[Technical exploration and early results of two-port total thoracoscopic aortic-mitral double-valve replacement].

Objective: To examine the clinical outcomes of patients undergoing total thoracoscopic aortic-mitral double-valve replacement. Methods: This is a retrospective case series study. The clinical data of 50 patients who underwent double-valve replacement under a total thoracoscopic two-port approach from November 2021 to August 2022 in the Department of Cardiovascular Surgery, Fujian Medical University Union Hospital were retrospectively analyzed. There were 32 males and 18 females, with an age of (55.3±8.8) years (range: 21 to 62 years). Among them, 36 cases had rheumatic heart disease and 14 cases had infective endocarditis. The 3rd intercostal space between the right anterior axillary line and the midclavicular line was selected as the main operating hole, the total thoracoscopic double-valve replacement were successfully carried out. Baseline data, intraoperative information, surgical outcomes, and postoperative complications were collected for all patients. Results: The cardiopulmonary bypass time was (168.2±30.9) minutes (range: 125 to 187 minutes), the aortic cross-clamping time was (118.8±16.5) minutes (range: 96 to 147 minutes). Five patients received bioprosthetic valves, and 45 received mechanical prosthetic valves. Postoperative mechanical ventilation lasted (9.6±3.4) hours (range: 5.1 to 14.2 hours), the ICU stay was (24.8±7.3) hours (range: 16.3 to 30.1 hours), and the postoperative hospital stay was (6.5±1.2) days (range: 5.0 to 8.0 days). Four patients received red blood cell transfusions of (2.7±0.9) units (range: 2 to 4 units), and the postoperative chest drainage volume was (222.1±56.3) ml (range: 175 to 289 ml). No deaths occurred intraoperatively or in the early postoperative period. One patient required reoperation due to bleeding in the aortic incision. Three patients had mild to moderate paravalvular leakage around the prosthetic aortic valve, with no cases of third-degree atrioventricular block or conversions to median sternotomy. Conclusions: The early outcomes of total thoracoscopic double valve replacement surgery are satisfactory, demonstrating safety and efficacy. This surgical approach expands the scope of total thoracoscopic cardiac surgery, which warrants further investigation and research.

Differentiation between atypical sinonasal non-Hodgkin's lymphoma and inverted papilloma.

AIM: To seek additional magnetic resonance imaging (MRI) features to improve the accuracy of differentiation between atypical sinonasal non-Hodgkin's lymphoma (NHL) and inverted papilloma (IP) using conventional MRI and apparent diffusion coefficient (ADC) maps. MATERIALS AND METHODS: MRI examinations from 44 atypical cases (21 NHLs and 23 IPs) in sinonasal regions were reviewed retrospectively. Imaging features included tumour laterality, extension, T1-weighted imaging (WI)/T2WI signal intensity homogeneity and ratios, enhancement homogeneity and ratios, and ADCmean. RESULTS: In cases of NHL, homogeneous signal intensity was often observed on T2WI, which was homogeneous and significantly less enhanced than the turbinate, with lower ADCmean. Whereas in IPs, heterogeneous signal intensity was seen on T2WI, which was heterogeneous and of comparable enhancement to the turbinate, and higher ADCmean values were commonly seen. An ADCmean cut-off point of 1.10 × 10-3 mm2/s achieved 100% sensitivity, 90% specificity, and 90% accuracy. In addition, special features were observed that support the distinction between the two tumours, including intestinal pattern enhancement in NHL and spot-like appearance on T2WI and enhancement in IP. CONCLUSIONS: ADCmean was the most valuable metric for differentiating between the atypical sinonasal NHLs and IPs.

[Analysis of the risk factors for poor prognosis and recurrence in patients with anti-NMDAR encephalitis].

