[Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation].

Objective: FAM83H is one of the major pathogenic genes of amelogenesis imperfecta (AI). Previous studies focused on the abnormal enamel development and mineralization caused by the mutations in FAM83H. Here we aimed to observe other effects of FAM83H mutations on tooth eruption besides AI through clinical case analysis. Methods: Published AI cases with FAM83H mutations were searched through PubMed database, and the characteristics of tooth eruption of each cases were counted and analyzed. The literature search range was from January 1, 2008 to February 28, 2023, using the keywords FAM83H and amelogenesis imperfecta. The included literature must provide the detailed radiographic imaging or dental eruption information of AI patients, as well as FAM83H gene mutation information. The basic clinical information, tooth phenotypes, and mutations of all the enrolled cases were collected and analyzed in order to find the characteristics of abnormal tooth eruption. Results: Among 45 papers about FAM83H related to AI, twenty meeting the inclusion criteria were selected, involving 50 AI patients carrying FAM83H mutations who had radiographic image data or the detailed description of tooth eruption. A total of 34 abnormal erupted teeth were from 12 patients (12/50, 24%), among which 85% (29/34) had clear eruption path without any eruption obstructions, either embedded (25/34, 74%) or partially erupted (4/34, 12%). Tooth position analysis found that abnormal eruption of canines and second molars accounted for the highest proportion, accounting for 38% (13/34) respectively. Conclusions: The mutations in FAM83H may lead to amelogenesis imperfecta as well as abnormal tooth eruption at specific tooth positions.

[Expert consensus on the biobank development of oral genetic diseases and rare diseases and storage codes of related biological samples from craniofacial and oral region].

The biological samples of oral genetic diseases and rare diseases are extremely precious. Collecting and preserving these biological samples are helpful to elucidate the mechanisms and improve the level of diagnose and treatment of oral genetic diseases and rare diseases. The standardized construction of biobanks for oral genetic diseases and rare diseases is important for achieving these goals. At present, there is very little information on the construction of these biobanks, and the standards or suggestions for the classification and coding of biological samples from oral and maxillofacial sources, and this is not conducive to the standardization and information construction of biobanks for special oral diseases. This consensus summarizes the background, necessity, principles, and key points of constructing the biobank for oral genetic diseases and rare diseases. On the base of the group standard "Classification and Coding for Human Biomaterial" (GB/T 39768-2021) issued by the National Technical Committee for Standardization of Biological Samples, we suggest 76 new coding numbers for different of biological samples from oral and maxillofacial sources. We hope the consensus may promote the standardization, and smartization on the biobank construction as well as the overall research level of oral genetic diseases and rare diseases in China.

[Application status and prospect of genetic counseling in stomatology in China].

Oral genetic diseases and rare diseases are special oral diseases with low prevalence, complex clinical characteristics and serious condition. In addition to regular oral diagnosis and treatment, multidisciplinary diagnosis and treatment including genetic counseling should also be carried out for such diseases. This article reviews the basic content of genetic counseling, the current application status of genetic counseling in the field of stomatology in China and the problems faced, such as the lack of genetic counseling personnel and the popularization of genetic counseling knowledge. Aims to promote the application of genetic counseling in dental practice in the future, it is proposed to carry out genetic training for stomatologists, promote the integration of medical genetic expertise and oral knowledge, as well as discipline cooperation, and strengthen the standardization of genetic counseling for oral diseases.

[Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].

The classification as well as the clinical manifestations of hereditary malformations of dentin are of great concern and have been deeply elucidated. The understanding of its genetic basis also increases progressively. Dentin sialophosphoprotein (DSPP) is the pathogenic gene of dentinogenesis imperfecta type Ⅱ, dentinogenesis imperfecta type Ⅲ and dentin dysplasia type Ⅱ. In this article, the classification of DSPP mutations as well as the resultant dysfunction of the mutant DSPP are summarized respectively and the corresponding clinical manifestations are analyzed. This work will provide a reference for the diagnosis and treatment of hereditary malformations of dentin.

[Genetic distribution in Chinese patients with hereditary peripheral neuropathy].

