[Analysis of genetic etiology of 234 deaths in the pediatric intensive care unit with suspected genetic diseases].

Objective: To explore the genetic etiology of pediatric intensive care unit (PICU) mortality cases and summarize their clinical characteristics. Methods: This was a retrospective cohort study. The study population consisted of 234 children who died within 7 d after admitted to the PICU of Children's Hospital of Fudan University from January 2017 to December 2021. The clinical diagnoses, laboratory test results, and genetic testing results were collected. These patients were divided into the pathogenic gene variation positive (PGVP) group and the pathogenic gene variation negative (PGVN) group according to the results of genetic testing. The Mann-Whitney U test and Pearson's chi-square test or Fisher's exact probability method were used to compare the clinical characteristics between the groups. Results: A total of 234 cases were enrolled, including 139 (59.4%) males and 95 (40.6%) females. The age at death was 1.0 (0.4, 3.7) years old and the length of PICU stay was 16 (6, 33) days. There were 62 cases (26.5%) PGVP, and the mutated pathogenic genes included immune genes (23 cases (37.1%)), metabolic genes (11 cases (17.7%)), neuromuscular genes (11 cases (17.7%)), cardiovascular genes (4 cases (6.5%)), and genes of other systems (13 cases (21.0%)). The age at death in PGVP cases was significantly lower than in PGVN cases (0.6 (0.3, 1.4) vs. 1.3(0.5, 4.3) years old, Z=3.85, P<0.001). Compared with the PGVN group, the PGVP group had a higher incidence of family history and chronic complex conditions (CCC) than the PGVN group (6.5% (4/62) vs. 0.6% (1/172) and 93.5% (58/62) vs. 76.2% (131/172), χ2=8.87, P=0.018 and 0.003, respectively). Children in the PGVP group were admitted with higher incidence of severe infection, decreased consciousness or coma, moderate-to-severe anemia, thrombocytopenia, protracted diarrhea, and abnormalities in muscle strength or tone than those in the PGVN group (74.2%(46/62) vs. 45.9%(79/172), 50.0%(31/62) vs. 35.5%(61/172), 32.3%(20/62) vs. 18.0%(31/172), 21.0%(13/62) vs. 10.5%(18/172), 25.8%(16/62) vs. 4.1%(7/172), 16.1%(10/62) vs. 5.2%(9/172), χ2=14.63, 4.04, 5.41, 4.37, 24.30, 7.25, all P<0.05). Pathogenic genes that occurred more than twice included IL2RG (5 cases), SMN1 (4 cases), and SH2D1A (3 cases, including 2 single gene varients and 1 copy number varient). Conclusions: Among the deceased cases in the PICU, the main genetic causes are immune-related, metabolic, and neuromuscular genetic disorders. Critically ill children with a family history, CCC, and early features such as severe infections, decreased consciousness or coma, moderate to severe anemia, thrombocytopenia, protracted diarrhea, or abnormalities in muscle strength or tone should be closely monitored and undergo early genetic testing.

[Exploration of the clinical transformation application of the artificial intelligence diagnosis system for bladder cancer based on cystoscopy].

This study aims to explore the possibility and bottleneck of clinical translation for an artificial intelligence (AI) diagnosis system for bladder cancer based on cystoscopy.We retrospectively collected videos of 101 bladder cancer patients from January to November 2023, at Sun Yat-sen Memorial Hospital, Sun Yat-sen University. Among these patients, with a median age of 63 years and 81.0% were male. The bladder cancer AI diagnosis system was utilized for diagnosis, and the accuracy of diagnoses from the videos was assessed. Additionally, a surgical evaluation scale was formulated to evaluate the quality of the videos, simulating clinical usage.The final test results showed a system sensitivity of 97.8%, a positive predictive value of 81.7%, specificity of 54.2%, and a negative predictive value of 92.3%. Furthermore, the surgical evaluation scale scores ranged from 3.96 to 4.69, indicating the feasibility of clinical application for this system.This study further quantitatively validated the accuracy of an artificial intelligence system using cystoscopy videos and assessed the potential for clinical application.

[Comparison between laparoscopic-assisted natural orifice specimen extraction surgery and conventional laparoscopic surgery for left colorectal cancer: 5-year follow-up results of a randomized controlled study].

