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Background: Accurate quantification of voluntary activation is important for understanding the extent of quadriceps dysfunction in individuals with anterior cruciate ligament reconstruction (ACLR). Voluntary activation has been quantified using both percent activation derived from the interpolated twitch technique and central activation ratio (CAR) derived from the burst superimposition technique, as well as by using different types of electrical stimulators and pulse train conditions. However, it is unclear how these parameters affect voluntary activation estimates in individuals with ACLR. This study was performed to fill this important knowledge gap in the anterior cruciate ligament literature., Methods: Quadriceps strength and voluntary activation were examined in 18 ACLR participants (12 quadriceps/patellar tendon graft, 6 hamstring tendon graft; time since ACLR: 1.06 ± 0.82 years, mean ±  SD) at 90° of knee flexion using 2 stimulators (Digitimer and Grass) and pulse train conditions (3-pulse and 10-pulse). Voluntary activation was quantified by calculating both CAR and percent activation., Results: Results indicated that voluntary activation was significantly overestimated by CAR when compared with percent activation (p < 0.001). Voluntary activation estimates were not affected by pulse train conditions when using percent activation; however, 3-pulse stimuli resulted in greater overestimation than 10-pulse stimuli when using CAR (p = 0.003). Voluntary activation did not differ between stimulators (p > 0.05); however, the Digitimer evoked greater torque at rest than the Grass (p < 0.001)., Conclusion: These results indicate that percent activation derived from the interpolated twitch technique provides superior estimates of voluntary activation than CAR derived from burst superimposition and is less affected by pulse train conditions or stimulators in individuals with ACLR., (Copyright © 2020. Production and hosting by Elsevier B.V.)

Electrically evoked torque at rest (i.e., the torque produced from supramaximal stimul applied to a resting muscle) has been shown to be related to muscle size in healthy adults, but this relationship has not been evaluated in pathological populations where atrophy is present. This study aimed to evaluate the relationship between the electrically evoked torque at rest and vastus lateralis cross-sectional area (CSA) in individuals with anterior cruciate ligament (ACL) reconstruction. Eighteen individuals with ACL reconstruction participated. Quadriceps electrically evoked torque at rest was elicited bilaterally via sex-specific, standardized supramaximal triplet stimulations. Vastus lateralis CSA was measured at 50% of thigh length using ultrasound. Pearson's r and partial correlations were used to evaluate associations between outcomes. Evoked torque at rest was positively associated with vastus lateralis CSA in the ACL reconstructed limb ( r =0.865, partial r=0.816, P<0.01), non-reconstructed limb ( r =0.628, partial r=0.575, P<0.05), and side-to-side ratios ( r =0.670, partial r=0.659, P<0.01). These results indicate that electrically evoked torque at rest may indirectly assess side-to-side differences in quadriceps muscle size after ACL reconstruction.

Previous research suggests more biomechanically demanding tasks (e.g., stair descent, hopping) magnify biomechanical asymmetries compared with walking after anterior cruciate ligament (ACL) reconstruction. However, it is unclear if modifying task-specific constraints, like walking speed also elicits greater biomechanical asymmetries in this population. We examined the effects of manipulating walking speed on ground reaction force (GRF) asymmetries in individuals with ACL reconstruction and uninjured controls. Thirty individuals with ACL reconstruction (age = 20.6 ± 5.4 years, body mass index [BMI] = 23.9 ± 3.3 kg/m 2 ) and 15 controls (age = 23.1 ± 4.5 years, BMI = 23.6 ± 2.7 kg/m 2 ) were tested on an instrumented treadmill at three speeds (100%, 120%, and 80% self-selected speed). Bilateral vertical and posterior-anterior GRFs were recorded at each speed. GRF asymmetries were calculated by subtracting the uninjured from the injured limb at each percent of stance. Statistical parametric mapping was used to evaluate the effects of speed on GRF asymmetries across stance. We found vertical and posterior GRF asymmetries were exacerbated at faster speeds and reduced at slower speeds in ACL individuals but not controls (p < .05). No differences in anterior GRF asymmetries were observed between speeds in either group (p > .05). Our results suggest increasing walking speed magnifies GRF asymmetries in individuals with ACL reconstruction. Statement of Clinical Significance: Evaluating both preferred and fast walking speeds may aid in characterizing biomechanical asymmetries in individuals with ACL reconstruction which may be valuable in earlier rehabilitative time points when more difficult tasks like hopping and running are not feasible., (© 2021 Orthopaedic Research Society. Published by Wiley Periodicals LLC.)

Introduction: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean., Objective: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes., Methods and Material: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis., Results: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t-test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease., Conclusion: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry., (Copyright © 2021 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

Spinocerebellar ataxia type 10 (SCA10) is characteri- zed by ataxia, psychiatric disorders convulsions, and locus at 22q13.311. It is caused by expansions between 800-4500 pentanucleotide ATTCT repeats in intron 9 of the ATXN10 gene1-2. The ATXN10 gene encodes ataxin-10 protein (known as E46L) involved in neuritogenesis 1. SCA10 has a founder origin in Mexican, Brazilian, Argentine populattons but is rare in others.