OBJECTIVE: To analyze the distribution characteristics of hereditary peripheral neuropathy (HPN) pathogenic genes in Chinese Han population, and to explore the potential pathogenesis and treatment prospects of HPN and related diseases. METHODS: Six hundred and fifty-six index patients with HPN were enrolled in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to May 2022. The PMP22 duplication and deletion mutations were screened and validated by multiplex ligation probe amplification technique. The next-generation sequencing gene panel or whole exome sequencing was used, and the suspected genes were validated by Sanger sequencing. RESULTS: Charcot-Marie-Tooth (CMT) accounted for 74.3% (495/666) of the patients with HPN, of whom 69.1% (342/495) were genetically confirmed. The most common genes of CMT were PMP22 duplication, MFN2 and GJB1 mutations, which accounted for 71.3% (244/342) of the patients with genetically confirmed CMT. Hereditary motor neuropathy (HMN) accounted for 16.1% (107/666) of HPN, and 43% (46/107) of HPN was genetically confirmed. The most common genes of HMN were HSPB1, aminoacyl tRNA synthetases and SORD mutations, which accounted for 56.5% (26/46) of the patients with genetically confirmed HMN. Most genes associated with HMN could cause different phenotypes. HMN and CMT shared many genes (e.g. HSPB1, GARS, IGHMBP2). Some genes associated with dHMN-plus shared genes associated with amyotrophic lateral sclerosis (KIF5A, FIG4, DCTN1, SETX, VRK1), hereditary spastic paraplegia (KIF5A, ZFYVE26, BSCL2) and spinal muscular atrophy (MORC2, IGHMBP, DNAJB2), suggesting that HMN was a continuum rather than a distinct entity. Hereditary sensor and autosomal neuropathy (HSAN) accounted for a small proportion of 2.6% (17/666) in HPN. The most common pathogenic gene was SPTLC1 mutation. TTR was the main gene causing hereditary amyloid peripheral neuropathy. The most common types of gene mutations were p.A117S and p.V50M. The symptoms were characterized by late-onset and prominent autonomic nerve involvement. CONCLUSION: CMT and HMN are the most common diseases of HPN. There is a large overlap between HMN and motor-CMT2 pathogenic genes, and some HMN pathogenic genes overlap with amyotrophic lateral sclerosis, hereditary spastic hemiplegia and spinal muscular atrophy, suggesting that there may be a potential common pathogenic pathway between different diseases.

Genome-wide selection signal analysis of Australian Boer goat reveals artificial selection imprinting on candidate genes related to muscle development.

As one of the best-known commercial goat breeds in the world, Boer goat has undergone long-term artificial selection for nearly 100 years, and its excellent growth rate and meat production performance have attracted considerable worldwide attention. Herein, we used single nucleotide polymorphisms (SNPs) called from the whole-genome sequencing data of 46 Australian Boer goats to detect polymorphisms and identify genomic regions related to muscle development in comparison with those of 81 non-specialized meat goat individuals from Europe, Africa, and Asia. A total of 13 795 202 SNPs were identified, and the whole-genome selective signal screen with a π ratio of nucleotide diversity (πcase /πcontrol ) and pairwise fixation index (FST ) was analyzed. Finally, we identified 1741 candidate selective windows based on the top 5% threshold of both parameters; here, 449 candidate genes were only found in 727 of these regions. A total of 433 genes out of the 449 genes obtained were annotated to 2729 gene ontology terms, of which 51 were directly linked to muscle development (e.g., muscle organ development, muscle cell differentiation) by 30 candidate genes (e.g., JAK2, KCNQ1, PDE5A, PDLIM5, TBX5). In addition, 246 signaling pathways were annotated by 178 genes, and two pathways related to muscle contraction, including vascular smooth muscle contraction (ADCY7, PRKCB, PLA2G4E, ROCK2) and cardiac muscle contraction (CACNA2D3, CASQ2, COX6B1), were identified. The results could improve the current understanding of the genetic effects of artificial selection on the muscle development of goat. More importantly, this study provides valuable candidate genes for future breeding of goats.

[Clinical value of emergency endovascular embolization in the interventional treatment for oral hemorrhage caused by carcinoma].