Objective: To evaluate the long-term efficacy of laparoscopic-assisted natural orifice specimen extraction surgery (NOSES) colectomy using Cai tube for treating left-sided colorectal cancer. Methods: This was a randomized controlled trial. Inclusion criteria were as follows: preoperative pathological diagnosis of left-sided colorectal adenocarcinoma (rectal, sigmoid colon, descending colon, or left transverse colon cancer with the caudad margin ≥8 cm from the anal margin); preoperative abdominal and pelvic computed tomography (or magnetic resonance imaging) showing maximum tumor diameter <4.5 cm; and BMI <30 kg/m2. Patients with synchronous multiple primary cancers or recurrent cancers, a history of neoadjuvant chemoradiotherapy, preoperative evidence of significant local infiltration, distant metastasis, or complications such as intestinal obstruction and intestinal perforation, or who were not otherwise considered suitable for laparoscopic surgery were excluded. A random number table was used to randomize sequential patients to NOSES surgery using Cai tube (non-assisted incision anal sleeve: patent number ZL201410168748.2) (NOSES group) or traditional laparoscopic-assisted surgery (CLS group). Relevant clinical data of the two groups of patients were analyzed, the main outcomes being disease-free survival, overall survival, overall recurrence rate, and local recurrence rate 5 years after surgery. Results: Patients in both study groups completed the surgery successfully with no requirement for additional surgery. After mean 70 (7-83) months postoperative follow-up, the 5-year overall postoperative survival in the NOSES and CLS groups was 90.0% and 83.3%, respectively (P=0.455); disease free survival was 90.0% and 83.3%, respectively (P=0.455); overall recurrence rate 6.6% and 10.0%, respectively (P=0.625); and local recurrence rate both were 3.3% (P=0.990), respectively. None of these differences was statistically significant. Conclusions: NOSES and CLS have similar long-term efficacy, and NOSES deserves to be used in clinical practice.

[Specimen extraction through natural orifices with Cai tubes in gastrointestinal surgery: a single-institute series of 234 cases].

Objective: To investigate the feasibility of Cai tube-assisted natural orifice specimen extraction surgery (NOSES) in gastrointestinal surgery. Methods: This was a descriptive case-series study. Inclusion criteria: (1) colorectal or gastric cancer diagnosed by preoperative pathological examination or redundant sigmoid or transverse colon detected by barium enema; (2) indications for laparoscopic surgery; (3) body mass index <30 kg/m2 (transanal surgery) and 35 kg/m2 (transvaginal surgery); (4) no vaginal stenosis or adhesions in female patients undergoing transvaginal specimen extraction; and (5) patients with redundant colon aged 18-70 years and a history of intractable constipation for more than 10 years. Exclusion criteria: (1) colorectal cancer with intestinal perforation or obstruction, or gastric cancer with gastric perforation, gastric hemorrhage, or pyloric obstruction; (2) simultaneous resection of lung, bone, or liver metastases ; (3) history of major abdominal surgery or intestinal adhesions; and (4) incomplete clinical data. From January 2014 to October 2022, 209 patients with gastrointestinal tumors and 25 with redundant colons who met the above criteria were treated by NOSES utilizing a Cai tube (China invention patent number:ZL201410168748.2) in the Department of Gastrointestinal Surgery, Zhongshan Hospital, Xiamen University. The procedures included eversion and pull-out NOSES radical resection in 14 patients with middle and low rectal cancer, NOSES radical left hemicolectomy in 171 patients with left-sided colorectal cancer, NOSES radical right hemicolectomy in 12 patients with right-sided colon cancer, NOSES systematic mesogastric resection in 12 patients with gastric cancer, and NOSES subtotal colectomy in 25 patients with redundant colons. All specimens were collected by using an in-house-made anal cannula (Cai tube) with no auxiliary incisions. The primary outcomes included 1-year recurrence-free survival (RFS) and postoperative complications. Results: Among 234 patients, 116 were male and 118 were female. The mean age was (56.6±10.9) years. NOSES was successfully completed in all patients without conversion to open surgery or procedure-related death. The negative rate of circumferential resection margin was 98.8% (169/171) with both two positive cases having left-sided colorectal cancer. Postoperative complications occurred in 37 patients (15.8%), including 11 cases (4.7%) of anastomotic leakage, 3 cases(1.3%) of anastomotic bleeding, 2 cases (0.9%) of intraperitoneal bleeding, 4 cases (1.7%) of abdominal infection, and 8 cases (3.4%) of pulmonary infection. Reoperations were required in 7 patients (3.0%), all of whom consented to creation of an ileostomy after anastomotic leakage. The total readmission rate within 30 days after surgery was 0.9% (2/234). After a follow-up of (18.3±3.6) months, the 1-year RFS was 94.7%. Five of 209 patients (2.4%) with gastrointestinal tumors had local recurrence, all of which was anastomotic recurrence. Sixteen patients (7.7%) developed distant metastases, including liver metastases(n=8), lung metastases(n=6), and bone metastases (n=2). Conclusion: NOSES assisted by Cai tube is feasible and safe in radical resection of gastrointestinal tumors and subtotal colectomy for redundant colon.