To investigate the risk factors of poor prognosis and recurrence in patients with anti-NMDAR encephalitis. A single center, observational cohort study was used to retrospectively analyze 44 patients with anti NMDAR encephalitis hospitalized in the Department of Neurology of Beijing Tong Ren Hospital from January 2014 to October 2020. The results showed that the interval from onset to immunotherapy in the poor prognosis group was significantly longer than that in the good prognosis group (t=2.045,P=0.047), and the course of disease in the poor prognosis group was significantly longer than that in the good prognosis group (t=4.127,P=0.000 2). The number of patients with clinical manifestations of dyskinesia was significantly increased (Fisher exact test: P=0.014). The patients with abnormal brain MRI in the poor prognosis group were significantly more than those in the good prognosis group (Fisher exact test: P=0.017), and the patients with slow wave>50% in the poor prognosis group were significantly more than those with slow wave <50% (Fisher exact test: P<0.001). Patients with the first onset of immunotherapy time <3 months, long course of disease, high intracranial pressure, and high cerebrospinal fluid protein are prone to relapse. Bivariate logistic regression analysis showed that patients with dyskinesia, abnormal brain MRI, and slow wave EEG more than 50% were risk factors for poor prognosis (OR values were 4.687, 4.978, and 24.500, respectively; P values were 0.018, 0.016, and 0.000, respectively). The time of first-line immunotherapy for the first onset<3 months was the risk factor for recurrence (OR 17.231, P=0.010). In conclusion, dyskinesia, abnormal brain MRI and slow wave of EEG more than 50% may be the risk factors for poor prognosis of patients. The duration of immunotherapy less than 3 months after the first onset might be the risk factor for recurrence.

[Association of DNA methylation of IFNG gene with no/low response to hepatitis B vaccine in children].

Objective: To explore the association of DNA methylation with immune response to hepatitis B (HepB) vaccine in Han nationality children from Guangxi province. Methods: A total of 263 children aged 8-9 months who had completed HepB immunization program were recruited from three hospitals in Guangxi province by using unmatched case-control method. Children with the HepB surface antibody concentration(Anti-HBs)<100 mIU/ml was set as the case group and ≥100 mIU/ml as the control group. Multiplex PCR and heavy sulfite sequencing were used to treat the samples. Illumina platform was used for high-throughput DNA methylation sequencing of IFNG gene target regions and CpG sites. Unconditional logistic regression was used to analyze the association between cytosine-phospho-guanosine DNA methylation at 18 loci of IFNG gene and HepB immune response level. Results: There were 104 children in the case group and 159 in the control group. The median (Q1, Q3) level of anti-HBs in two groups were 62.34 (30.06, 98.88) mIU/ml and 1 089.10 (710.35, 1 233.45) mIU/ml. The methylation levels of IFNG_1 gene 44 and 93 locus in the case group were higher than those in the control group (P<0.05). The unconditional logistic regression model showed that the DNA methylation level of IFNG_1 gene at 44 (OR=1.18, 95%CI: 1.03-1.35) and 93 (OR=1.21, 95%CI: 1.07-1.38) locus was associated with the HepB response level. Conclusion: The changes of DNA methylation at locus 44 and 93 of IFNG_1 gene may be relevant factors affecting the response level of HepB in Han nationality children from Guangxi province.

[Clinical features and prognosis analysis of myelin oligodendrocyte glycoprotein antibody-positive optic neuritis].

