Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation / 亚洲男科学杂志(英文版)

This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.

Effective constituents of essential oil from Gleditsiae Fructus Abnormalis and anti-cerebral ischemia/reperfusion injury mechanism: based on GC-MS, network pharmacology, and experimental verification / 中国中药杂志

Based on GC-MS and network pharmacology, the active constituents, potential targets, and mechanism of essential oil from Gleditsiae Fructus Abnormalis(EOGFA) against cerebral ischemia/reperfusion(I/R) injury were explored, and the effective constituents were verified by experiment. To be specific, GC-MS was used identify the constituents of the volatile oil. Secondly, the targets of the constituents and disease were predicted by network pharmacology, and the drug-constituent-target network was constructed, followed by Gene Ontology(GO) term enrichment and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment of the core targets. Molecular docking was performed to investigate the binding affinity between the active constituents and the targets. Finally, SD rats were used for experimental verification. The I/R injury model was established, and the neurological behavior score, infarct volume, and pathological morphology of brain tissue were measured in each group. The content of interleukin-1β(IL-1β), interleukin-6(IL-6), and tumor necrosis factor-alpha(TNF-α) was determined by enzyme-linked immunosorbent assay(ELISA), and the protein expression of vascular endothelial growth factor(VEGF) by Western blot. A total of 22 active constituents and 17 core targets were screened out. The core targets were involved in 56 GO terms and the major KEGG pathways of TNF signaling pathway, VEGF signaling pathway, and sphingolipid signaling pathway. Molecular docking showed that the active constituents had high affinity to the targets. The results of animal experiment suggested that EOGFA can alleviate the neurological impairment, decrease the cerebral infarct volume and the content of IL-1β, IL-6 and TNF-α, and down-regulate the expression of VEGF. The experiment verified the part results of network pharmacology. This study reflects the multi-component, multi-target, and multi-pathway characteristics of EOGFA. The mechanism of its active constituents is related to TNF and VEGF pathways, which provides a new direction for in-depth research on and secondary development of Gleditsiae Fructus Abnormalis.

Changes in temporomandibular joint spaces after arthroscopic disc repositioning: a self-control study.

Disc repositioning is a common procedure for patients with anterior disc displacement (ADD). The purpose of this retrospective record-based study was to evaluate changes in the widths of joint spaces and condylar position changes in patients with unilateral ADD following arthroscopic disc repositioning, with the healthy sides as self-control, using magnetic resonance images (MRI).Widths of anterior, superior, and posterior joint spaces (AS, SS, and PS) were measured. The condylar position was described as anterior, centric or posterior, expressed as . Paired-t test and Chi-square test were used to analyze the data. Fifty-four records conformed to the inclusion criteria (mean age of 21.02 years). Widths of SS and PS increased significantly after surgery (P < 0.001) on the operative sides, while joint spaces of healthy sides and AS of operative sides had no significant changes. Dominant location of condyles of operative sides changed from a posterior position to an anterior position, while healthy sides were mostly centric condylar position no matter preoperatively or postoperatively. Therefore, the results of this study indicate that unilateral arthroscopic disc repositioning significantly increases the posterior and superior spaces of the affected joints, without affecting spaces of the healthy sides.

Acupuncture Improves Intestinal Absorption of Iron in Iron-deficient Obese Patients: A Randomized Controlled Preliminary Trial / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Obesity has an adverse effect on iron status. Hepcidin-mediated inhibition of iron absorption in the duodenum is a potential mechanism. Iron-deficient obese patients have diminished response to oral iron therapy. This study was designed to assess whether acupuncture could promote the efficacy of oral iron supplementation for the treatment of obesity-related iron deficiency (ID).</p><p><b>METHODS</b>Sixty ID or ID anemia (IDA) patients with obesity were screened at Beijing Hospital of Traditional Chinese Medicine and were randomly allocated to receive either oral iron replacement allied with acupuncture weight loss treatment (acupuncture group, n = 30) or oral iron combined with sham-acupuncture treatment (control group, n = 30). Anthropometric parameters were measured and blood samples were tested pre- and post-treatment. Differences in the treatment outcomes of ID/IDA were compared between the two groups.</p><p><b>RESULTS</b>After 8 weeks of acupuncture treatment, there was a significant decrease in body weight, body mass index, waist circumference, and waist/hip circumference ratio of patients in the acupuncture group, while no significant changes were observed in the control group. Oral iron supplementation brought more obvious improvements of iron status indicators including absolute increases in serum iron (11.08 ± 2.19 μmol/L vs. 4.43 ± 0.47 μmol/L), transferrin saturation (11.26 ± 1.65% vs. 1.01 ± 0.23%), and hemoglobin (31.47 ± 1.19 g/L vs. 21.00 ± 2.69 g/L) in the acupuncture group than control group (all P < 0.05). Meanwhile, serum leptin (2.26 ± 0.45 ng/ml vs. 8.13 ± 0.55 ng/ml, P < 0.05) and hepcidin (3.52 ± 1.23 ng/ml vs. 6.77 ± 0.84 ng/ml, P < 0.05) concentrations declined significantly in the acupuncture group than those in the control group.</p><p><b>CONCLUSION</b>Acupuncture-based weight loss can enhance the therapeutic effects of iron replacement therapy for obesity-related ID/IDA through improving intestinal iron absorption, probably by downregulating the systemic leptin-hepcidin levels.</p>