Osteochondromas are cartilage-capped tumors that arise near growing physes and are the most common benign bone tumor in children. Osteochondromas can lead to skeletal deformity, pain, loss of motion, and neurovascular compression. Currently, surgery is the only available treatment for symptomatic osteochondromas. Osteochondroma mouse models have been developed to understand the pathology and the origin of osteochondromas and develop therapeutic drugs. Several cartilage regulatory pathways have been implicated in the development of osteochondromas, such as bone morphogenetic protein, hedgehog, and WNT/β-catenin signaling. Retinoic acid receptor-γ is an important regulator of endochondral bone formation. Selective agonists for retinoic acid receptor-γ, such as palovarotene, have been investigated as drugs for inhibition of ectopic endochondral ossification, including osteochondromas. This review discusses the signaling pathways involved in osteochondroma pathogenesis and their possible interactions with the retinoid pathway., (Copyright © 2021 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)

Background: Patients undergoing transcatheter edge-to-edge mitral valve repair (TEER) carry a high risk of rehospitalization due to disease, procedure, patient, hospital, and system related factors., Aims: We aimed to explore the impact of gender on in-hospital mortality and 90-day readmissions in patients undergoing TEER., Methods: We utilized the National Readmission Database from 2012 to 2018 to identify individuals who underwent TEER for mitral regurgitation. Gender-based differences in in-hospital mortality and 90-day readmissions were explored using multivariable logistic regression models., Results: Between 2012 and 2018, an estimated 21,415 TEER procedural hospitalizations were identified, of which 9893 (46.2%) were in women and 11,522 (53.8%) were in men. Compared with men, women were older, from a lower socioeconomic status but had a lower co-morbidity burden. In-hospital mortality rate during the index hospitalization was similar in women and men (2.1% vs. 2.1%, p = 0.908). Ninety-day all-cause and heart failure readmission rates were significantly higher in women compared to men (30.2% vs. 25.4%; p < 0.001 and 28.1% vs. 23.9%; p = 0.020 respectively). In a multivariable analysis, women had 36% greater odds of 90-day readmission compared to men (adjusted odds ratio [aOR] 1.36, 95% CI: 1.22-1.52; p < 0.001). Trend analysis revealed no significant improvement in rates of 90-day readmission during the observation period for men or women (p = 0.245, p = 0.429, respectively)., Conclusions: Following TEER, there has been no significant improvement in 90-day readmission rates between 2012 and 2018. Female gender is associated with higher 90-day all-cause and heart failure readmission rates., (© 2021 Wiley Periodicals LLC.)

Maize (Zea mays L.) is a multi-purpose row crop grown worldwide, which, over time, has often been bred for increased yield at the detriment of lower composition grain quality. Some knowledge of the genetic factors that affect quality traits has been discovered through the study of classical maize mutants; however, much of the underlying genetic control of these traits and the interaction between these traits remains unknown. To better understand variation that exists for grain compositional traits in maize, we evaluated 501 diverse temperate maize inbred lines in five unique environments and predicted 16 compositional traits (e.g., carbohydrates, protein, and starch) based on the output of near-infrared (NIR) spectroscopy. Phenotypic analysis found substantial variation for compositional traits and the majority of variation was explained by genetic and environmental factors. Correlations and trade-offs among traits in different maize types (e.g., dent, sweetcorn, and popcorn) were explored, and significant differences and meaningful correlations were detected. In total, 22.9-71.0% of the phenotypic variation across these traits could be explained using 2,386,666 single nucleotide polymorphism (SNP) markers generated from whole-genome resequencing data. A genome-wide association study (GWAS) was conducted using these same markers and found 72 statistically significant SNPs for 11 compositional traits. This study provides valuable insights in the phenotypic variation and genetic control underlying compositional traits that can be used in breeding programs for improving maize grain quality., (© 2021 The Authors. The Plant Genome published by Wiley Periodicals LLC on behalf of Crop Science Society of America.)

HOX genes appear to play a role in breast cancer progression in a molecular subtype-dependent way. The altered expression of HOXB7, for example, was reported to promote breast cancer progression in specific subtypes. Here we induced HOXB7 overexpression in MDA-MB-231 cells, a cellular model of the Triple-Negative breast cancer molecular subtype, and evaluated the phenotypic changes in cell viability, morphogenesis, migration, invasion, and colony formation. During the phenotypic characterization of the HOXB7-overexpressing cells, we consistently found less aggressive behavior represented by lower cell viability, inhibition of cell migration, invasion, and attachment-independent colony formation capacities added to the more compact and organized spheroid growth in 3D cultures. We then evaluated the expression of putative downstream targets and their direct binding to HOXB7 comparing ChIP-qPCR data generated from HOXB7-overexpressing cells and controls. In the manipulated cells, we found enriched biding of HOXB7 to CTNNB1, EGFR, FGF2, CDH1, DNMT3B, TGFB2, and COMMD7. Taken together, these results highlight the plasticity of the HOXB7 function in breast cancer, according to the cellular genetic background and expression levels, and provide evidence that in Triple-Negative breast cancer cells, HOXB7 overexpression has the potential to promote less aggressive phenotypes.