To evaluate the clinical value of emergency endovascular embolization in the interventional treatment for oral hemorrhage caused by carcinoma, 32 patients with oral hemorrhage caused by carcinoma, who received emergency endovascular embolization due to unsatisfactory hemostatic effect of conventional conservative treatment in the First Affiliated Hospital of Zhengzhou University from January 2014 to December 2019, were included in this study and their clinical data, laboratory data and imaging information were retrospectively analyzed. There were 16 males and 16 females, aged (60.6±13.6) years (34-88 years). Technical successful rate of emergency endovascular embolization, immediate successful rate of controlling hemorrhage, blood pressure before and after operation, hemoglobin before and after operation, postoperative complications and recurrence rate of oral hemorrhage were statistically analyzed. Results showed that technical successful rate of operation and immediate successful rate of controlling oral hemorrhage are both 100% (32/32). Recurrent oral hemorrhage occurred in 4 patients (13%). The hemorrhagic shock symptoms of all patients were significantly improved after interventional therapy. After operation, local swelling happened in 34% (11/32) patients and intermittent local pain happened in 22% (7/32) within 24 hours; the swelling and the pain gradually disappeared from 2nd to 5th days. Mild complications of transient fever happened in 9% (3/32) patients and disappeared spontaneously in the short term. No serious complications such as blindness, cerebrovascular accident or central nervous system disturbance occurred in all patients after operations. During the whole follow-up period (1 to 12 months), a total of 8 patients died. The causes of death were progression and metastasis of carcinoma (n=4), heart failure (n=2), severe pneumonia (n=1) and respiratory failure caused by recurrent oral hemorrhage (n=1). Owing to the remarkable short-term curative effect, repeatable operation, low recurrence rate of oral hemorrhage and low incidence of complications, emergency endovascular embolization can be used in the clinical therapy and application of oral hemorrhage caused by carcinoma.

[The first edition of oral rare diseases list].

Oral rare diseases are characterized by low prevalence and complex clinical features. It is not clear that which kind of diseases belong to oral rare diseases. In order to make a consensus and improve the level of diagnosis and treatment of oral rare diseases, Duan Xiaohong, the first chair of Society of Oral Genetic Diseases and Rare Diseases, Chinese Stomatological Association, progosed the first edition of oral rare diseases list, and the whole society discussed the list and finally made an agreement. The list includes 139 rare diseases with typical oral and craniofacial characteristics, and provides their Chinese names, English names, International Classification of Diseases 11th Revision (ICD-11) codes, Online Mendelian Inheritance in Man (OMIM) numbers, prevalence and simple interpretations.

Arsenic trioxide-eluting Callispheres beads is more effective and equally tolerant compared with arsenic trioxide/lipiodol emulsion in the transcatheter arterial chemoembolization treatment for unresectable hepatocellular carcinoma patients.

OBJECTIVE: This study aimed to investigate the efficacy and safety of transcatheter arterial chemoembolization (TACE) using CalliSpheres beads loading with arsenic trioxide (ATO) (CBATO) in unresectable hepatocellular carcinoma (HCC) patients. PATIENTS AND METHODS: Eighty-six unresectable HCC patients about to receive TACE with CBATO or conventional TACE (cTACE) with ATO were consecutively enrolled and divided into CBATO group (N=38) or cTACE group (N=48), respectively. Treatment response at 3 months (M3) and 6 months (M6) after the first treatment, and the progression-free survival (PFS) and overall survival (OS) were evaluated. Also, the biochemical indexes were documented before treatment, at 7 days, M3, and M6 after the first treatment. RESULTS: The 3-month complete response (CR), overall response rate (ORR), and the 6-month CR, ORR, as well as the disease control rate (DCR) were increased in CBATO group compared with the cTACE group. Also, the TACE with CBATO was an independent predicting factor for lower stable disease+ progressive disease (non-ORR). Besides, PFS and OS were longer in CBATO group compared with cTACE group. Referring to biochemical indexes (including liver function indexes, kidney function indexes, and blood routine indexes), no difference between the two groups was found. As for adverse events, the prevalence of nausea and vomiting was decreased, while the prevalence of other adverse events were similar in CBATO group compared to cTACE group. CONCLUSIONS: TACE with CBATO is more effective and equally tolerant compared with cTACE in treating unresectable HCC patients.