Does condylar height decrease more in temporomandibular joint nonreducing disc displacement than reducing disc displacement?: A magnetic resonance imaging retrospective study.

The aim of the study was to compare condylar height changes of anterior disc displacement with reduction (ADDwR) and anterior disc displacement without reduction (ADDwoR) in temporomandibular joint (TMJ) quantitatively, to get a better understanding of the changes in condylar height of patients with anterior disc displacement who had received no treatment, and to provide useful information for treatment protocol. This longitudinal retrospective study enrolled 206 joints in 156 patients, which were divided into ADDWR group and ADDwoR group based on magnetic resonance imaging examination. The joints were assessed quantitatively for condylar height at initial and follow-up visits. Also, both groups were further divided into 3 subgroups according to age: <15 years group, 15 to 21 years group, and 22 to 35 years group. Paired t test and independent t test were used to assess intra- and intergroup differences. The average age of the ADDwR group was 19.65 years with a mean of 9.47 months' follow-up. The follow-up interval of the patients with ADDwoR was 7.96 months, with a mean age of 18.51 years. Condylar height in ADDwoR tended to decrease more than those in ADDwR, especially during the pubertal growth spurt and with the presence of osteoarthrosis, meaning ADDwoR could cause a severe disturbance in mandibular development. Thus, an early disc repositioning was suggested to avoid decrease in condylar height.

Pigmented villonodular synovitis of the temporomandibular joint with intracranial extension.

Pigmented villonodular synovitis is an uncommon benign tumor-like proliferative lesion with an undetermined origin. Involvement of the temporomandibular joint is uncommon. Although pigmented villonodular synovitis is a benign lesion, it can grow with an aggressive pattern, and it extends extra-articularly in most of the reported cases, about one-third of them exhibiting intracranial involvement. The authors reported an additional case of a 47-year-old woman with intracranial extension, who had a history of joint pain and trismus. The preoperative diagnosis was made with arthroscopy. The lesion was completely excised via preauricular approach and condylotomy. The bone defect was covered by the pedicled temporalis myofascial fat flap. The patient has been symptom-free for 40 months postoperatively.

Analgesic effect of fentanyl in neonates during mechanical ventilation / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the analgesic effect and safety of fentanyl in neonates receiving mechanical ventilation.</p><p><b>METHODS</b>Thirty neonates receiving mechanical ventilation between December 2010 and February 2011 were randomized into drug intervention group and control group (n=15 each). In addition to the conventional treatment for both groups, the drug intervention group received fentanyl as the analgesic treatment. Heart rate, respiratory rate, blood pressure changes, and premature infant pain profile (PIPP) score before treatment and at 30 minutes, 2 hours, and 4 hours after treatment were recorded in both groups. Follow-up visits were performed for these infants after discharge, and the CDCC intellectual development scale for infants was applied to measure mental development index (MDI) and psychomotor development index (PDI) at 3, 6, 9, and 12 months of age.</p><p><b>RESULTS</b>The respiratory rate and heart rate decreased in the drug intervention group after fentanyl treatment compared with the control group (P<0.05), and the PIPP scores in the drug intervention group was significantly lower than in the control group (P<0.05). The results of follow-up visits showed no significant differences in MDI and PDI at 3, 6, 9 and 12 months of age between the drug intervention and control groups (P>0.05).</p><p><b>CONCLUSIONS</b>Fentanyl can relieve the pain response in neonates receiving mechanical ventilation, with no long-term adverse effects on neurodevelopment.</p>

Magnetic resonance imaging applied to the diagnosis of perforation of the temporomandibular joint.

