: The incidence of haematogenous spondylodiscitis is increasing. The coexistence of liver cirrhosis makes the course of the disease more aggressive. METHODS: A total of 36 liver cirrhosis patients presented with haematogenous spondylodiscitis. The onset of infection, clinical course and outcomes of management were reviewed retrospectively. RESULTS: The associated comorbidities were cardiac in 17 patients, diabetes in 19, renal insufficiency in 16, and another focus for infection in nine cases. Neurological deficits were found in 24 patients (67%) and fever in 15 cases. Nine patients had septic manifestations. The lumbar spine was affected in 25 patients (69%). Noncontiguous spinal infection was found in nine patients (25%) and epidural abscess in 24 individuals. The preoperative C-reactive protein was elevated in all cases. The causative organism was most commonly Staphylococcus aureus (17 patients). A combined anteroposterior approach was necessary in 28 patients and a minimallly invasive surgery was performed in 30 cases. In-hospital mortality was 14% (5 patients). The neurological improvement rate was 82%. The postoperative antibiotic therapy was taken for more than 8 weeks in 22 patients. In 15 patients, a combination of antibiotics was necessary. CONCLUSION: Spinal infection in the presence of liver cirrhosis is challenging. The rate epidural abscess formation is relatively high. Early diagnosis remains the main cornerstone in the management and the indication for surgery should be carefully considered. Minimally invasive techniques should be used when possible to minimize complication rate, and higher amounts of intraoperative blood loss should be expected. LEVEL OF EVIDENCE: 4.

What constitutes the fat signal detected by MRI in the spine of patients with ankylosing spondylitis? A prospective study based on biopsies obtained during planned spinal osteotomy to correct hyperkyphosis or spinal stenosis.

OBJECTIVE: Study the MRI signal of fatty lesions (FL) by immunohistological analysis of vertebral body biopsies of patients with ankylosing spondylitis (AS) compared with degenerative disc disease (DDD). METHODS: Biopsies obtained during planned surgery from vertebral edges where MRI signals of FL was detected were stained with H&E. Immunofluorescence (IF) staining was performed to quantify osteoblasts and osteoclasts. Bone marrow (BM) composition, grade of cellularity and quantification of cells were analysed on six randomly chosen high-power fields (HPF; 0.125 mm2) at 200-fold magnification per patient by two experienced researchers in a blinded manner. RESULTS: Biopsies of 21 patients with AS and 18 with DDD were analysed. Adipocytes were found in the BM of 19 patients with AS (90.5%) versus 5 with DDD (27.8%) (p<0.001), while inflammatory infiltrates were found in in the BM of 8 patients with AS (38.1%) versus 14 with DDD (77.8%) (p=0.035) and fibrosis in 6 patients with AS (28.6%) versus 4 with DDD (22.2%) (p=n .s.). The most frequently detected cells were adipocytes in AS (43.3%) versus DDD (16.1%, p=0.002) and inflammatory mononuclear cells in DDD (55%) versus AS (11.0%, p=0.001). Using IF staining, there was more osteoblastic than osteoclastic activity (6.9 vs 0.17 cells/HPF) in FL as compared with inflammatory BM (1.3 vs 7.4 cells/HPF), respectively. CONCLUSION: MRI FL correspond to presence of adipocytes, resulting to change of cellular homeostasis towards diminution of osteoclasts in the BM of patients with AS. The cross-talk between the different cell types and osteitis, fat and new bone formation needs further study.

Cystic dilation of a ventriculus terminalis. Case report and review of the literature.

The ventriculus terminalis (VT) is a small ependyma-lined cavity within the conus medullaris that is in direct continuity with the central canal of the spinal cord. Cystic dilatation of the ventriculus terminalis on its own is an extremely rare pathological event in adults whose pathogenesis is uncertain. VT has been described in children as a normal developmental phenomenon. These lesions are often diagnosed incidentally during imaging and are in most cases asymptomatic, especially in children. Symptomatic dilatation of VT in adults is a rare condition with 61cases being reported to date. Symptomatic dilatation of VT in children has not been reported till now. We present a 5 year-old-boy with a sphincteric and walking disorder. The patient was assessed by clinical, electrophysiological and urodynamic investigations as well as magnetic resonance imaging (MRI) of the lumbar-sacral segment with and without gadolinium enhancement. Lumbar-sacral MRI demonstrated the presence of a cystic lesion containing cerebrospinal fluid (CSF), which did not enhance after gadolinium, compatible with the diagnosis of the ventriculus terminalis dilation.The patient underwent laminectomy and the cyst wall was fenestrated with a midline myelotomy. In 6-month of follow-up, urinary problems and gait disturbance improved.

Effect of Local N-acetyl-cysteine in the Prevention of Epidural Fibrosis in Rat Laminectomy Model.

BACKGROUND: Epidural fibrosis is a major contributing factor to the onset of failed back syndrome. Many studies have attempted to prevent this physiological response. Interestingly, N-acetyl-cysteine (NAC) has been effective in some cases in the treatment of pulmonary fibrosis. OBJECTIVE: The objective of this study was to determine whether local NAC is an effective way to prevent epidural fibrosis after laminectomy in rats. MATERIALS AND METHODS: Twenty Wistar rats were used in this study. Animals were divided into two groups: NAC group and a control group. We performed two-level laminectomy (L4-L5) in these rats. Rats in the control group just had laminectomy, and in the other group, L4 and L5 laminectomy followed by local treatment with NAC. Four weeks later, the rats were killed, and the laminectomy level was subjected to histopathological examination to evaluate epidural fibrosis and fibroblast density. RESULTS: Histopathological examination showed that after 4 weeks of surgery the NAC group had significantly less epidural fibrosis and fibroblasts compared with control group. CONCLUSION: Our findings indicate that NAC decreased spinal epidural fibrosis after laminectomy in rats.

Comparison of Different Techniques of Ultrasound-Guided Fine Needle Biopsy of Liver in a Swine Model.

BACKGROUND: The quality of liver biopsy specimens obtained with different fine needle biopsy (FNB) techniques has not been compared. OBJECTIVES: This study was performed to evaluate the diagnostic quality of three different liver FNB biopsy techniques. MATERIALS AND METHODS: Two sequential biopsy series were performed on piglets. Three biopsy techniques were compared: capillary-FNB, core-FNB (CFNB) and vacuum-assisted CFNB (VACFNB) in a swine model. Initially, 30 liver biopsies were performed (ten for each technique). The cellularity and quantity of blood in specimens were measured and compared. In the second series, 54 additional biopsies using CFNB and VACFNB techniques (27 each) in a separate piglet were evaluated in the same fashion. RESULTS: In the first series, cellularity and blood levels were significantly lower in capillary-FNB compared with CFNB (P < 0.001 and P = 0.011, respectively). There was no significant difference between CFNB and VACFNB in cellularity and blood (P = 0.15 and P = 0.1, respectively). In the second series, cellularity was significantly higher in CFNB compared with VACFNB (P < 0.001) with no significant difference in blood (P = 0.5). CONCLUSIONS: Among these three different FNB techniques, CFNB technique provided the greatest cellularity. Capillary-FNB technique was inferior among all with the lowest quality of obtained material for cytopathological interpretation.