[Comparison between laparoscopic-assisted natural orifice specimen extraction surgery and conventional laparoscopic surgery for left colorectal cancer: a randomized controlled study with 3-year follow-up results].

Objective: To evaluate the mid-term efficacy of laparoscopic-assisted natural orifice specimen extraction surgery (NOSES) colectomy using the Cai tube in the treatment of left colorectal cancer. Methods: A prospective randomized control trial (China Clinical Trials Registration Number: ChiCTR-OOR-15007060) was performed. Sixty patients with left colorectal cancer at Department of Gastrointestinal Surgery of Zhongshan Hospital from September 2015 to August 2017 were prospectively enrolled. Case inclusion criteria: (1) left colorectal adenocarcinoma (rectal cancer with distance ≥ 8 cm from tumor low margin to anal edge, sigmoid colon cancer, descending colon cancer and left transverse colon cancer) confirmed by preoperative pathology; (2) satisfactory conditions of conventional laparoscopic surgery; (3) maximum diameter of the tumor < 4.5 cm confirmed by preoperative abdominal and pelvic CT or MRI; (4) BMI < 30 kg/m2. Case exclusion criteria: (1) benign lesions, mucinous adenocarcinoma, signet-ring cell carcinoma and other special pathological types of tumors confirmed by preoperative pathological examination; (2) multiple or recurrent cancers; (3) with a history of neoadjuvant chemoradiotherapy; (4) obvious regional infiltration or distant metastasis indicated by preoperative imaging examination; (5) intestinal obstruction, intestinal perforation, etc. Participants were randomly assigned to NOSES group (using the Cai tube) and conventional laparoscopy (CL) group by random number table method. Clinical data between two groups were compared and analyzed, including perioperative conditions, tumor exfoliation cell detection and bacterial culture results of intraperitoneal lavage fluid, postoperative complications (Clavien-Dindo grading), postoperative pain [visual simulation scoring (VAS) assessment], anal function (Kirwan anal function grading assessment), and postoperative 3-year disease-free survival (DFS), overall survival (OS), overall recurrence rate, and local recurrence rate. Results: A total of 60 patients were enrolled, with 30 in the NOSES group and 30 in the CL group. All the patients in the NOSES group successfully completed operation with Cai tube. Baseline data between the two groups were not significantly different (all P>0.05). There were no statistically significant differences between two groups in conversion rate to open surgery, number of lymph node harivested, proximal and distal resection margin of tumor, negative rate of circumferential margin, operation time, blood loss, inflammatory indexes, postoperative anal function, postoperative hospital stay, hospitalization cost, morbidity of postoperative complications (Clavien-Dindo grade II or above) (all P>0.05). Compared to the CL group, the NOSES group had lower maximum postoperative VAS score (2.5±0.3 vs. 5.1±0.4, t=3.187, P<0.01), and fewer use of additional postoperative analgesia [6.7% (2/30) vs. 33.3% (10/30),χ2=6.670, P=0.02]. The postoperative time to gas passage was shorter in the NOSES group [(2.2±1.4) days vs. (3.1±1.2) days,P=0.026]. No tumor cells and bacterial contamination were found in abdominal lavage fluid before and after operation in either group. The anal function at postoperative 3-month of all the patients in the NOSES group was Kirwan grade I to II, while in the CL group, anal function of 2 cases (6.7%) was Kirwan grade III, and of 28 cases was also Kirwan grade I to II, whose difference was not statistically significant (P>0.05). In the NOSES group and the CL group, 3-year DFS was 96.7% and 83.3% (P=0.090), OS was 100% and 90% (P=0.096), overall recurrence rate was 3.3% and 10.0% (P=0.166), and local recurrence rate was 3.3% and 3.3% (P=0.999), respectively, whose differences were not statistically significant (all P>0.05). Conclusions: In the treatment of left colorectal cancer, compared with conventional laparoscopic colectomy, NOSES colectomy using Cai tube exhibits less scar, less postoperative pain, shorter recovery of gastrointestinal function, and similar mid-term outcomes. Given proper surgical indications, the surgical procedure is safe and feasible.