Influence of miR-34a on cerebral neuronal apoptosis in rats with cerebral ischemia reperfusion through the Notch1 signaling pathway.

OBJECTIVE: To explore the influence and the underlying mechanism of micro-ribonucleic acid (miR)-34a on cerebral neuronal apoptosis in rats with cerebral ischemia-reperfusion (CIR). MATERIALS AND METHODS: 60 adult male Wistar rats were randomly divided into 3 groups: Sham group, CIR group and miR-34a knockdown group. The rat model of CIR was established using the suture occlusion method. The expression level of miR-34a in lesion tissues in the three groups was determined via Reverse Transcription-Polymerase Chain Reaction (RT-PCR). The pathological injury of brain tissues was detected via hematoxylin-eosin (HE) staining and the infarction region in each group was evaluated via triphenyl tetrazolium chloride (TTC) staining. The terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) staining was performed to measure the cerebral neuronal apoptosis level. The level of Nissl's body in each group was detected via Nissl's staining. The expression level of the platelet-derived neurotrophic factor (PDNF) and Notch1/hypoxia-inducible factor-1α (HIF-1α) signaling pathway-related proteins in brain tissues were detected via immunohistochemistry and Western blotting, respectively. RESULTS: The expression level of miR-34a in brain tissues of the CIR group was significantly increased compared to that of the Sham group (p < 0.05). After the intervention with miR-34a, the infarction area of brain tissues was markedly reduced when comparing to the CIR group (p < 0.05). In addition, the results of HE staining and Nissl staining revealed that CIR treatment led to edema in cerebral neurons, disorderly arranged neurons, and remarkably decreased number of Nissl's bodies. However, miR-34a knockdown following CIR significantly alleviated the brain tissue injury and markedly increased the number of Nissl's bodies (p < 0.05). The results of TUNEL staining also indicated that miR-34a siRNA could remarkably reverse the cerebral neuronal apoptosis caused by CIR in rats (p < 0.05). According to the immunohistochemical staining results, the expression of PDNF in brain tissues declined in the CIR group, while enhanced in the miR-34a siRNA group (p < 0.05). Furthermore, the Western blotting results manifested that miR-34a siRNA could up-regulate the Notch1 and HIF-1α protein expressions in brain tissues of CIR rats. CONCLUSIONS: Our data demonstrated that the miR-34a knockdown could alleviate the brain tissue injury and neuronal apoptosis by activating the Notch1/HIF-1α signaling pathway CIR-treated rats.

Effect of NLK on the proliferation and invasion of laryngeal carcinoma cells by regulating CDCP1.

OBJECTIVE: The morbidity and mortality of laryngeal cancer are increasing rapidly, seriously threatening human health. There are several causes of laryngeal cancer, but the exact molecular mechanism is unclear. Finding the molecular targets of laryngeal cancer has become an emerging hot spot. Nemo-like kinase (NLK) is abnormally expressed in tumors, but its role in laryngeal cancer has not been reported. PATIENTS AND METHODS: Real Time PCR and Western blot were used to detect NLK mRNA and protein expression in cancer tissues and adjacent tissues of laryngeal cancer patients. The laryngeal carcinoma cell line Hep-2 cells were cultured in vitro and randomly divided into three groups: control group, NC group, and NLK siRNA group followed by the analysis of cell proliferation by MTT assay, Caspase3 activity, and cell invasion by the transwell chamber. MMP-9 and CDCP1 expression was measured by Western blot. RESULTS: NLK mRNA and protein expression was significantly increased in laryngeal carcinoma tissues compared with those in adjacent tissues (p<0.05). NLK siRNA transfection into Hep-2 cells significantly down-regulated NLK expression, inhibited Hep-2 cell proliferation and invasion, increased Caspase-3 activity with statistical differences compared to control group (p<0.05). Down-regulation of NLK expression in Hep-2 cells inhibited MMP-9 expression and decreased CDCP1 expression. CONCLUSIONS: NLK is expressed in tumor tissues of patients with laryngeal cancer. The down-regulation of NLK expression may play a role in the proliferation, apoptosis, and invasion of laryngeal carcinoma cells and it is possible by regulating MMP-9 and CDCP1 expression.