OBJECTIVE: To investigate the diagnostic accuracy of magnetic resonance imaging (MRI) for perforation of temporomandibular joint (TMJ). METHODS: Consecutive 1845 patients (2524 joints) diagnosed as internal derangement (ID) of TMJ were collected from April 2003 to March 2010 in our department. All the patients were examined by MRI and treated by arthroscopy or open surgeries. The findings of interpreting MRI were recorded as positive, suspicious and negative according to the MRI radiographic criteria. After comparing the findings of MRI with those of arthroscopy or open surgeries, the numbers of true positive, true negative, false positive and false negative were obtained. Through SPSS16.0, receiver operator characteristic curve (ROC curve) was made with 1-specificity as abscissa and the sensitivity as ordinate, and the area under the ROC curve was calculated. According to the area, the diagnostic value of MRI was evaluated. RESULTS: Arthroscopic or open surgeries findings confirmed that 207 joints had disc perforation among all joints. MRI findings showed 189 joints were positive, 197 joints suspicious, and 2138 joints negative. The true positive accuracy of MRI findings was 102/189 while true negative accuracy was 2075/2138. 42 of the 197 suspicious joints had perforation. The area under the ROC curve was 0.808 (0.77, 0.85), P < 0.05. CONCLUSION: We concluded that MRI proved to be a good modality to diagnose disc perforation of TMJ, and the diagnostic result of disc perforation by MRI had certain guiding significance in our clinical work.

Can puncture increase the risk of intra-articular adhesion in the temporomandibular joint?

PURPOSE: This study aims to compare the incidence and severity of intra-articular adhesion under arthroscopy between patients with and without a history of joint puncture. PATIENTS AND METHODS: Eighty-nine patients with internal derangements of TMJ who underwent arthroscopic disc repositioning and suturing surgery from February 2008 to September 2008 were included in this study. Patients were divided into 2 groups based on whether the patient had undergone joint puncture before surgery or not. The diagnosis of intra-articular adhesion was made according to the manifestation under arthroscopy. Incidence and severity of intra-articular adhesion between these 2 groups was compared. RESULTS: The incidence of intra-articular adhesion in the patients with a history of puncture was 69.23%, which was higher than that in the patients without a history of puncture (24.36%). The difference was statistically significant (P < 0.05). The incidence of severe adhesions in patients with a history of joint puncture was also higher than that in patients without a history of puncture (26.09% vs. 2.56%, P < 0.01). CONCLUSIONS: Puncture may increase the risk of intra-articular adhesion in patients with internal derangement.

Correlations between the polymorphisms of serine hydroxymethyl-transferase 1 gene and the adverse reactions of high-dose methotrexate in children with acute lymphoblastic leukemia / 中国肿瘤临床

Objective:To investigate the correlation between polymorphisms of serine hydroxymethyltransferase1 gene and the adverse reactions of high-dose methotrexate (HD-MTX) in children with acute lymphoblastic leukemia (ALL). Methods:A total of 51 patients with ALL were treated with HD-MTX, and clinical manifestations after HD-MTX treatment were evaluated retrospectively. cD-NA was obtained from mRNA. The polymorphisms of SHMT1 gene containing rs1979277, rs3783, rs1979276, and rs12952556 sites were tested by denaturing gradient gel electrophoresis and direct sequencing. Effects of SHMT1 gene polymorphisms on HD-MTX ad-verse reactions were evaluated. Results:Severe adverse reactions in ALL patients treated with HD-MTX appeared to be mainly neutro-penia and hepatoadverse reactions. The frequency distributions of rs3783 (C>G), rs1979276 (C>T), rs12952556 (A>G), and rs1979277 (C>T) were the same. The polymorphisms of rs1979277 showed no correlation with neutropenia (P>0.05) but rs1979277 CT and TT genotypes were correlated with hepatoadverse reactions (CT: OR=0.129, 95% CI: 0.020 to 0.817, P=0.03; TT: OR=0.103, 95% CI:0.017 to 0.620, P=0.013). Conclusion: No correlation was found between the combination of rs1979277, rs3783, rs1979276, rs12952556, and neutropenia, but one or more of these loci may reduce the risk of hepatoadverse reactions.