Developing a near-infrared spectroscopy and microwave-induced thermoacoustic tomography-based dual-modality imaging system.

Near-infrared spectroscopy (NIRS) techniques can provide noninvasive in vivo hemoglobin oxygenation information but suffer from relatively low resolution in biological tissue imaging. Microwave-induced thermoacoustic tomography (TAT) can produce high-resolution images of the biological tissue anatomy but offer limited physiological information of samples because of the single species of the chromophore it maps. To overcome these drawbacks and take advantage of the merits of the two independent techniques, we built a dual-modality system by combining a NIRS system and a TAT system to image biological tissues. A series of phantom trials were carried out to demonstrate the performance of the new system. The spatial resolution is about 1 mm, with a penetration depth of at least 17.5 mm in the human subject. A cohort of five healthy subjects was recruited to conduct real-time forearm venous and arterial cuff occlusion experiments. Numerous results showed that this dual-modality system could measure oxygen metabolism and simultaneously provide anatomical structure changes of biological tissues. We also found that although the hemoglobin concentration varied consistently with many other published papers, the TAT signal intensity of veins showed an opposite variation tendency in the venous occlusion stage compared with other existing work. A detailed explanation is given to account for the discrepancy, thus, providing another possibility for the forearm experiments using TAT. Furthermore, based on the multiple types of information afforded by this dual-modality system, a pilot clinical application for the diagnosis of anemia is discussed.

Leg-Length Change After Unilateral Unicompartmental Knee Arthroplasty in Varus Knee and Its Clinical Implications.

BACKGROUND: To explore the magnitude of leg-length change after the unilateral index unicompartmental knee arthroplasty (UKA) in varus knee and its influence on clinical outcomes. METHODS: A total of 114 patients with bilateral knee osteoarthritis who underwent unilateral UKA from June 2015 to June 2017 were included and followed up for at least 2 years. The leg length and hip-knee angle were measured on full-length standing films before and after the surgery. Flexion contracture was evaluated using a goniometer with the patient in the standing position preoperatively and postoperatively. Hospital for Special Surgery scores, perceived leg-length discrepancy (pLLD), the occurrence, and the time interval of subsequent contralateral knee arthroplasty were recorded and analyzed. RESULTS: The average leg length increased after UKA was 9.39 ± 11.24 mm (range -21.00 to 33.79 mm), and 90 (78.9%) patients showed an increase in the leg length. 35 patients had LLD (defined as ≥10 mm), and 25 presented pLLD preoperatively; 25 patients had LLD, and 45 were suspected with pLLD postoperatively. At the last follow-up, 26 patients underwent subsequent contralateral knee arthroplasty. Postoperative LLD and pLLD were not associated with Hospital for Special Surgery scores of UKA but associated with subsequent contralateral knee arthroplasty. CONCLUSIONS: LLD and pLLD were common in patients both before and after UKA. Most patients showed leg lengthening after UKA. Postoperative LLD and pLLD were not associated with functional scores but associated with a subsequent contralateral knee arthroplasty.

[Decolorization of skin and hair-derived melanin by three ligninolytic enzymes].

Objective: To compare the decolorization efficiency of lignin peroxidase (LiP), manganese peroxidase (MnP) and laccase on eumelanin and pheomelanin, and to investigate the effect of topical administration of LiP solution on hyperpigmented guinea pigs skin induced by 308 nm excimer light. Methods: Pheomelanin-enriched specimens were prepared from human hair and cutaneous melanoma tissue using alkaline lysis method.Synthetic eumelanin was purchased from a commercial supplier.The same amount (0.02%) of melanin was incubated with the equal enzyme activity (0.2 U/ml) of ligninolytic enzymes for 3 h respectively.The absorbance at 475 nm (A(475)) in the enzyme-catalyzed solution was measured using ELISA microplate reader.The experimental hyperpigmentation model was established in the dorsal skin of brownish guinea pigs using 308 nm excimer light radiation.LiP and heat-inactivated LiP solution were topically applied at each site.Meanwhile, 3% hydroquinone and vehicle cream were used as control.The skin color (L value) was recorded using a CR-10 Minolta chromameter.Corneocytes were collected using adhesive taping method.The amount and distribution of melanin in the corneocytes and skin tissues was visualized by Fontana-Masson staining. Results: All three ligninolytic enzymes showed various degree of eumelanin and pheomelanin decolorization activity.The decolorization activity of LiP, MnP and laccase was 40%-70%, 22%-42% and 9%-21%, respectively.The similar lightening was shown in the skin treated with LiP solution and 3% hydroquinone.The amount of melanin granules in the corneocytes was 199±11 by LiP, which was less than that in untreated control (923±12) and heat-inactive control (989±13). The amount of melanin was decreased in the whole epidermis treated with hydroquinone, the epidermis thickness was increased as well. In contrast, melanin of LiP group was decreased only in the superficial epidermis, the epidermis thickness seemed to be normal. Conclusion: LiP exerts a potent decolorization activity for hair- or skin-derived pheomelanin as well as eumelanin.It remains to be further investigated whether LiP serves as a substitute for hydroquinone in skin lightening products.