Objective: To investigate the clinical characteristics and prognosis of myelin oligodendrocyte glycoprotein (MOG) antibody-positive optic neuritis (ON). Methods: The data of 39 patients with MOG antibody-positive ON in the Department of Neurology of Beijing Tongren Hospital, Capital Medical University from January 1, 2017 to October 31, 2019 were retrospectively collected. There were 25 males and 14 females, aged from 15 to 80 (40±16) years. According to the recurrence, the patients were divided into two groups: the recurrence group (n=12) and the non-recurrence group (n=27). The clinical manifestations, relapse-related factors, magnetic resonance imaging (MRI) manifestations, treatment and prognosis of the two groups were analyzed. Results: A total of 63 eyes were involved, including 30 cases of optic perineuritis (OPN), accounting for 47.6% (30/63). The number of attacks ranged from 1 to 9, among which 12 patients had more than 2 attacks. There were 37 eyes [58.7% (37/63)] with severe visual loss (SVL) at the time of onset, and 7 eyes [11.1% (7/63)] with SVL at the final follow-up. Forty-eight eyes [76.2% (48/63)] had optic disc edema. Forty seven eyes [74.6% (47/63)] showed long-segment disease on optic nerve MRI. One case was complicated with aseptic meningitis and encephalitis. The recurrence group was younger than the non-recurrence group [(28.5±9.8) years vs (43.3±16.4) years, P=0.001]. There were no statistically significant differences between the two groups in gender, bilateral onset, initial visual acuity, final visual acuity, optic disc edema, head and spinal cord lesions, and immunosuppressant (all P>0.05). All patients were treated with methylprednisolone (MP) pulse therapy during the acute attack, and 16 of them were additively treated with immunosuppressive agents; the pain was alleviated or relieved significantly after the application of glucocorticoids. Conclusions: MOG antibody-positive ON often occurred in both eyes at the same time, often manifesting as OPN, often accompanied by optic disc edema, and SVL at the beginning of the disease, but most of the visual recovery was good, might be associated with meningitis and encephalitis. MRI of the optic nerve showed that the lesions often manifested as long-segment lesions. Glucocorticoids could alleviate pain and promote the recovery of visual function.

[Five cases of optic neuropathy associated with varicella zoster virus infection].

Objective: To investigate the clinical characteristics, treatment and prognosis of optic neuropathy associated with varicella zoster virus (VZV). Methods: Five cases of optic neuropathy associated with VZV infection from Department of Neurology between January 1, 2014 and March 31, 2019 were retrospectively collected. The clinical manifestations, treatment and prognosis were analyzed. Results: There were 7 eyes involved in 5 cases, 3 cases (3/5) involved only one eye, and 2 cases (2/5) involved both optic nerves. During the follow-up time, no recurrence was found. Severe visual impairment occurred in 4 eyes (4/7) and non-severe visual impairment in 3 eyes (3/7). Visual acuity improved significantly in 1 eye (1/7), turned better in 2 eyes (2/7), and remained unchanged in 4 eyes (4/7). In acute phase, abnormal signals of optic nerve and/or sheath were observed on MR images. Case 3 received antiviral and hormone therapy on the second day after the onset of the disease, and the visual acuity recovered well; the other 4 cases had poor prognosis. Conclusions: Head and face VZV infection can cause serious optic neuropathy, leading to severe visual dysfunction, and poor prognosis, but recurrence is rare. Early intravenous administration of antiviral drugs (acyclovir is the best) and hormones are recommended for VZV infection in this area. It is best to use drugs within 72 hours in order to avoid and reduce secondary optic neuropathy as far as possible.

[Success rate and influencing factors of external cephalic version for singleton pregnancies in the third trimester].

Objective: To investigate the factors associated with the success rate of external cephalic version (ECV) for singleton and non-cephalic presentation pregnancies in the third trimester. Methods: A retrospective study of ECV among singleton and non-cephalic presentation pregnant women in 36-40 weeks of gestation at Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2018 was analyzed. Results: (1) Totally, 251 cases of 358 pregnant women who underwent ECV were successful, with a total success rate of 70.1% (251/358). The success rate of multipara was 79.1% (129/163), while 62.6% (122/195) in primipara (P<0.01). The total vaginal delivery rate was 52.2% (187/358), the vaginal delivery rate of multipara was 61.3% (100/163), while 44.6% (87/195) in primipara (P<0.01). (2) Spontaneous reversion occurred in 7.6%(19/251) of ECV successful women, the rate of reversion of multipara was 10.9% (14/129), higher than that of the primipara [4.1% (5/122); P<0.01]. (3) Among the 232 pregnant women who did not reverted after successful ECV, 187 cases of successful vaginal delivery, the vaginal delivery rate was 80.6% (187/232); the vaginal delivery rate of the multipara was 87.0%(100/115), which was higher than that of the primipara [74.4%(87/117); P<0.01]. (4) The variables significantly associated with ECV success were parity, type of breech, whether fetal presentation was in pelvic or not (all P<0.05). The complication rate was 2.2% (8/358), among which the incidence of fetal distress, placental abruption and transient fetal heart abnormalities were 0.6% (2/358), 0.3% (1/358) and 1.4% (5/358) respectively. Conclusion: By close monitoring, ECV is a safe and effective procedure in selected appropriate cases, and worthy of clinical application.