[Clinical features of long segmental myelopathy caused by nitrous oxide].

OBJECTIVE: To analyze the clinical and imaging characteristics of the neurological damage caused by nitrous oxide (N2O). METHODS: In the study, 10 patients in the Department of Neurology of China-Japan Friendship Hospital from October 2015 to February 2018 were retrospectively analyzed for the demographic data, the history of inhaled N2O, clinical features, blood examination, electrophysiological examination, spinal magnetic resonance imaging and therapeutic efficacy profiles. RESULTS: The male-to-female ratio was 4:6 and it presented with an age-of-onset 17-26 years [the average age: (20.80±3.12) years]. The time from inhaled N2O to onset was 1 month to 1 year [the average time: (6.95±4.19) months]. Paralysis in all the patients and numbness in 9 patients were the main clinical features, while positive Lhermitte's sign in 3 patients, urinary and defecation disturbance in 4 patients were also found. Blood examination indicated anemia in 2 patients, giant cell anemia in 1 case and small cell hypochromic anemia in 1 case. 3 cases had been treated with vitamin B12 in an external hospital, and the other 7 cases had abnormal increase in homocysteine levels. Electrophysiological examinations showed sensory and motor nerve involvement in 9 patients, and motor nerve involvement in 1 patient. The severity of lower extremity lesion was significantly heavier than that of upper extremity. Spinal magnetic resonance imagings showed that long segmental lesions were present in the cervical spinal cord of all the patients, 3 cases with long segmental lesions of the thoracic cord and 2 cases with spinal cord swelling. In 6 cases, the horizontal axis had an "inverted V-type" T2 high signal, 1 case was classified as "crescent", and 3 cases were "eight-shaped". The symptoms in these 10 cases were alleviated in varying degrees after stopping the inhalation of nitrous oxide, actively supplementing high doses of vitamin B12 and doing early rehabilitation exercises. CONCLUSION: Myelopathy with nitrous oxide presents as paralysis and numbness in limb extremities. In imaging, cervical spinal cord damage is common, accompanied by thoracic spinal cord damage. The horizontal axis is more common in the "inverted V-type". Treatment with high doses of vitamin B12 is effective.

Commentary on "A novel treatment strategy for newly diagnosed high-grade T1 bladder cancer: Gemcitabine and cisplatin adjuvant chemotherapy-A single-institution experience."

BACKGROUND: Management of high-grade T1 (formerly T1G3) bladder cancer continues to be controversial. Should patients with T1G3 bladder cancer have an immediate radical cystectomy or should they receive intravesical bacillus Calmette-Guérin preserving bladder? Gemcitabine and cisplatin (GC) adjuvant chemotherapy may help to strike a balance between intravesical and early cystectomy. For purposes of this study, we continue to refer high-grade T1 lesion as "T1G3." OBJECTIVE: To evaluate the characteristics and the long-term outcome of GC adjuvant chemotherapy in T1G3 bladder cancer after transurethral resection of bladder tumor (TURBT). MATERIALS AND METHODS: We, retrospectively, reviewed 48 patients who were newly diagnosed with T1G3 bladder cancer between January 2009 and December 2012. A total of 48 patients received 4 cycles of GC adjuvant chemotherapy after TURBT. One month after 4 cycles of GC adjuvant chemotherapy, response was evaluated by re-TURBT. Median follow-up was 59.5 (range: 18-70) months, all patients have been observed for more than 3 years. Salvage cystectomy was recommended for patients with persistent disease and for tumor progression after initial complete response. RESULT: Complete response was achieved in 44 (91.7%) patients. Of complete responders, 5 patients experienced recurrence and 5 patients showed progression. The progression rate and disease-specific survival rate were 10.4% and 91.7% at 3 years, respectively. More than 80% of survivors preserved their bladder. Kaplan-Meier curves showed that concomitant carcinoma in situ (CIS) was the only factor that had an influence on progression-free survival (P = 0.022) and disease-specific survival (P = 0.017). Concomitant CIS was the prognostic factor for progression rate and disease-specific survival rate at 3 years (P = 0.008 and P = 0.035). CONCLUSION: GC adjuvant chemotherapy is a safe conservative treatment for T1G3 bladder cancer, but effective is really a phase II study. Patients with T1G3 bladder cancer with concomitant CIS should be treated more aggressively because of the high risk of progression.