[Propensity score matching-based analysis of short-term outcomes of Laparoscopic-assisted Natural Orifice Specimen Extraction for left colorectal cancer radical resection].

OBJECTIVE: To explore short-term outcomes obtained with Laparoscopic-assisted Natural Orifice Specimen Extraction for left colorectal cancer radical resection. METHODS: A total of 123 patients with left colorectal tumor who had undergone laparoscopic surgery between Jan.2014 and Jun.2015 were reviewed. According to surgical approach, transanal specimen extraction using the Cai Tube (study group, n=29) and trans-abdominal incision specimen extraction (control group, n=123) were studied. Propensity score matching was applied at a ratio of 1∶1 comparing the study (n=23) and control (n=23) groups. RESULTS: The two matched groups had similar baseline characteristics. There was no significant difference in the length of distal or proximal resection margin, the rate of circumferential resection negative margin, the estimated blood loss, the levels of C-reactive protein on 2nd day after surgery, the postoperative time to take liquid, the postoperative hospital day, the hospital fee and the postoperative anal function. The study group presented longer operative time[(237.8±68.1)min vs (168.9±47.5)min, P<0.05], less number of lymph nodes dissected (12.4±5.4 vs 16.4±7.2, P<0.05), higher white cell count on 2nd day after surgery[(11.7±3.4)×10(9)/L vs (9.4±2.6)×10(9)/L, P<0.05], but quicker postoperative recovery of bowel function[(2.6±0.7)d vs (3.4±0.7)d, P<0.05], shorter postoperative ambulation time[(2.3±0.6)d vs (3.6±0.7)d, P<0.05], lower rate of postoperative complications (0/23 vs 6/23, P<0.05) and lower rate of utilization of painkillers in addition to postoperative analgesia pump (1/20 vs 9/23, P<0.05). CONCLUSION: Laparoscopic-assisted left colorectal cancer radical resection using the Cai Tube is in line with oncologic principle, less pain, quicker recovery and better cosmetic results.

Transcriptome analysis and anthocyanin-related genes in red leaf lettuce.

This study aimed to analyze the transcriptome profile of red lettuce and identify the genes involved in anthocyanin accumulation. Red leaf lettuce is a popular vegetable and popular due to its high anthocyanin content. However, there is limited information available about the genes involved in anthocyanin biosynthesis in this species. In this study, transcriptomes of 15-day-old seedlings and 40-day-old red lettuce leaves were analyzed using an Illuminia HiseqTM 2500 platform. A total of 10.6 GB clean data were obtained and de novo assembled into 83,333 unigenes with an N50 of 1067. After annotation against public databases, 51,850 unigene sequences were identified, among which 46,087 were annotated in the NCBI non-redundant protein database, and 41,752 were annotated in the Swiss-Prot database. A total of 9125 unigenes were mapped into 163 pathways using the Kyoto Encyclopedia of Genes and Genomes database. Thirty-four structural genes were found to cover the main steps of the anthocyanin pathway, including chalcone synthase, chalcone isomerase, flavanone 3-hydroxylase, flavonoid 3'-hydroxylase, flavonoid 3',5'-hydroxylase, dihydroflavonol 4-reductase, and anthocyanidin synthase. Seven MYB, three bHLH, and two WD40 genes, considered anthocyanin regulatory genes, were also identified. In addition, 3607 simple sequence repeat (SSR) markers were identified from 2916 unigenes. This research uncovered the transcriptomic characteristics of red leaf lettuce seedlings and mature plants. The identified candidate genes related to anthocyanin biosynthesis and the detected SSRs provide useful tools for future molecular breeding studies.

