Objective To evaluate 5 different kinds of perforator flaps for repairing soft-tissue defects and reconstructing the breast and tongue after the breast or the tongue resection.Methods From June 2005 to June 2006, 31 free or pedicled perforator flaps were used to repair the softtissue defects or reconstruct the organs in our hospital. The free anterolateral thigh flaps (ALT) were used in 16 cases to repair the soft-tissue defects in the head and neck after resection of malignant tumors, including malignant melanoma in 9, squamous carcinoma in 4, basaloma in 2 and malignant fibrous histocytoma in 1.Among them, 3 ALT flaps were used for reconstruction of the tongue after resection of the tongue (3/4); the maximum area of the flap was 26 cm×15 cm. The deep inferior epigastric perforator flaps (DIEP) were used in 10 cases, and the free transverse rectus abdominis myocutaneous flaps (FTRAM) were used in 2 cases to reconstruct the breast.Secondary reconstruction was performed in9 cases, immediate reconstruction with the skin-sparing mastectomy at the sametime was performed in 3 cases. The bilateral breast reconstruction was performed in 3 cases and the unilateral breast reconstruction was performed in 9 cases. The breast reconstruction was performed in 1 case using the superior gluteal artery perforator flap (SGAP) and the inferior gluteal artery perforator flap (IGAP), respectively. One case had an uncovered bone (6 cm × 4 cm) in the middle andlower parts of the right cnemis, which was repaired by the pedicled local posterior tibial artery perforator flap (PTA,15 cm × 5 cm). The donor sites were sutured directly in 27 cases, the ALT flap in 3 and PTA flap in 1 were covered by the epidermal skin graft. Results The follow-up for 3-6 months revealed that in the 31 cases (33 free flaps, 1 pedicled flap), only 1 had a total necrosis of the transferred ALT flap for the neck defect repair after resection of the neck tumor, which was caused by the venous insufficiency. There was nopartial necrosis in the remaining ALT flaps. There was a partial fat liquefaction in the DIEP flap, and a pain of abdomen in the FTRAM flap. The distal partial necrosis occurred in the pedicled PTA flap (2 cm×1 cm) in 1 case, as a result of the venous insufficiency, which was managed successfully using daily dressings. One SGAP and one IGAP survived. ConclusionAlthough the perforator dissection is difficult and the vascular anatomy is complicated, application of the perforator flaps to repair of the softtissue defects and reconstruction of the organs is still an important step forward becaue of the minimal donor site “cost” and the maximal efficacy.
Objective To observe the expressions of DNA methyltransferases (DNMTs) 1, 3a and 3b in retinoblastoma (RB). Methods Sixty-two RB samples and six normal retinas were studied, including 17 poorly differentiated and 45 well differentiated samples; 16 invasive and 46 non-invasive samples. The expressions of DNMT1, 3a, and 3b, and Ki-67 were detected using immunohistochemical analysis. Brown staining of nuclei was considered to represent the positive stain for DNMT1, 3a and 3b, and ki-67, blue staining as negative. The level of high expression of nuclear staining was, positive cells in DNMT1ge;65%, in DNMT3age;60% and in DNMT3bge;40%. The correlations of DNMT1, 3a and 3b expression in RB samples, and MIB-1 labeling index were analyzed. Results Viewed under the light microscope, negative expressions of DNMT1, 3a and 3b were demonstrated in normal retinas, however, positive expression was observed in RB samples, with 100% in DNMT1, 98% in DNMT3a and 92% in DNMT3b. Comparing well differentiated RB samples with poorly differentiated samples, significant differences were found in high expression of DNMT1 (chi;2=12.57,P＜0.05) and DNMT3a (chi;2=10.54,P＜0.05); also in the positive cells of DNMT1 (U=179,P＜0.05) and DNMT3a (U=198,P＜0.05). No significant difference was found comparing high expression (chi;2=1.5,P＞0.05) and positive cells (U=307,P＞0.05) of DNMT3b. When comparing invasive tumor tissues with non-invasive tumors, significant differences were shown between high expression (chi;2=4.72,P＜0.05) and positive cells comparing DNMT1 (U=236,P＜0.05). No significant difference was shown in high expression (chi;2=3.53,0.84; P＞0.05) in DNMT3a and DNMT3b, or in comparison with positive cells (U=338,257;P＞0.05). The expression of DNMTs was positively correlated with the MIB-1 labeling index in RB tissues (R2=0.554,0.376,0.219;P＜0.05). Conclusion There are high expressions of DNMT1,3a,and 3b in RB.