Effects of propofol or sevoflurane anesthesia on the perioperative inflammatory response, pulmonary function and cognitive function in patients receiving lung cancer resection.

OBJECTIVE: To investigate the effects of propofol and sevoflurane anesthesia on the inflammatory response, pulmonary function and cognitive function of patients undergoing lung cancer resection and their differences. PATIENTS AND METHODS: 62 patients with lung cancer who underwent pulmonary lobectomy from January 2014 to January 2016 in Jining First People's Hospital were selected and randomly divided into two groups: the propofol group (n=31) and the sevoflurane group (n=31). Patients in the propofol group were treated with intravenous injection of propofol for anesthesia maintenance, whereas those in the sevoflurane group inhaled sevoflurane for anesthesia maintenance. All patients underwent surgical resection of the lobes by the same operator. Changes in the inflammatory response and pulmonary function of patients in the perioperative period were recorded before the induced anesthesia (t1), before one-lung ventilation (t2), after sternal closure by operation (t3) and at 24 h after operation (t4), respectively; the extubation time, eye opening time and response time of two groups of patients were recorded; mini-mental state examination (MMSE) was used to evaluate the changes in cognitive function in patients and detect the concentration of S100 calcium-binding protein ß (S100ß) in serum of patients before the induced anesthesia and at 24 h after operation, respectively. RESULTS: The difference of partial pressure of alveolar-arterial oxygen (A-aDO2), respiratory index (RI) and intra-pulmonary shunt fraction (Qs/Qt) of two groups of patients at t2 and t3 were significantly higher than those at t1 (p<0.01); during t2-t3, A-aDO2, RI and Qs/Qt of patients in the propofol group were significantly lower than those of patients in the sevoflurane group (p<0.05); the levels of interleukin-6 (IL-6) and matrix metalloproteinase-9 (MMP-9) in serum of patients after the induced anesthesia in the propofol group were significantly higher than those at t1, while the level of interleukin-10 (IL-10) was lower than that at t1 (p<0.01); during t2-t4, the levels of IL-6 and MMP-9 in serum of patients in the propofol group were significantly lower than those in patients in the sevoflurane group, while the level of IL-10 was significantly higher than that in patients in the sevoflurane group (p<0.05). The postoperative extubation time, eye opening time and response time of patients in the propofol group were significantly shorter than those of patients in the sevoflurane group (p<0.05). From intraoperative period to 24 h after operation, the prevalence rate of adverse reactions in patients in the propofol group was significantly lower than that in patients in the sevoflurane group (p<0.05); MMSE scores of two groups of patients at t4 were significantly lower than those at t1, while the concentration of S100ß was significantly higher than that at t1 (p<0.01); at t4, the MMSE score of patients in the propofol group was significantly higher than that in the sevoflurane group, while the concentration of S100ß was lower than that of patients in the sevoflurane group (p<0.05). CONCLUSIONS: Compared with sevoflurane anesthesia, propofol anesthesia can significantly reduce the perioperative inflammatory response in patients receiving lung cancer resection, shorten the recovery time after operation, protect the pulmonary function of patients, improve postoperative cognitive function, and reduce the prevalence rate of intraoperative adverse reactions.

Abnormal placentation: the role of MRI in diagnosis and therapeutic planning.