[The clinical analysis of optic neuropathy relative to Behcet's disease with clinical manifestation of anterior ischemic optic neuropathy].

Objective: To summarize the clinical manifestation, treatment and prognosis of anterior ischemic optic neuropathy(AION) which was the manifestation of optic neuropathy related with Behcet's disease (BD). Methods: Retrospective series of case studies. The clinical data of 6 cases (9 eyes) of AION associated with BD who were hospitalized at the neurology ward of Beijing Tongren Hospital from February to June in 2016 were collected, the clinical characteristics of these patients were summarized, visual acuity were compared by using Wingerchuk visual grade before and after treatment. Results: Among the 6 patients with AION associated with BD, there were 4 males and 2 female, aged 38-60 years. All patients were acute onset, 3 cases had the onset of one eye, 2 cases with the onset of both eyes and 1 case with successively onset of both eyes. Optic nerve was damaged in 6 cases (9 eyes), only 1 case felt pain of eyes, the best corrected visual acuity of 4 eyes were less than 0.1, optic disk edema and linear bleeding around optic disk were oberved in all patients, the lower half visual field defect was the most common damage type (5 eyes), P100 latency of visual evoked potential prolonged in all patients, optic nerve MRI showed abnormal signal of optic nerve involvement in 2 patients. All patients were treated with corticosteroids and followed for 3 months, there was significant improvement in 1 eye of which the vision improved above 3 grade, and improvement in 6 eyes of which vision improved for 1-2 grade, while there has been no change in 2 eyes. Conclusions: BD may be the etiology of AION. Visual impairment of this kind of patients is relatively serious, visual function is expected to improve with early treatment. (Chin J Ophthalmol, 2019, 55:203-207).

[Clinical features of chronic relapsing inflammatory optic neuropathy].

Objective: To explore the clinical characteristics and prognosis of chronic relapsing inflammatory optic neuropathy (CRION). Methods: A retrospective analysis was conducted. Clinical features, disease course, prognosis and magnetic resonance imaging (MRI) of patients with CRION who were admitted to Department of Neurology between 2014 and 2016 were reviewed and analyzed. Results: Totally, there were 27 patients (10 males and 17 females), with an age range of 17-59 years. The disease duration was between 40 days and 8 years. There were 2 to 9 CRION episodes. The mean frequency of CRION episodes was 3.30±1.56. The outcome of visual acuity showed that the more episodes frequency was, the worse outcome became. There was 25 abnormal optic nerve signals in MRI. And in 22 cases, the abnormal signals were in intraorbital segment or inner pipe section. The antinuclear antibodies (ANA) titers were elevated in 5 patients. Five cases relapsed during reduction or withdrawal of steroids, but steroids was not added in time. The final outcome of these 5 patients was poor. Conclusions: CRION was more common in female than male patients. Most patients were companied by pain, and the lesions were more common in the intraorbital segment of optic nerve. The more episode frequency was, the worse prognosis became. If a relapse happened, steroids or other immunosuppressive agents should be used.

HBsAg may reappear following reactivation in individuals with spontaneous HBsAg seroclearance 8 years previously.

HBsAg reappearance may constitute not only a risk for liver disease but also an infectious source. We aimed to determine whether HBsAg may reappear after spontaneous HBsAg seroclearance. A cohort of 2999 HBsAg-positive subjects aged 30-55 years was recruited in Guangxi, China in 2004. HBsAg was tested every 6 months from July 2004 to June 2007, then, one more time in December 2013. The results showed that spontaneous HBsAg seroclearance occurred in 41 subjects in the first 3 years, giving a 0·54% annual seroclearance rate. Thirteen of the 41 subjects were randomly tested for HBsAg in 2013. Four subjects became HBsAg positive. S gene sequences of HBV were analysed from serum collected before seroclearance and after reappearance, respectively, for subject QS840 (11 and 12 clones), subject TN98 (13 and 13 clones) and subject WX227 (10 and 8 clones). Serotype, subgenotype and amino-acid substitution pattern in each sample collected after reappearance was observed in the sample collected before HBsAg seroclearance. Nucleotide similarity between the two sequences from each subject was >99% and five sequences from subject TN98 were the same. In conclusion, following reactivation, HBsAg may reappear in individuals with spontaneous HBsAg seroclearance many years previously.

