Genome-wide association studies uncover genes associated with litter traits in the pig.

Litter traits are critical economic variables in the pig industry as they represent a production indicator that can serve to determine sow fertility. In this study, a genome-wide association study on litter traits, including total number born (TNB), number born alive (NBA), litter birth weight (LBW), average birth weight (ABW), and piglet uniformity (PU), was carried out on two pig breeds (Yorkshire and Landrace). A total of 3 637 pigs of both breeds were genotyped using the GeneSeek GGP Porcine 50K SNP BeadChip. A mixed linear model (MLM) and fixed and random model circulating probability unification (FarmCPU) were employed in the genome-wide association studies for litter traits using combined data from the two pig breeds and data from each breed separately. Additionally, the heritability of traits was estimated using three methods-pedigree-based best linear unbiased prediction (PBLUP), genomic best linear unbiased prediction (GBLUP), and single-step best linear unbiased prediction (ssGBLUP)-and was found to lie between 0.065 and 0.1289, 0.0478 and 0.0938, 0.0793 and 0.0935, 0.1862 and 0.2163, and 0.0327 and 0.0419 for TNB, NBA, LBW, ABW, and PU, respectively. We also compared the genomic prediction accuracies and unbiasedness for litter traits of the three BLUP models. Our results indicated that the ssGBLUP method provided higher predictive accuracies and more rational unbiasedness compared with the PBLUP and GBLUP methodologies. Furthermore, based on their possible roles, eight candidate genes (INHBA, LEPR, HDHD2, CTNND2, RNF216, HMX1, PAPPA2, and NTN1) were identified as being linked with litter traits. In the middle of the test, these genes were found to be connected with pig metabolism and ovulation rate. Our results provide the insights into the genetic architecture of litter traits in pigs, and the potential single nucleotide polymorphisms (SNPs) and candidate genes identified may benefit economic profits in pig-breeding industry and contribute to improve litter traits.

[Clinical application of single-port inflatable endoscopic nipple sparing mastectomy with immediate reconstruction using prosthesis implantation].

Objective: To examine the clinical application value of single-port inflatable endoscopic nipple sparing mastectomy with immediate reconstruction using prosthesis implantation in the treatment of early breast cancer. Methods: From February 2014 to July 2019, the clinic-pathological data of 34 early breast cancer patients received single-port inflatable endoscopic nipple sparing mastectomy with immediate reconstruction using prosthesis implantation at Department of General Surgery, Beijing Friendship Hospital, Capital Medical University were retrospectively analyzed and followed up. All the patients were female, with an age of 46(11) years (M(QR)) (range: 26 to 64 years). The radical cure degree of operation, cosmetic effect after operation were evaluated. The satisfaction to operation and personal quality of life after operation was accessed by BREAST-Q scale. Results: All surgical procedures were successfully completed. The operation time was (313.4±11.7) minutes (range: 200 to 485 minutes). The blooding-liquid was (33.8±3.3) ml (range: 10 to 100 ml). There were 5 cases (14.7%) of nipple areola necrosis after operation, of which 1 patient received taking the prosthesis out because of prosthesis exposure. There was no capsular contracture or postoperative bleeding case. The follow-up time was 35(17) months (range: 12 to 77 months), and there was one case suffering local recurrence and metastasis, and another suffering metastasis. The scores of postoperative breast satisfaction, psychosocial status, chest wall status and sexual health were 78.32±2.57 (range: 55 to 100), 89.12±2.30 (range: 82 to 100), 91.47±1.33 (range: 43 to 100), and 78.50±2.68 (range: 39 to 100). Conclusion: Single-port inflatable endoscopic nipple sparing mastectomy with immediate reconstruction using prosthesis implantation in the treatment of early breast cancer can achieve provided curative and cosmetic effect on patients with breast cancer, with good patients' postoperative quality of life and satisfaction.

[Epidemiological analysis of cytogenetic abnormalities in patients with newly-diagnosed multiple myeloma: a multi-center retrospective study].

Objective: To analyze the frequency and composition of risk-related cytogenetic abnormalities (CAs) in patients with newly-diagnosed multiple myeloma (NDMM) . Methods: The frequency and composition of risk-related CAs from a cohort of 1 015 Chinese patients with NDMM were determined by interphase fluorescence in situ hybridization (iFISH) , individually or in combination. Results: Of the cohort of 1 015 Chinese patients with NDMM, the frequencies of IgH arrangement, del (13q) /13q14, 1q gain and del (17p) were 54.0%, 46.4%, 46.1% (35.8% and 12. 7% for 3 or more than 3 copies) and 9.9%, respectively. Among 454 patients who had the baseline information for all risk-related CAs [except t (14;20) , which was not covered by the FISH panels performed routinely at all five centers], the frequencies of t (4;14) , t (11;14) or t (14;20) were 14.1%, 11.2% and 4.8%, respectively; of them, 44.3% patients carried 2 or more CAs (28.0%, 13.4% and 2.9% for 2, 3 or ≥4 CAs) ; 83.3%, 95.0% or 68.6% patients with 1q gain, del (17p) or IgH rearrangement had 1 or more additional CA (s) , with del (13q) /13q14 as the most frequently accompanied CA; 57.7% patients carried at least 1 HRCA; the incidences of double-hit (DH) MM (DHMM) (=2 HRCAs) and triple-hit (TH) (THMM) (≥3 HRCAs) were 14.3% and 2.9%, respectively. Conclusions: Our results provided an up-to-date profile of CAs in Chinese NDMM patients, which revealed that approximately 58% patients might carry at least 1 HRCA, and 17% could experience so-called DHMM or THMM who presumably had the worst outcome.