AIM: To evaluate the role of magnetic resonance imaging (MRI) for diagnosis and therapeutic planning in patients with abnormal placentation (AP). MATERIALS AND METHODS: Overall, 168 consecutive patients with suspected placenta previa and AP were referred for MRI before caesarean section (CS). The ability of MRI to properly detect and assess abnormal placentation was correlated with findings at CS, which were considered the reference standard diagnostic tool. For each patient, MRI was used to determine whether the AP was suitable for complete/incomplete delivery, hysterectomy, or conservative treatment. Treatment planning with MRI was prospectively compared with the actual treatment that had been carried out in each patient decided at CS. RESULTS: Placenta previa was detected at MRI in 63 patients and AP in 105 patients; 16 patients had false-positive MRI findings, and three had false-negative findings. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of MRI compared to findings at CS were 88.9% (149 of 168), 96.7% (89 of 92), 78.9% (60 of 76), 84.8% (89 of 105), and 95.2% (60 of 63), respectively. Treatment planning could be correctly made on the basis of MRI with accuracy, sensitivity, specificity, PPV, and NPV of 97%, 100%, 92.6%, 95.2%, and 100%, respectively. CONCLUSIONS: MRI offers high diagnostic accuracy in the detection of AP, and it may be helpful in the detailed planning of treatment.

C-arm CT-guided renal arterial embolisation followed by radiofrequency ablation for treatment of patients with unresectable renal cell carcinoma.

AIM: To explore the value of using flat detector (FD) equipped angiographic C-arm CT (CACT) systems in treating unresectable renal cell carcinoma (RCC) by selective renal arterial embolisation (RAE) followed by radiofrequency ablation (RFA) (RAE-RFA). MATERIALS AND METHODS: A total of 28 patients who were not candidates for surgery were enrolled. The average size of tumours was 6.7±2.2 cm (range 4.1-9.6 cm). Twenty-eight tumours were treated with CACT-guided RFA, 5-7 days after CACT-guided RAE. RESULTS: CACT-guided RAE-RFA was technically successful in all patients. Tumour enhancement disappeared after a single RAE-RFA session in 20 patients, after two RAE-RFA sessions in four patients and after three RAE-RFA sessions in the other four patients. One patient died of lung metastasis and haematuria 13 months after RAE-RFA, and another patient died of pulmonary heart disease 23 months after repeat RAE-RFA. In the 26 living patients, tumours remained controlled during a mean follow-up period of 27 months and showed significant reduction in tumour size (6.7±2.2 cm to 3.9±1.7 cm, p<0.01). There were no significant changes in creatinine levels or urea nitrogen concentrations before and after the last RAE-RFA (p>0.05). There were no serious complications during and after the procedure. CONCLUSION: CACT-guided RAE followed by RFA appears to be a safe and effective technique for treating patients with inoperable RCC.

Prognostic value of miR-141 downregulation in gastric cancer.

Previous research has shown that microRNA-141 (miR-141) expression levels are associated with survival in several types of cancer. In the present study, we investigated the clinical significance and prognostic value of miR-141 in gastric cancer. Paired tissue specimens (tumor and adjacent normal mucosa) from 95 patients with gastric cancer were obtained at the Department of General Surgery, Xiangya Hospital, Central South University from March 2009 to February 2014. The levels of miR-141 in cancerous and corresponding non-cancerous tissues were detected by quantitative reverse transcription-polymerase chain reaction. Associations between clinicopathological parameters and miR-141 expression were evaluated using chi-square tests. Overall survival was calculated and survival curves were plotted using the Kaplan-Meier method; differences between groups were compared using log-rank tests. Compared to the matched normal gastric mucosa, gastric cancer tissues had significantly lower miR-141 expression levels (P < 0.001). This decreased miR-141 expression was significantly associated with tumor differentiation (P = 0.044), positive lymph node metastasis (P = 0.010), distant metastasis (P < 0.001), and advanced tumor-node-metastasis (TNM) stage (P < 0.001). Furthermore, a significant relationship was found between miR-141 expression and overall survival (P = 0.012, log-rank test). Cox regression analysis revealed that lymph node metastasis (P = 0.003), distant metastasis (P = 0.001), TNM stage (P < 0.001), and miR- 141 expression (P = 0.007) were independent prognostic factors in patients with gastric cancer. Our data provide evidence that the downregulation of miR-141 may contribute to the aggressive progression and poor prognosis of human gastric cancer.