Lutein alleviates arsenic-induced reproductive toxicity in male mice via Nrf2 signaling.

This study aims to investigate the mechanisms involved in the action of lutein (LU) alleviating arsenic-induced reproductive toxicity using mice model. Forty male Kunming mice were received following treatments by gavage: normal saline solution (control), arsenic trioxide (ATO; 5 mg/kg/day), LU (40 mg/kg/day), and ATO + LU (5 mg/kg/day + 40 mg/kg/day). At the end, the mice were killed by cervical dislocation and weighed. Pathological examination was done on the testis. The biomedical parameters including superoxide dismutase (SOD), glutathione (GSH), total antioxidative capability, malondialdehyde (MDA), 8-hydroxydeoxyguanosine (8-OHdG), and reproductive indexes were analyzed. The messenger RNA (mRNA) and protein expression of Nrf2, heme oxygenase 1 (HO-1), glutathione S-transferase (GST), nicotinamide adenine dinucleotide phosphate dehydrogenase, quinone 1 (NQO1) in testis were detected by real-time polymerase chain reaction and Western blot. We found that there was a decrease in sperm count; testis somatic index; the activities of SOD, GSH, total antioxidative capacity (p < 0.01, respectively) in ATO-treated mice, while there was an increase in the levels of sperm abnormalities, MDA, and 8-OHdG than control (p < 0.01, respectively). The groups treated with ATO + LU showed recovery of the measured parameters between those of ATO or saline-treated group. The antagonized interaction between ATO and LU was statistically significant (p < 0.01). Mice treated with ATO + LU also showed greater mRNA expression of Nrf2, HO-1, NQO1, and GST than ATO or saline-treated groups. These findings suggest that LU alleviates reproductive toxicity induced by arsenic in male mice via Nrf2 signaling, which implicates a possible mechanism of LU in preventing the reproductive injury, and elucidates that consuming the rich plant sources of LU will alleviate the reproductive toxicity induced by chemicals.

Investigation of TG gene variants and their effects on growth, carcass composition, and meat quality traits in Chinese steers.

Thyroid hormones play an important role in regulating metabolism and can affect metabolism-related traits such as fat deposition. The thyroglobulin (TG) gene produces the precursor of thyroid hormones and has been proposed as a candidate gene for a quantitative trait locus with an effect on fat deposition. In this study, we identified 4 novel single nucleotide polymorphisms (SNPs) in the 5' flanking region of the TG gene using a DNA sequencing method. The SNP marker association analysis indicated that the T1355C SNPs were significantly associated with meat percentage (P < 0.05). A significant association between the G1356A polymorphism and live weight and loin muscle area was also detected (P < 0.05). However, no significant association was found between 4 SNPs and the other growth, carcass composition, and meat quality traits including intramuscular fat. The results of this study suggest that TG gene-specific SNPs may be a useful marker for growth traits in marker-assisted selection programs in beef cattle.

Polymorphisms in the PPARγ gene and their association with metabolic syndrome in Uyghurs and Kazakhs from Xinjiang, China.

We investigated the association between polymorphisms rs1801282 and rs3856806 of the PPARγ gene and metabolic syndrome (MS) among Uyghurs and Kazakhs. Mass spectrometry techniques were used to detect the PPARγ genotypes rs1801282 and rs3856806 in 987 subjects, CC genotype and C allele frequencies were 83.6 and 91.7%, respectively, at rs1801282 in Kazakhs, which were higher than those in Uyghurs (72.3 and 85.0%, respectively; P < 0.05). CC genotype and C allele frequencies were 73.6 and 85.3%, respectively, at the rs3856806 loci in Kazakhs, which were higher than those in Uyghurs (60.7 and 77.9%, respectively; P < 0.05). For the rs3856806 polymorphism in Kazakhs, CT/TT genotype and T allele frequencies were 21.2 and 12.4% for MS subjects, which were lower than those for the control group (31.6 and 17.0%, respectively; P < 0.05). Risk analysis of Kazakhs revealed that individuals with the CT and TT genotypes at rs3856806 had an increased risk, 0.524- and 0.770-fold, respectively, of developing MS than those possessing the CC genotype. Individuals with the T allele also had an increase in risk, by 0.699-fold, of developing MS than those with the C allele. For Uyghurs, those with the CC genotype at rs1801282 had higher systolic blood pressure than those with the CG/GG genotype. Among Kazakhs, those with the CC genotype at rs3856806 had higher triglyceride and waist-hip ratio levels but lower high-density lipoprotein cholesterol levels than those with the CT/TT genotype. The rs1801282 and rs3856806 PPARγ polymorphisms differ between Uyghurs and Kazakhs from Xinjiang Province, China.