Association between glutathione S-transferase pi gene polymorphism and adverse reaction of high-dose methotrexate in children with acute lymphoblastic leukemia / 中国肿瘤临床

Objective:To investigate the association between glutathione S-transferase pi (GSTP1) gene polymorphism and toxici-ties related to high-dose methotrexate (HD-MTX) in children with acute lymphoblastic leukemia (ALL). Methods:GSTP1 genotypes and allelic frequencies in 51 children with ALL were determined by Nest PCR, denaturing gel gradient electrophoresis (DGGE), and DNA sequencing. HD-MTX adverse reactions were analyzed using the National Cancer Institute Common Toxicity Criteria (NCICTC). Results:We identified three SNPs of GSTP1, including rs1695 (A313G), rs1138272 (G439T), and rs4891 (T555C). The wild types, het-erozygous types, and homozygous types of GSTP1 rs1695/rs4891 polymorphisms were detected in 32 cases (62.7%), 16 cases (31.4%), and 3 cases (5.9%), respectively. GSTP1 rs1695/rs4891 polymorphisms included only one heterozygous type and one homozygous type. The allele frequencies of the three SNPs were 21.6%, 2.9%, and 21.6%. The AG+GG/TC+CC genotype of GSTP1 rs1695/rs4891 was associated with decrease in the odds of peripheral hemoglobin (OR=0.25, 95%CI=0.06-1.00, P=0.049). The AG+GG/TC+CC genotype of GSTP1 rs1695/rs4891 in standard and intermediate-risk ALL children was significantly correlated with higher odds of gastrointesti-nal toxicity (OR=0.125, 95%CI=0.02-0.78, P=0.026). Conclusion:GSTP1 rs1695 (A313G)/rs4891 (T555C) gene polymorphism is as-sociated with the reduction of peripheral hemoglobin in ALL children and with the odds of gastrointestinal toxicity in standard and inter-mediate-risk ALL children who receive high-dose methotrexate.

Correlations between 6-mercaptopurine treatment-related adverse reactions in children with acute lymphoblastic leukemia and polymorphisms of thiopurine methyltransferase gene / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore 6-mercaptopurine (6-MP) treatment-related adverse reactions in children with acute lymphoblastic leukemia (ALL), and to assess the association between the polymorphisms of thiopurine methyltransferase (TPMT) gene and these 6-MP related toxicities.</p><p><b>METHODS</b>Total RNA was extracted from bone marrow samples of 46 children with ALL and was then reversed to cDNA. TPMT(*)1S and (*)3C were screened by denaturing gradient gel electrophoresis (DGGE) combining with DNA sequencing. Drug toxicities were classified according to national cancer institute-common toxicity criteria version 3.0 (NCI CTC 3.0). The relationship between TPMT gene polymorphisms and the adverse reactions of 6-MP treatment was analyzed.</p><p><b>RESULTS</b>During the maintenance treatment period, 22% (10/46) of children discontinued 6-MP treatment because of serious adverse reactions. Two children with TPMT(*)3C genotypes presented severe adverse reactions, including 1 child with homozygotic mutation who had 6-MP dose-related myelosuppression and hepatotoxicity. The main side effects of 6-MP were myelosuppression, hepatotoxicity and gastrointestinal reaction. And there were no significant differences between TPMT(*)1S genotypes and severe myelosuppression or hepatotoxicity caused by 6-MP (P>0.05).</p><p><b>CONCLUSIONS</b>TPMT(*)3C may correlate with severe adverse reactions caused by 6-MP.</p>

Marsupialization facilitates eruption of dentigerous cyst-associated mandibular premolars in preadolescent patients.

PURPOSE: The purpose of the present study was to investigate the eruption of dentigerous cyst (DC)-associated mandibular premolars after marsupialization in preadolescents. PATIENTS AND METHODS: The present study was a retrospective cohort study of preadolescent patients with DCs who were treated as outpatients at the Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. For our study, the data from these patients were collected, and the eruption of the premolar teeth, along with related factors, such as the interval to eruption, cusp depth, angulation, cyst size, and eruption space, were analyzed for the cyst group compared with the noncyst control group. RESULTS: The mean age of the patients was 9.1 years. All teeth associated with DCs erupted successfully after marsupialization. The follow-up panoramic radiograph showed that the cysts had disappeared and had been replaced by regenerated bone. The initial panoramic radiograph showed the angulation of the teeth in the cyst group had a significantly larger inclination angle than did the teeth in the noncyst group (P < .05). However, no significant difference was found for cusp depth, root formation, or space measurement. The gender, age, cusp depth, angulation, and eruption space were not factors influencing the eruption of the DC-associated tooth for preadolescent patients in the present study. In addition, the cyst-associated teeth took less time to erupt than the teeth in the control group. CONCLUSIONS: The results of the present study suggest that DC-associated mandibular premolars can erupt spontaneously after marsupialization in preadolescents.