Long-term effectiveness of plasma-derived hepatitis B vaccine 22-28 years after immunization in a hepatitis B virus endemic rural area: is an adult booster dose needed?

Longan County is considered a highly endemic area for hepatitis B virus (HBV). The plasma-derived vaccine has been used in newborns in this area since 1987. A cross-sectional survey was conducted to evaluate the long-term effectiveness of this vaccine. In total, 1634 participants born during 1987-1993 and who had received a series of plasma-derived HB vaccinations at ages 0, 1, and 6 months were enrolled. Serological HBV markers were detected and compared with previous survey data. Overall the prevalence of hepatitis B surface antigen (HBsAg) in all participants was 3·79%; 3·47% of subjects who had received the first dose within 24 h were HBsAg positive, and 8·41% of subjects who had received a delayed first dose were also HBsAg positive. There were 1527 subjects identified who had received the first dose within 24 h and whose HBsAg and anti-HBc prevalence increased yearly after immunization, while the anti-HBs-positive rate and vaccine effectiveness declined. The geometric mean concentration of antibody in the anti-HB-positive participants was 55·13 mIU/ml and this declined after immunization. Fewer than 2·0% of participants had anti-HB levels ⩾1000 mIU/ml. The data show that the protective efficacy of the plasma-derived vaccinations declined and administration of HB vaccine within 24 h of birth was very important. To reduce the risk of HBV infection in this highly endemic area, a booster dose might be necessary if anti-HBs levels fall below 10 mIU/ml after age 18 years. Furthermore, studies on the immune memory induced by plasma-derived HB vaccine are needed.

[Clinical features and surgical treatment effect of patients with cardiac cavernous hemangioma].

Objective: To investigate the clinical features and surgical treatment effect of patients with cardiac cavernous hemangioma. Methods: Clinical data of 9 patients (5 male, aged from 4 to 53 years old) with cardiac cavernous hemangioma, who underwent surgical treatment from November 2002 to March 2015 and the diagnosis of cardiac cavernous hemangioma was confirmed by postoperative histological examination, were retrospectively analyzed. Effects of surgical treatment were analyzed. Results: Four patients were asymptomatic (heart murmur presented in 3 patients during physical examination). Three patients presented with palpitation, chest distress, and short of breath. One patient presented with epigastric discomfort and another patient presented with intermittent fever for more than 10 months. ST and T wave changes of electrocardiogram were found in 2 patients, cardiac mass was detected in the right heart chamber in 5 patients by echocardiography, and no cardiac mass was detected the rest 4 patients. Cardiac masses were resected en bloc, then the adjacent tissues were repaired in 7 patients, and mass was partially resected due to the involvement with adjacent heart structure. No cardiac mass was found during operation in 1 case, impaired mitral valve structure was excised and postoperative pathologically confirmed as cardiac valve cavernous angioma on the excised mitral valve structure. No signs of recurrence or enlargement of cardiac cavernous hemangioma were found during the 11(10, 11)years follow up. Conclusions: There is no specific clinical feature for patients with cardiac cavernous hemangioma. It is difficult to detect the cardiac valve cavernous angioma by echocardiography before surgery. Individualized surgical treatment is associated with good clinical outcome in this patient cohort. However, the clinical features and surgical treatment effect of patients with cardiac cavernous hemangioma still need to investigate in large sample trial.

Effect of swine leukocyte antigen-DQA gene variation on diarrhea in Large White, Landrace, and Duroc piglets.