Objective To observe the expression and relationship of high-mobility group A(HMGA)1, HMGA2, MIB-1 labeling index (LI) and let-7 in retinoblastoma (RB). Methods Forty-four RB samples were studied, including 11 poorly-differentiated samples, 33 well-differentiated samples; eight invasive and 36 non-invasive samples. The expression of HMGA1, HMGA2 and MIB-1 LI in RB were analyzed by immunohistochemitry. The HMGA1, HMGA2 were scored on a scale of 0 to high expression. 0: no expression; low: 1%-10%; medium: 11%-50%; high: ＞50%. The MIB LI were scored on a scale of 0 to high expression. 0: no expression; low: 1%-40%; high: ＞40%. Semiquantitative reverse transcription-polymerase chain reaction was used to assay the let-7 expression level: ge;80% showed no significantly decreased expression; 60%-79% showed medium decrease in expression; ＜60% highly decreased in expression. ResultsIn 44 RB samples, there were 14 cases with no HMGA1 expression (32%), 11 cases with low expression (25%), 10 cases with medium expression (23%), and nine cases with high expression (20%). Expression level of HMGA1 was significantly higher in poorly differentiated RB than in well-differentiated RB (chi;2=11.3,P＜0.01); however, no statistically significant difference was found between invasive tumors and noninvasive tumors (chi;2=5.9,P＞0.05). There were 11 cases with no HMGA2 expression (25%), 11 cases with low expression (25%), nine cases with medium expression (20%), and 13 cases with high expression (30%). Expression level of HMGA2 was significantly higher in poorly differentiated and invasive RB than in well-differentiated and noninvasive RB respectively (chi;2=20.9, 8.7;P＜0.05). There were 4 cases with no MIB-1 LI expression (9%), 18 cases with low expression (41%), and 22 cases with high expression (50%). Expression level of MIB-1 LI was significantly higher in poorly differentiated RB than in well-differentiated RB (t=5.2,P＜0.05). Higher expression of MIB-1 LI was found in invasive tumors than in noninvasive tumors, with no significant difference (t=-1.1,P＞0.05). Twenty-seven cases had no significantly decreased expression of let-7 (61%). There were eight cases with medium decreased expression (18%) and nine cases with highly decreased expression (21%). Correlation analyses revealed that MIB-1 LI expression significantly correlated with HMGA1and HMGA2 proteins (r=0.327, 0.602;P＜0.05). A significantly inverse correlation existed between let-7 expression and HMGA1, HMGA2 proteins and MIB-1 LI respectively (r=-0.247,-0.310,-0.392;P＜0.05). Conclusions Overexpression of HMGA1, HMGA2 and MIB-1 LI and down regulation of let-7 were demonstrated in RB. Supplying let-7 to RB cells can possibly inhibit HMGA1 and HMGA2 expression.
Objective To investigate the correlation between single nucleotide polymorphism (SNP) of complement factor H (CFH) gene and exudative age-related macular degeneration (AMD) susceptibility. Methods This is a retrospective case control study. 136 exudative AMD patients (AMD group) and 140 age-and sex- matched normal subjects (control group) were enrolled in this study. The peripheral blood was collected, polymorphism genotypes and frequency of CFH Y402H (rs1061170), CFH-257Cgt;T(rs3753394) and CFH IVS15 (rs1329428)were measured by polymerase chain reaction (PCR) and allele-specific restriction endonuclease digestion. The SHEsis software was performed on haplotype construction to analyze the frequency. Results There are TT, TC, CC genotypes and T, C allele in CFH Y402H (rs1061170); CC, CT, TT genotypes and C, T allele in CFH-257Cgt;T (rs3753394); AA, AG, GG genotypes and A, G allele in CFH IVS15 (rs1329428). The differences of genotypes and allele frequency between 2 groups were statistically significant (P＜0.05). The TC genotype in CFH Y402H, TT genotype in CFH-257Cgt;T (rs3753394) and GG genotype in CFH IVS15 (rs1329428) were associated with exudative AMD susceptibility (OR=4.11,2.55,3.11；P＜0.05). The T,C and G allele were the risk alleles (OR=3.14,1.72,1.79；P＜0.05). The differences of frequency between TCG, CTG and CTA haplotype were statistically significant(chi;2=10.53,6.60, 32.82；P＜0.05）. Conclusion There is correlation between SNPs of CFH gene and exudative AMD susceptibility.