[Clinical analysis of the character and prognostic factors of 23 cases of mantle cell lymphoma].

OBJECTIVE: To investigate the clinical characteristics and prognostic factors of mantle cell lymphoma (MCL) patients. METHODS: The clinical data of 23 MCL patients were retrospectively analyzed. Immunohistochemical stain was performed to detect the protein expressions of Mcl-1, pNF-κB p65 and 14-3-3ζ of MCL patients to analyze its prognostic factors. RESULTS: Among 23 MCL patients, there were 17(73.9%) patients with IPI 0-2 (low risk group) and 6(26.1%) patients with IPI 3-4. Only the rate of 2y-progression-free survival (PFS) of group IPI 0-2 was superior to that of group IPI 3-4 patients (47.1% vs 0, P=0.049); There were 16 (69.5%) patients with MIPI < 5.7, whose rates of overall response rate (ORR), 2y overall survival (OS) and PFS were better than those of the ones with MIPI ≥ 5.7(ORR: 81.3% vs 33.3% P=0.032; OS: 68.8% vs 16.7% P=0.041; PFS: 50% vs 0, P=0.040 respectively). The rates of ORR, 2y-OS and 2y-PFS (100.0%, 80.0% and 70.0%) of patienets received regimen R+CHOP(E) were all superior to those (38.5%, 30.8% and 7.7%) of ones received regimen CHOP(E) (P=0.002, P= 0.024, P=0.003, respectively). Among 12 patients, 2 out of 6 cases with Mcl-1 positive expression achieved good response (CR+PR) and 2y-OS, 1 case 2y-PFS; All 6 cases with Mcl-1 negative expression achieved good response (CR+PR) and 2y-OS, 5 cases 2y-PFS. 3 out of 6 cases with pNF-κB p65 positive expression achieved good response (CR+PR) and 2y-OS, 1 case 2y-PFS; 5 out of 6 cases with pNF-κB p65 negative expression achieved good response (CR+ PR) and 2y-OS/PFS. 5 out of 8 cases with 14-3-3ζ positive expression achieved good response (CR+PR), 4 cases 2y-OS, and 3 cases 2y-PFS. 3 out of 4 cases with 14-3-3ζ negative expression achieved CR, 4 cases 2y-OS, and 3 cases 2y-PFS. CONCLUSION: MCL patients had high heterogeneity. MIPI has better prognostic significance than IPI. R+CHOP(E) as first line treatment improved the rates of OS/PFS. The expressions of Mcl-1, pNF-κB p65 and 14-3-3ζ proteins in MCL might be related to prognosis.

Adiponectin inhibits hyperlipidemia-induced platelet aggregation via attenuating oxidative/nitrative stress.

Adiponectin acts as an endogenous antithrombotic factor. However, the mechanisms underlying the inhibition of platelet aggregation by adiponectin still remain elusive. The present study was designed to test whether adiponectin inhibits platelet aggregation by attenuation of oxidative/nitrative stress. Adult rats were fed a regular or high-fat diet for 14 weeks. The platelet was immediately separated and stimulated with recombinant full-length adiponectin (rAPN) or not. The platelet aggregation, nitric oxide (NO) and superoxide production, endothelial nitric oxide synthase (eNOS)/inducible NOS (iNOS) expression, and antioxidant capacity were determined. Treatment with rAPN inhibited hyperlipidemia-induced platelet aggregation (P<0.05). Interestingly, total NO, a crucial molecule depressing platelet aggregation and thrombus formation?was significantly reduced, rather than increased in rAPN-treated platelets. Treatment with rAPN markedly decreased superoxide production (-62 %, P<0.05) and enhanced antioxidant capacity (+38 %, P<0.05) in hyperlipidemic platelets. Hyperlipidemia-induced reduced eNOS phosphorylation and increased iNOS expression were significantly reversed following rAPN treatment (P<0.05, P<0.01, respectively). Taken together, these data suggest that adiponectin is an adipokine that suppresses platelet aggregation by enhancing eNOS activation and attenuating oxidative/nitrative stress including blocking iNOS expression and superoxide production.

Sleeve fracture of the patella in children.

PURPOSE: To report the diagnosis, treatment, and outcomes of sleeve patellar fractures in children. METHODS: Records of a consecutive series of patients with sleeve patellar fractures were retrospectively reviewed. RESULTS: Of the 11 children (8 boys and 3 girls; mean age, 12 years), 6 had minimally displaced fractures (1-2 mm) and were managed by cylindrical plaster of Paris immobilisation, whereas the other 5 with severely displaced fractures underwent open reduction with tension band wiring. The mean follow-up period was 10 (range, 3-36) months. All patients obtained full extension of the knee except one (with an extension lag of 10 degrees). No patient complained of pain or discomfort of the involved knee. CONCLUSION: Sleeve patellar fractures in children are uncommon. Diagnosis can be missed, especially in those with a very small avulsed bony fragment. For undisplaced fracture, conservative management can achieve good results. For severely displaced fractures, early surgical intervention is effective.