Piglet diarrhea is one of the most common factors that affects the benefits of the swine industry. Although recent studies have shown that exon 2 of SLA-DQA is associated with piglet resistance to diarrhea, contributions of genetic variation in the additional exon coding regions of this gene remain unclear. Here, we investigated variation in exons 1, 3 and 4 of the SLA-DQA gene and evaluated their effects on diarrheal infection in 425 suckling piglets. No variation was identified in exon 1. In exon 3, there were eight alleles detected, generated by 14 single nucleotide polymorphisms (SNPs) and three nucleotide deletions, eight SNPs being newly identified. Four allele sequences and three SNPs were identified in exon 4, only one SNP being newly identified. Statistical analysis showed that the genotypes of exon 3 are significantly associated with piglet diarrhea; indeed, genotypes DQA*wb01/wb02 and wb04/wb05 are clearly associated with resistance to piglet diarrhea, as they have the lowest probabilities of infection (P < 0.05). However, no significant association was found between the genotypes of exon 4 and diarrhea (P > 0.05). These results provide important new information concerning the level of genetic diversity at the SLA-DQA locus and suggest that further genetic association studies of piglet diarrhea resistance should include analyses of both exons 2 and 3 of this locus.

Genetic association of sequence variation in exon 3 of the swine leukocyte antigen-DQA gene with piglet diarrhea in Large White, Landrace, and Duroc piglets.

Piglet diarrhea is one of the primary factors that affects the benefits of the swine industry. Recent studies have shown that exon 2 of the swine leukocyte antigen-DQA gene is associated with piglet resistance to diarrhea; however, the contributions of additional exon coding regions of this gene remain unclear. Here, we detected and sequenced variants in the exon 3 region and examined their associations with diarrhea infection in 425 suckling piglets using the polymerase chain reaction-single-strand conformational polymorphism and sequencing analysis. The results revealed that exon 3 of the swine leukocyte antigen-DQA gene is highly polymorphic and pivotal to both diarrhea susceptibility and resistance in piglets. We identified 14 genotypes (AA, AB, BB, BC, CC, EE, EF, BE, BF, CF, DD, DH, GG, and GF) and eight alleles (A-H) that were generated by 14 nucleotide variants, eight of which were novel, and three nucleotide deletions. Statistical analyses revealed that the genotypes AB and EF were associated with resistance to diarrheal disease (P < 0.05), and the genotype DD may contribute to diarrhea susceptibility but was unique to Large White pigs (P > 0.05). These results elucidate the genetic and immunological background to piglet diarrhea, and provide useful information for resistance breeding programs.

[A survey of mental health status in armored vehicle crew].

OBJECTIVE: To investigate the mental health status in armored vehicle crew (commanders, gunners, and drivers) , to know the level of mental health in them, and to provide educational intervention. METHODS: In April 2009, 120 male armored vehicle crew with >2 driving years were enrolled as battle group, and 70 male persons within the same age group who were not engaged in armored vehicle operation were enrolled as control group. The Symptom Checklist-90 (SCL-90) was used to evaluate the mental status of the 180 subjects. RESULTS: Compared with the control group, the battle group showed significantly higher scores on the subscales of obsessive-compulsive symptom, interpersonal sensitivity, depression, anxiety, phobic anxiety, and paranoid ideation (t=2.323, 3.250, 3.158, 2.712, 2.391, and 2.137, all P<0.05) , as well as significantly higher total score, number of positive items, and average score of positive symptoms (t=4.128, 4.357, and 4.632, all P<0.05). In the battle group, the scores on the subscales of somatization, obsessive-compulsive symptom, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation, psychoticism, and additional items, total score, number of positive items, and average score of positive symptoms were significantly lower than the military reference values (t=4.364, 5.127, 5.280, 3.783, 7.012, 5.361, 4.369, 6.167, 6.476, 3.558, 6.357, 4.379, and 6.763, all P<0.05). CONCLUSION: A survey should be performed on the mental health status of armored vehicle crew, including obsessive-compulsive symptom, interpersonal sensitivity, depression, and anxiety. Mental health service for the crew should be enhanced to improve their psychological quality.