Dietary sodium selenite affects host intestinal and systemic immune response and disease susceptibility to necrotic enteritis in commercial broilers.

1. This study was to evaluate the effects of supplementary dietary selenium (Se) given as sodium selenite on host immune response against necrotic enteritis (NE) in commercial broiler chickens. 2. Chicks were fed from hatching on a non-supplemented diet or diets supplemented with different levels of Se (0.25, 0.50, and 1.00 Se mg/kg). To induce NE, broiler chickens were orally infected with Eimeria maxima at 14 d of age and then with Clostridium perfringens 4 d later using our previously established NE disease model. 3. NE-associated clinical signs and host protective immunity were determined by body weight changes, intestinal lesion scores, and serum antibodies against α-toxin and necrotic enteritis B (NetB) toxin. The effects of dietary Se on the gene expression of pro-inflammatory cytokines e.g., interleukin (IL)-1ß, IL-6, IL-8LITAF (lipopolysaccharide-induced TNFα-factor), tumour necrosis factor (TNF) SF15, and inducible nitric oxide synthase (iNOS), glutathione peroxidase 7 (GPx7), and avian ß-defensins (AvBD) 6, 8, and 13 (following NE infection) were analysed in the intestine and spleen. 4. The results showed that dietary supplementation of newly hatched broiler chicks with 0.25 Se mg/kg from hatch significantly reduced NE-induced gut lesions compared with infected birds given a non-supplemented diet. The levels of serum antibody against the NetB toxin in the chicks fed with 0.25 and 0.50 mg/kg Se were significantly higher than the non-supplemented control group. The transcripts for IL-1ß, IL-6, IL-8, iNOS, LITAF, and GPx7, as well as AvBD6, 8, and 13 were increased in the intestine and spleen of Se-supplemented groups, whereas transcript for TNFSF15 was decreased in the intestine. 5. It was concluded that dietary supplementation with optimum levels of Se exerted beneficial effects on host immune response to NE and reduced negative consequence of NE-induced immunopathology.

Successful Treatment of Cryptococcal Meningitis with Amphotericin B in a Patient with Systemic Lupus Erythematosus.

Patients with systemic lupus erythematosus (SLE) have an increased susceptibility to bacterial, viral, fungal and parasitic infections. Cryptococcal infection of the central nervous system (CNS) is a rare but often fatal complication of SLE. Here, we describe a case of cryptococcal meningitis in a female patient with active SLE, who was successfully treated with amphotericin B. This case suggests that the clinical findings of SLE patients with cryptococcal meningitis are non-specific and misleading, and early use of amphotericin B has a good response.

Lycopene protects bone marrow mesenchymal stem cells against ischemia-induced apoptosis in vitro.

OBJECTIVE: Bone marrow mesenchymal stem cells (MSCs) have been identified to have the potential to differentiate into multiple types of cells. And the therapy based on transplantation of MSCs in some solid organs has been suggested in recent years. However, the rejection reaction often occurs in the transplantation of MSCs and could induce cell death. Ischemia has been reported to one of the main causes of MSCs death during transplantation. The primary objective of this study was to verify whether a natural antioxidant, lycopene, could protect MSCs from ischemia-induced apoptosis in vitro. MATERIALS AND METHODS: MSCs were isolated from bone marrow in mice femoral bone marrow. The effect of lycopene on MSCs during oxygen-glucose-serum deprivation was investigated. RESULTS: We found that lycopene protected MSCs from serum deprivation- and hypoxia-induced apoptosis. The reactive oxygen species (ROS) generation and inducible nitric oxide synthetase expression were also inhibited dose-dependently by lycopene. Further investigation revealed that lycopene could activate phosphoinositide-3 kinase (PI3K)/Akt. Pretreatment with PI3K/Akt inhibitors prevented the protective effect of lycopene on MSCs. CONCLUSIONS: Lycopene could protect MSCs from ischemia-induced apoptosis through reducing ROS generation; therefore, lycopene could be useful in MSC transplantation.

Epidemiological analysis of dyslipidemia in adults of three ethnicities in Xinjiang, China.