An orthodontic technique for minimally invasive extraction of impacted lower third molar.

PURPOSE: To present a novel orthodontic approach for minimally invasive extraction of impacted mandibular third molars (M3s) close to the inferior alveolar nerve (IAN). PATIENTS AND METHODS: Eight patients (8 M3s) requiring extraction of M3s were included in this study; there were 2 cases of horizontal impaction, 4 of mesioangular impaction, and 2 of vertical impaction. Cone-beam computed tomogram showed that the roots of impacted M3s in 2 cases interrupted the cortices of the mandibular canal, and those in the other 6 cases were very close to the IAN. Orthodontic treatment was performed in this study. The crowns of 5 impacted teeth were surgically exposed before the application of the orthodontic device, whereas bonding was performed directly to the occlusal surface of the other 3 M3s, which had partially erupted. The opposing maxillary M3s were removed in 3 cases. One-step orthodontic extraction was applied to vertically impacted M3s and 2-step treatment was applied to horizontally or mesioangularly impacted M3s. Success was defined as the separation of the impacted tooth from the IAN as visualized on cone-beam computed tomogram. RESULTS: After orthodontic treatment, all impacted M3s were extruded and separated from the IAN (mean, 6.6 months; range, 4 to 10 months), without any neurologic consequences. The average time of extraction was 5 minutes. In all 8 cases, new bone formation occurred distal to the adjacent second molar. CONCLUSION: This orthodontic technique may be a minimally invasive approach for the extraction of impacted M3s adjacent to the IAN, with a decreased risk of paresthesias and with osteoperiodontal advantages.

Anatomic relationship between impacted third mandibular molar and the mandibular canal as the risk factor of inferior alveolar nerve injury.

Our aim was to explore the relation between the site of the mandibular canal and neurosensory impairment after extraction of impacted mandibular third molars. We organised a retrospective study of 537 extractions in 318 patients in which the affected tooth was intersected by the mandibular canal. This was verified by cone-beam computed tomography (CBCT), and we analysed the relation between the site of the canal and the likelihood of injury to the inferior alveolar nerve (IAN) after extraction of the third molar. The relation between the position of the root of the tooth and the mandibular canal was categorised into 4 groups: I=root above the canal; II=on the buccal side; III=on the lingual side; and IV=between the roots. The overall rate of neurosensory impairment after extraction was 6% (33/537). It occurred in 9/272 patients (3%) in group 1, 16/86 (19%) in group II, and in 8/172 (5%) in group III. There was no neurosensory impairment in group IV where the canal was between the roots. There were significant differences between group II and groups I and III (p<0.01), but not between groups I and III (p=0.32). The risk of damage to the inferior alveolar nerve is increased if third molars intersect with the mandibular canal, particularly on its buccal side.

Relationship between the methylenetetrahydrofolate reductase gene polymorphism and adverse reactions of high-dose methotrexate in children with acute lymphocytic leukemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and toxicities after high-dose methotrexate (HD-MTX) infusion in children with acute lymphocytic leukemia (ALL).</p><p><b>METHODS</b>MTHFR variants in 52 children with ALL were determined by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis and sequencing. Toxicities of children who received HD-MTX chemotherapy were evaluated according to the National Cancer Institute-Common Toxicity Criteria (NCI-CTC).</p><p><b>RESULTS</b>The children carrying MTHFR 1298AC had a higher risk of developing thrombocytopenia compared with the carriers of the 1298 AA genotype (OR=13.7, 95%CI=1.18-159.36, P=0.036). There was no significant difference in HD-MTX chemotherapy-related adverse effects between the patients with different MTHFR C677T or G1793A genotypes.</p><p><b>CONCLUSIONS</b>MTHFR A1298C polymorohism may associate with the toxicity of HD-MTX chemotherapy in children with ALL.</p>

Analysis of a G1793A polymorphism of methylenetetrahydrofolate reductase gene in children with acute leukemia / 中华实用儿科临床杂志