Association between polymorphisms of the swine MHC-DQA gene and diarrhoea in three Chinese native piglets.

Swine leucocyte antigen (SLA) is a highly polymorphic multigene family that plays a crucial role in swine immune response and disease resistance. Here, we identified polymorphisms and gene variations of SLA-DQA exon 2 using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and DNA sequencing analysis, and further investigated the correlation between the polymorphisms and piglet diarrhoea in three Chinese native pig breeds (Bamei, Juema and Gansu Black pigs). Consequently, 12 genotypes and 8 alleles including two novel alleles were detected. Nucleotide polymorphism was compared with the actual functional polymorphism in the peptide-binding region (PBR), binding pockets P1, P6 and P9, and the antigen-binding groove, variations in the antigen-binding groove of alleles DQA*01xa01, DQA*01xa03, DQA*01xb01, DQA*We02, DQA*03xb03 and DQA*wy06 were higher than alleles DQA*03xa01 and DQA*03xa03, while amino acid variations in peptide-binding pockets of allele DQA*03xa03 were most abundant among all alleles. The results of association analysis showed the diarrhoea score of Gansu Black pigs (-0.08 ± 0.78) was significantly higher than Bamei and Juema pigs (P < 0.01), and genotype DQA*03xa0103xa01 (0.39 ± 0.54) was significantly higher relative to other genotypes (P < 0.01), while that of genotype DQA*03xa0303xa03 (-1.31 ± 0.88) was markedly lower than scores obtained with genotypes DQA*03xa0103xa01 and DQA*03xa0101xa01 (P < 0.01), as well as DQA*01xa0101xa01 (P < 0.05), indicating that amino acid variations in the peptide-binding pockets play a more important role than the antigen-binding groove in piglet diarrhoea resistance. Further studies on other SLA molecules of native pigs are required to validate the link between this gene complex and diarrhoea.

Polymorphism and haplotype analyses of swine leukocyte antigen DQA exons 2, 3, 4, and their associations with piglet diarrhea in Chinese native pig.

In this study, 290 Chinese native Yantai black pig piglets were investigated to identify gene polymorphisms, for haplotype reconstruction, and to determine the association between piglet diarrhea and swine leukocyte antigen (SLA) class II DQA exons 2, 3, and 4 by polymerase chain reaction-single stranded conformational polymorphism and cloning sequencing. The results showed that the 5, 8, and 7 genotypes were identified from SLA-DQA exon 2, 3, and 4, respectively, based on the single-stranded conformational polymorphism banding patterns and found a novel allele D in exon 2 and 2 novel mutational sites of allele C (c.4828T>C) and allele F (c.4617T>C) in exon 3. Polymorphism information content testing showed that exon 2 was moderately polymorphic and that exons-3 and -4 loci were highly polymorphic. The piglet diarrhea scores for genotypes AB (1.40 ± 0.14) and AC (1.54 ± 0.17) in exon 2, AA (1.22 ± 0.32), BC (1.72 ± 0.13), DD (1.67 ± 0.35), and CF (1.22 ± 0.45) in exon 3, and AD (2.35 ± 0.25) in exon 4 were significantly higher than those for the other genotypes (P ≤ 0.05) in DQA exons. There were 14 reconstructed haplotypes in the 3 exons from 290 individuals and Hap12 may be the diarrhea-resistant gene. Haplotype distribution was extremely uneven, and the SLA-DQA gene showed genetic linkage. In this study, we identified molecular genetic markers and provided a theoretical foundation for future pig anti-disease resistance breeding.

Association between Genetic Polymorphism in the Swine Leukocyte Antigen-DRA Gene and Piglet Diarrhea in Three Chinese Pig Breeds.