This study investigated the prevalence and distribution of dyslipidemia in adults of Uygur, Kazak, and Han ethnicity in Xinjiang, China. A questionnaire including general data, physical examination (blood pressure, body height, and body weight) and blood lipid [total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C)] was administered to 11,506 adults in Xinjiang, China from 2009 to 2010 using a stratified sampling method. The overall prevalence rates of dyslipidemia in Uygur, Kazak, and Han adults were 42.4, 31.6, and 30.2%, respectively; they were 42.4, 31.8, and 28.2% after age standardization (P < 0.01). After standardization, the overall prevalence rates in Uygur, Kazak, and Han men were 52.6, 35.4, and 33.2%, respectively, which were significantly higher than that in women of the corresponding ethnicities (P < 0.01). In Uygur, Kazak, and Han adults, there were significant differences with respect to the standardized prevalence rates of high TG (9.3, 9.3, and 17.3%), high TC (5.2, 6.9, and 6%), low HDL-C (33.6, 20.8, and 11.1%), and high LDL-C (2.4, 2.9, and 2%) (P < 0.05). The prevalence rates of dyslipidemia in Uygur, Kazak, and Han adults in Xinjiang are higher than the average levels in China, with significant differences in ethnicity, age, and gender. Han adults exhibited the highest prevalence rate of high TG. Meanwhile, Uygur adults had the highest prevalence rate of low HDL-C. Kazak adults had high prevalence rates of high TC, low HDL-C, and high LDL-C.

Effects of in ovo injection with selenium on immune and antioxidant responses during experimental necrotic enteritis in broiler chickens.

This study was conducted to investigate the effects of in ovo injection of Se on modulating the immune system and antioxidant responses in broiler chickens with experimental necrotic enteritis. Broiler eggs were injected at 18 d of embryo age with either 100 µL of PBS alone or sodium selenite (Na2SeO3) in PBS, providing 0 (SS0), 10 (SS10), or 20 (SS20) µg of Se/egg. At 14 d posthatch, PBS-treated and uninfected chickens were kept as the control group, whereas the remaining chickens were orally infected with 1.0 × 10(4) sporulated oocysts of Eimeria maxima (SS0, SS10, SS20). At 18 d posthatch, E. maxima-infected chickens were orally infected with 1.0 × 10(9) cfu of Clostridium perfringens. Infected control SS0 group showed significantly decreased BW compared with the uninfected control. However, SS20 group showed significantly increased BW compared with the infected control SS0 group, whereas the BW were similar among uninfected control and infected SS10 and SS20 groups. The SS10 group showed significantly lower intestinal lesions compared with the SS0 group, and oocyst production was decreased in both SS10 and SS20 groups. Serum malondialdehyde level and catalase activity were also decreased in both SS10 and SS20 groups, whereas the superoxide dismutase level was significantly lower in the SS10 group compared with the SS0 group. The SS20 group showed significantly higher levels of transcripts for IL-1ß and IL-6 in intestine, and SS10 and SS20 groups had higher levels of transcripts for IL-8 and inducible nitric oxide synthase expression and decreased glutathione peroxidase 7 mRNA levels compared with the SS0 group. The SS10 and SS20 groups also showed increased serum antibody levels to C. perfringens α-toxin and NetB toxin compared with the SS0 group. These collective results suggest that the injection of Se into the amniotic cavity of developing eggs may be beneficial for enhancing immune and antioxidant responses in the hatched chickens exposed to the necrotic enteritis-causing pathogens.

Polymorphism of SREBP1 is associated with beef fatty acid composition in Simmental bulls.

The sterol regulatory element binding factor 1 gene (SREBP1) plays an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. The objective of this study was to investigate the effect of genetic polymorphisms of SREBP1 on the fatty acid composition of muscle and carcass traits in Simmental bulls and Snow Dragon black cattle. The 84-bp insertion/deletion (indel) in intron 5 of the bovine SREBP1 gene was genotyped by polymerase chain reaction to investigate its associations with traits. The results showed that the 84-bp indel in intron 5 was significantly associated with palmitoleic acid (C16:1), stearic acid (C18:0), saturated fatty acids (SFA), triglycerides (TAG), and the C16 index in Simmental bulls (P < 0.05). Cattle with the LL genotype had higher palmitic acid (C16:1), triglycerides, and C16 index but lower stearic acid (C18:0) and SFA compared to those with the LS genotype (P < 0.05). In conclusion, the 84-bp indel of SREBP1 could be used as a genetic marker for selecting Simmental breeding stock for healthier fatty acid composition.