Traction and spica casting for closed femoral shaft fractures in children.

PURPOSE: To evaluate the treatment outcome of skin traction followed by spica casting for closed femoral shaft fractures in children. METHODS: Between September 1997 and December 2001 inclusive, outcomes of 63 children aged one month to 15 (mean, 5.3) years with closed femoral shaft fractures managed with skin traction and spica casting were reviewed. Depending on age, patients were kept in traction from 2 to 15 (median, 9) days, then in spica casts for 2 to 8 (median, 5) weeks. RESULTS: Bony union took 3 to 12 (median, 6) weeks. There were no malunion, nonunion, or rotational deformities. Nor were there any significant limb length discrepancies, pressure sores, or nerve palsies. On no occasion was a spica cast removed and reapplied for loss of fracture reduction. At final follow-up, limb length discrepancy was noted in 14 (22%) of the patients, but none had a discrepancy of greater than 1.5 cm or a short-legged gait. CONCLUSION: Skin traction followed by spica casting for closed femoral shaft fractures in children is safe, cost-effective and associated with a low complication rate. It is effective in children below 5 years of age and no less effective in older children, except in instances of open fracture, multiple fractures, or older children with large statures, which conditions render them intolerant to spica casts.

Management of partial growth arrest: physis, fat, or silastic?

A rabbit model was developed for the study of partial growth arrest and its correction by epiphysiolysis and transfer of physis, free fat, or silastic. Growth arrest involved half of the proximal tibial physis. Clinical, radiologic, and histologic studies showed that a physeal graft (from iliac apophysis) was superior to silastic in terms of correction of angular deformity as well as contribution to longitudinal growth of the tibia after resection of a large peripherally situated bone bridge. Interposition of fat yielded the poorest results.

Surgical management of congenital and habitual dislocation of the patella.

Twelve patients with congenital dislocation of the patella (CDP) and 23 patients with habitual dislocation of the patella (HDP) were followed for 2-15 years after surgical stabilization of the patella. The underlying pathology in both conditions was contracture of the quadriceps mechanism, which was more severe in CDP. Surgical stabilization in most cases included an extensive lateral release, medial plication, and transfer of the lateral half of the patella tendon. Lengthening of the rectus femoris tendon was required in many cases. With appropriate operative procedures, satisfactory results were achieved in 36 of the 41 knees (87.8%).

Experimental scoliosis in the rat. II. Biomechanical analysis of the forces during Harrington distraction.

The purpose of this study was to characterize the forces resulting from Harrington distraction of the spine in an experimental model of scoliosis in the rat, in order to establish both the similarity of this model to human scoliosis and identify potential force parameters that may be useful for clinical decision-making. Harrington distraction was performed in 36 rats that had been made scoliotic 9-12 weeks earlier by the method described in the previous paper. Distractions were carried out in discrete and timed steps until separation of the vertebral laminae (mechanical failure) occurred at the upper hook site. Distractive forces were monitored continuously by a strain gauge mounted on the tension side of the upper arm of the outrigger. The resulting data were compared among the various curvature groups. The relationship between the length of distraction and the maximum force produced was similar for all animals regardless of curvature. This relationship was quadratic and was characterized by an inflection point where forces increased rapidly with each distraction. The amount of distraction necessary to reach both the inflection and failure points differed only for curves above 100 degrees. The amount of force required to reach failure was lower for curves above 75 degrees. Curves above 50 degrees had a lower percent correction at the inflection point. Bending and tensile forces were calculated by vector analysis. Axial load efficiencies were greater for curves above 50 degrees, as evidenced by increased bending forces in these animals. The viscoelasticity of the spine decreased after inflection in all animals.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetabuloplasty for congenital dislocation of the hip in children.

A modified acetabuloplasty, which has been employed at our hospital since 1977, is described for the treatment of congenital dislocation of the hip in children. The procedure has been performed on a total of 74 hips in 61 children (average age 6.7 years), with satisfactory results obtained in 87.8% of hips. The technique, its indications, and pre- and postoperative management are detailed. The procedure possesses the advantages of both the shelf and Pemberton procedures and has proved to be an effective operation for older children with poor acetabular development. Our results show that, when performed correctly, this procedure is simple, safe, and effective.

Idiopathic contracture of the gluteus maximus muscle in children.

Restriction of motion of the hip caused by contracture of the gluteus maximus is not uncommon. Twenty-seven children with this disorder were reviewed between 1975 and 1983. The clinical manifestations are very characteristic. All patients underwent surgical release of the fibrotic contracture tissue of the gluteus maximus with good results. The etiology of the disorder remains unknown. It is likely that the primary cause might be congenital in origin and that some predisposing condition exists. In addition, intramuscular injection might play an important role.