The swine leukocyte antigen (SLA)-DRA locus is noteworthy among other SLA class II loci for its limited variation and has not been investigated in depth. This study was investigated to detect polymorphisms of four exons of SLA-DRA gene and its association with piglet diarrhea in Landrace, Large White and Duroc pigs. No polymorphisms were detected in exon 3, while 2 SNPs (c.178G>A and c.211T>C), 2 SNPs (c.3093A>C and c.3104C>T) and 5 SNPs (c.4167A>G, c.4184A>G, c.4194A>G, c.4246A>G and c.4293G>A) were detected in exon 1, exon 2 and exon 4 respectively, and 1 SNP (c.4081T>C) in intron 3. Statistical results showed that genotype had significant effect on piglet diarrhea, individuals with genotype BC had a higher diarrhea score when compared with the genotypes AA, AB, AC and CC. Futhermore, genotype AC had a higher diarrhea score than the genotype CC in exon 1 (p<0.05); diarrhea scores of genotype AA and BB were higher than those of genotypes AC and CC in exon 2 (p<0.05); individuals with genotype AA had a higher diarrhea score than individuals with genotype AB and BB in exon 4 (p<0.05). Fourteen common haplotypes were founded by haplotype constructing of all SNPs in the three exons, its association with piglet diarrhea appeared that Hap2, 5, 8, 10, and 14 may be the susceptible haplotypes and Hap9 may be the resistant haplotype to piglet diarrhea. The genetic variations identified of the SLA-DRA gene may potentially be functional mutations related to piglet diarrhea.

Swine Leukocyte Antigen-DQA Gene Variation and Its Association with Piglet Diarrhea in Large White, Landrace and Duroc.

The swine leukocyte antigen class II molecules are possibly associated with the induction of protective immunity. The study described here was to investigate the relationship between polymorphisms in exon 2 of the swine DQA gene and piglet diarrhea. This study was carried out on 425 suckling piglets from three purebred pig strains (Large White, Landrace and Duroc). The genetic diversity of exon 2 in swine DQA was detected by PCR-SSCP and sequencing analysis, eight unique SSCP patterns (AB, BB, BC, CC, CD, BD, BE and DD) representing five specific allele (A to E) sequences were detected. Sequence analysis revealed 21 nucleotide variable sites and resulting in 12 amino acid substitutions in the populations. A moderate level polymorphism and significant deviations from Hardy-Weinberg equilibrium of the genotypes distribution were observed in the populations (p<0.01). The association analysis indicated that there was a statistically significant difference in the score of piglet diarrhea between different genotypes, individuals with genotype CC showed a lower diarrhea score than genotypes AB (0.98±0.09), BB (0.85±0.77) and BC (1.25±0.23) (p<0.05), and significantly low than genotype BE (1.19±0.19) (p<0.01), CC genotype may be a most resistance genotype for piglet diarrhea.

IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study.

OBJECTIVE: Previous studies suggested that single-nucleotide polymorphisms (SNPs) of interferon gamma (IFNG) and its receptor IFNGR1 may be involved in the pathogenesis of tuberculosis (TB). We aimed to examine the association of IFNG gene polymorphisms with TB in the Tibetan population and use the machine learning method to establish a clinical prediction model of TB. PATIENTS AND METHODS: A total of 613 TB patients and 603 healthy controls were selected for the study. Associations between SNPs and TB were analyzed using logistic regression, adjusted for sex and age. Clinical data and SNPs were integrated to construct a TB prediction model using random forest (RF) machine learning. RESULTS: For IFNG, rs1861494 CT was a protective factor against TB compared with TT genotype (p = 0.010). The rs1861494 C allele was a protective factor for TB (p = 0.010). For IFNGR1, the rs3799488 C allele reduced the risk of TB by 30% (p < 0.001). rs9376267 CT (p = 0.005) and TT (p = 0.001) genotypes were protective factors for TB. Compared with the rs1327475 GG genotype, the frequency of the GA genotype in the case group significantly differed from the controls (p = 0.013). rs2234711 GA (p < 0.001), AA (p < 0.001) genotype and A (p < 0.001) alleles were also associated with TB. Finally, five markers are identified using the RF model. The area under the curve (AUC) reaches 0.6 in the training set and 0.59 in the test set. CONCLUSIONS: Our study found that IFNG and IFNGR1 gene polymorphisms were associated with TB in a Tibetan population. The results also demonstrate the potential of clinical-SNPs as diagnostic tools for TB.