CDKL5 deficiency disorder (CDD), also known as developmental epileptic encephalopathy, is a rare X-linked dominant disease of the nervous system. Its main clinical manifestations include: uncontrollable seizures, cognitive impairment, motor retardation, visual impairment, sleep disorders, gastrointestinal impairment, autonomic nervous dysfunction, and autistic like manifestations. Its high disability rate and heavy disease burden bring heavy burden to society and family. However, the current domestic and foreign studies on this disease mainly focus on the clinical phenotype and pathogenesis, and there are few studies involving the standard clinical management of various systems. Therefore, a core committee composed of CDD experts from the United States, Europe, and the United Kingdom conducted a six-month investigation (August 2020—January 2021) and developed the international consensus: recommendations for the assessment and management of CDKL5 deficiency patients (hereafter referred to as the Consensus) based on the Durfel research methodology. This consensus invites multidisciplinary experts to put forward diagnosis and treatment suggestions for the diagnosis and treatment of CDD as well as the clinical management of various systemic systems, which will provide evidence-based basis for regulating the diagnosis and treatment behaviors of clinicians for CDD. In this paper, the consensus was interpreted to facilitate the long-term management of the disease.
ObjectiveTo investigate the effectiveness of fixation the posterior malleolus or not to treat different Haraguchi’s classification of posterior malleolus fractures.MethodsThe clinical data of 86 trimalleolar fracture patients who were admitted between January 2015 and September 2019 and met the selection criteria were retrospectively reviewed. There were 29 males and 57 females; the age ranged from 26 to 82 years with a mean age of 55.2 years. According to Haraguchi’s classification, 38 patients were in type Ⅰ group, 30 patients in type Ⅱ group, and 18 patients in type Ⅲ group. There was no significant difference in the general data such as gender, age, and fracture location among the 3 groups (P>0.05). The fixation of the posterior malleolus was performed in 23, 21, and 5 patients in type Ⅰ, Ⅱ, and Ⅲ groups, respectively. The operation time, fracture healing time, full weight-bearing time, postoperative joint flatness, and joint degeneration degree of the patients in each group were recorded and compared. The American Orthopedic Foot and Ankle Society (AOFAS) ankle and hindfoot score was used to evaluate ankle function, including pain, quality of daily life, joint range of motion, and joint stability. The AOFAS scores were compared between fixation and non-fixation groups in each group.ResultsThe procedure was successfully completed by all patients in each group, and there was no significant difference in operation time (F=3.677, P=0.159). All patients were followed up 12-36 months with a mean time of 16.8 months. At last follow-up, 6 patients were found to have suboptimal ankle planarity, including 2 patients (5.3%) in the type Ⅰ group and 4 patients (13.3%) in the type Ⅱ group, with no significant difference between groups (χ2=6.566, P=0.161). The ankle joints of all the patients in each group showed mild degeneration; the fractures all healed well and no delayed union or nonunion occurred. There was no significant difference in the fracture healing time and full weight-bearing time between groups (P>0.05). No complications such as incision infection, fracture displacement, or plate screw loosening and fracture occurred during follow-up. At last follow-up, the total scores and pain scores of the AOFAS scores in the type Ⅱ group were significantly lower than those in the type Ⅰand Ⅲ groups (P<0.05), there was no significant difference between groups in the scores for the quality of daily life, joint range of motion, and joint stability between groups (P>0.05). There was no significant difference in any of the scores between the unfixed and fixed groups, except for the pain and quality of daily life scores, which were significantly lower (P<0.05) in the unfixed group of type Ⅱ group than the fixed group.ConclusionHaraguchi type Ⅱ posterior malleolus fractures have a worse prognosis than types Ⅰ and Ⅲ fractures, especially in terms of postoperative pain, which can be significantly improved by fixing the posterior malleolus; the presence or absence of posterior malleolus fixation in types Ⅰ and Ⅲ has less influence on prognosis.