Objective To investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) gene G1793A genotype and allele frequency in children with acute leukemia (AL),and to analyze the association between MTHFR gene polymorphism and the risk of AL.Methods Bone marrow samples from 109 childhood patients with AL and peripheral blood samples from 120 control children were obtained to prepare complementary DNAs (cDNAs).The cDNAs were analyzed for MTHFR G1793A polymorphism by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis and sequencing.Results The frequencies of 1793 GG,GA and AA genotyp(s) in MTHFR of the AL patients,acute lymphoblastic leukaemia (ALL) patients,acute myeloid leukaemia (AML) patients and the control children were 83.5％,15.6％,0.9％ ;82.8％,16.1％,1.1％ ;86.4％,13.6％,0％ and 89.2％,7.5％,3.3％,respectively.While the A allele frequency of MTHFR G1793A in those group were 8.7％,9.2％,6.8％ and 7.1％,respectively.However,no significant difference was observed in MTHFR G1793A genotypes or A allele frequency between the patients and controls (all P ＞0.05).The MTHFR 1793 GA + AA genotype was linked with an increased risk of AL,ALL and AML (AL:OR =1.71,95％ CI:0.77-3.80,P =0.19;ALL:OR =2.00,95％ CI:0.85-4.49,P =0.12;AML:OR =1.36,95％CI:0.33-5.62,P =0.67),but no significant difference in our population(all P ＞ 0.05).The A allele frequency of MTHFR G1793A in the study was 7.9％,significantly different from those reported in Ashkenazi Jewish,African-American,Brazilian,Austrian,Irau and Harbin populations (all P ＜0.05).Conclusion MTHFR G1793A may be not a genetic susceptibility factor for pediatric AL,but may exhibit an ethnic difference.

Association of single nucleotide polymorphism of methylenetetrahydrofolate reductase gene with susceptibility to acute leukemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess whether polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene is associated with susceptibility to acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML) in Chinese Han children.</p><p><b>METHODS</b>The study has included 87 patients with ALL, 22 patients with AML and 120 healthy controls. All subjects were analyzed with reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis and sequencing.</p><p><b>RESULTS</b>A 677CT genotype of the MTHFR gene was associated with decreased risk of ALL (OR=0.23, 95%CI: 0.07-0.79). However, MTHFR A1298C genotypes were not associated with the risk of either disease. 677TT/1298AA and 677CC/1298AC genotypes were associated with increased risk of ALL(OR=3.78, 95% CI: 1.38-10.40; OR=3.17, 95% CI: 1.18-8.53, respectively), whereas the genotype 677CT/1298AA was associated with susceptibility to AML (OR=0.23, 95% CI: 0.06-0.97).</p><p><b>CONCLUSION</b>Our data suggested that C677T polymorphism of MTHFR gene may increase the risk of childhood AML.</p>

Synovial chondromatosis of the temporomandibular joint with articular eminence extension.

Synovial chondromatosis (SC) of the temporomandibular joint is a rare benign lesion that can extend to the adjacent bony tissue. Most studies in the literature reported cases of SC of the temporomandibular joint with extension to the skull base, but there has been no report of intracranial extension through the articular eminence. The current study reports on the case of SC with articular eminence extension that was treated via combined trans-zygomatic tempora and preauricular approach and acquired good effect with 44 months of follow-up.

Arthroscopic management for synovial chondromatosis of the temporomandibular joint: a retrospective review of 33 cases.

PURPOSE: To present clinical, radiologic, and arthroscopic results of patients with synovial chondromatosis of the temporomandibular joint; to introduce a technique for removal of loose bodies in different areas; and to summarize the indications of therapeutic arthroscopy according to the magnetic resonance imaging (MRI) features. PATIENTS AND METHODS: From April 2001 to April 2010, 33 consecutive patients underwent arthroscopy. Their demographics, clinical manifestations, imaging studies, arthroscopic findings, treatments, and outcomes were reviewed. RESULTS: The predominant symptoms were pain, limitation of mouth opening, and joint sounds. Obvious joint effusion was shown on MRI in 21 of 33 patients. Mass lesions were shown on MRI in 29 of 33 cases. The presence of loose bodies was shown in 31 cases under an arthroscope. Synovial hyperplasia was noted in 12 patients. Bony erosion of the articular surface was discovered in 11 patients. Thirty-two patients underwent therapeutic arthroscopy. Smaller loose bodies were commonly removed with joint lavage or biopsy forceps in 24 patients. Fragmentation with forceps or a wider additional incision was applied to remove larger loose bodies in 7 patients. Debridement was applied to remove intrasynovial lesions in 7 patients. Coblation was used to remove the hyperplastic synovium in 10 of 32 patients. Eight patients were lost to follow-up. The mean follow-up period was 38 months. No recurrence was suspected clinically and radiologically. CONCLUSIONS: Therapeutic arthroscopy was appropriate for patients with separate mass lesions and no extra-articular extension. Surgical treatment comprised thorough removal of loose bodies and affected synovial tissues.