Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
Humans ; Adenomatous Polyposis Coli/genetics* ; Smad4 Protein/genetics* ; Peutz-Jeghers Syndrome/genetics* ; PTEN Phosphohydrolase/genetics* ; Bone Morphogenetic Protein Receptors, Type I/genetics* ; Intestinal Polyposis/congenital* ; Intercellular Signaling Peptides and Proteins/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Protein Serine-Threonine Kinases/genetics* ; AMP-Activated Protein Kinase Kinases ; Neoplastic Syndromes, Hereditary

Objective To compare the clinical efficacy and fusion rate of unilateral and bilateral C1 and C2 pedicle screw fixation of unstable Jefferson fractures.Methods This retrospective casecontrol study enrolled 22 patients with unstable Jefferson fractures admitted between April 2012 and May 2015.There were 18 males and four females,with the mean age of 52.9 years (range,35-67 years).Mean preoperative visual analogue scale (VAS) was 6.09 points (range,4-8 points).According to the American spinal injury association (ASIA) classification,two patients were rated grade D and one patient grade C.Mean Japanese orthopedic association (JOA) score was 12.3 points.Bilateral C1 and C2 pedicle screw fixation was performed for 15 patients (bilateral group).Advantage side unilateral C1 and C2 pedicle screw fixation was performed for seven patients with extremely unstable fracture or narrow pedicle (unilateral group).Operation time,blood loss and surgical complications were recorded.VAS was used to evaluate the improvement of neck pain after operation.ASIA classification and JOA score were used to assess nerve function recovery.Atlanto-dental interval (ADI),srew position and bone fusion were evaluated after operation.Results All patients successfully completed the operation.Operation time was (119.5 ±21.2)min,and blood loss was (280.1 ±83.1)ml.A total of 74 screws were placed and CT scan showed satisfactory position of the screws.No complications were noted either during the operation or after surgery.All patients were followed up for mean 20.7 months (range,13-33 months).VAS was improved in both groups after operation (P ＜ 0.01),and there was no significant difference between the two groups (P ＞ 0.05).Two patients with ASIA grade D in bilateral group were improved to ASIA grade E after operation.One patient with ASIA grade C in unilateral group was improved to ASIA grade D after operation.JOA score increased to mean 15.7 points at last follow-up.ADI were decreased in both groups after operation(P ＜0.05),but there was no significant difference between the two groups (P ＞ 0.05).All patients had bony fusion 6 months after operation,with similar fusion rate between the two groups (P ＞ 0.05).Conclusion Advantage side unilateral screw fixation can be used for the patients with bilateral C1 and C2 pedicle screw fixation failure,for the technique can improve cervical pain and provide relatively high stability and fusion rate.

Objective To compare the clinical effects of posterior pedicle screw fixation combined with anterior monosegmental or bisegmental fusion reconstruction in patients with unstable Denis type B thoracolumbar burst fractures.Methods A retrospective case-control analysis was made on 62 cases of Denis type B thoracolumbar burst fractures treated from June 2010 to June 2014.There were 51 males and 11 females,aged 19-55 years (mean,35.1 years).The injury causes included fall from height in 32 cases,traffic accidents in 24,hit by heavy objects in 6.Fifty cases were with monosegmental burst fractures,and 12 with monosegmental burst fractures combined with other vertebral compressive fractures.The burst fracture levels were at T~in 8 cases,T12in 20,L1 in 24,L2 in 6,and L3 in 4.According to the different surgical methods,the patients were divided into two groups:Group A (n =30,treated with posterior pedicle screw fixation combined with anterior monosegmental fusion reconstruction) and Group B (n =30,treated with posterior pedicle screw fixation combined with anterior bisegmental fusion construction).The operation time and intraoperative blood loss were compared between the two groups.Visual analogue scale (VAS),Oswestry disability index (ODI),and Frankel scale of neurologic function were compared at last follow-up.The changes of anterior height of fracture vertebrae and Cobb angle of the two groups were also compared preoperatively,postoperatively and at last follow-up.Implant looseness and breakage,titanium mesh tilt,and bone fusion were recorded postoperatively.Results All patients were followed up for 18-24 months (mean,20.8 months).The operation time and blood loss in Group A was (208.2 ± 15.6) min and (598.3 ± 55.3) ml,respectively.The operative time and blood loss in Group B was (260.1 ± 17.4)min and (662.2± 58.3)ml,respectively.There were significantly statistical differences between two groups in operation time and blood loss (P ＜0.05).There were no statistical differences between two groups in terms of Cobb angle restoration and fracture height restoration rate after surgery,Cobb angle loss and fracture vertebral body front height loss rate at final follow-up (P ＞ 0.05).At the final follow-up,VAS in Group A was (2.5 ± 0.8) points,less than (3.2 ± 1.1) points in Group B (P ＜ 0.05);ODI in Group A was (20.3 ± 5.8) points,less than (28.2 ± 5.1) points in Group B (P ＜ 0.05).Frankel scale was improved to some degree after operation (P ＜ 0.05).One case did not achieve bone fusion in Group A versus three cases in Group B (P＜0.05).No implant Loosening,titanium mesh tilt or settlement was found in Group A,while there were eight cases of titanium mesh tilt or settlement in Group B (P ＜0.05).Conclusions For unstable Denis type B thoracolumbar burst fractures,posterior pedicular fixation combined with anterior monosegmental fusion or bisegmental fusion can achieve equal clinical effects.However,posterior pedicular fixation combined with anterior monosegmental fusion can have less injury,higher bone fusion rate,better function restoration,and less incidence of complication.