Purpose: To evaluate stability and performance of a new monofocal anterior capsulotomy-fixated intraocular lens (IOL) (FEMTIS; Teleon Surgical B.V., Spankeren, Netherlands) after femtosecond laser-assisted cataract surgery (FLACS)., Design: Prospective, multicenter, interventional, noncomparative case series., Methods: FLACS with FEMTIS IOL was performed in 336 eyes of 183 cataract patients with fixation of the IOL to the anterior capsulotomy followed up for 12 months. Examination included uncorrected distance visual acuity (UDVA), best-corrected visual acuity (CDVA), subjective refraction, IOL centration, posterior capsule opacification (PCO), and investigators' satisfaction questionnaire., Results: At 12 months, mean IOL rotation was 1.50 ± 1.76 degrees and decentration 0.14 ± 0.14 mm from baseline (day of surgery). Mean horizontal IOL tilt was 0.70 ± 0.60 degrees and vertical 1.15 ± 1.06 degrees relative to the baseline (crystalline lens). Mean distance between IOL and iris was 0.32 mm to 0.36 mm for all measured meridians. Mean UDVA was 0.12 ± 0.14 logMAR (range -0.20 to 0.54 logMAR), mean CDVA -0.01 ± 0.09 logMAR (range -0.30 to 0.20 logMAR). Mean spherical equivalent was 0.35 ± 0.53 diopter (D) and 98% of eyes (n = 235) were within ±1.0 D. Median PCO score was 1 with an Nd:YAG laser rate of 3.1% after 12 months. Most surgeons were very satisfied (median score: 1) with surgery and implanted IOL., Conclusions: Implantation of FEMTIS IOL provided excellent visual and stable refractive outcomes. IOL decentration was very low compared to other published studies and showed an exceptional high in-the-bag stability over a 12-month period. This lens benefits from femtosecond laser capsulotomies. It can be positioned very predictably and offers an optimal platform for toric and multifocal IOL optics., (Copyright © 2020. Published by Elsevier Inc.)

Background: Obesity and female sex are independent risk factors for knee osteoarthritis and also influence gait mechanics. However, the interaction between obesity and sex on gait mechanics is unclear, which may have implications for tailored gait modification strategies., Research Question: The purpose of this study was to examine the influence of obesity and sex on sagittal and frontal plane knee mechanics during gait in young adults., Methods: Forty-eight individuals with (BMI = 33.03 ± 0.59; sex:50 % female; age:21.9 ± 2.6 years) and 48 without obesity (BMI:21.59 ± 0.25; sex:50 % female; age:22.9 ± 3.57 years) matched on age and sex completed over-ground gait assessments at a self-selected speed. Two (BMI) by two (sex) analysis of variance was used to compare knee biomechanics during the first half of stance in the sagittal (knee flexion moment [KFM] and excursion [KFE]) and frontal plane (first peak knee adduction moment [KAM], knee varus velocity [KVV])., Results: We observed a BMI by sex interaction for normalized KFM (P = 0.03). Females had smaller normalized KFM compared to males (P = 0.03), but only in individuals without obesity. Males without obesity had larger normalized KFM compared to males with obesity (P = 0.01), while females did not differ between BMI groups. We observed main effects of sex and BMI group, where females exhibited greater normalized KAM (P < 0.01) and KVV (P < 0.01) compared to males, and individuals with obesity walked with greater KVV compared to those without obesity (P < 0.01). All absolute joint moments were greater in individuals with obesity (all P<0.01) and males had greater absolute KFM compared to females (P < 0.01)., Significance: We observed sex differences in gait mechanics, however, KFM differences between males and females were only evident in individuals without obesity. Further, females and individuals with obesity had a larger KAM and KVV, which may contribute to larger medial compartment joint loading., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objective: Restoring quadriceps muscle strength following anterior cruciate ligament reconstruction (ACLR) may prevent the posttraumatic osteoarthritis that affects over 50% of knees with ACLR. However, a fundamental gap exists in our understanding of how to maximize muscle strength through rehabilitation. Neurological deficits and muscle atrophy are 2 of the leading mechanisms of muscle weakness after ACLR. High-intensity neuromuscular electrical stimulation (NMES) and eccentric exercise (ECC) have been shown to independently target these mechanisms. If delivered in succession, NMES and then ECC may be able to significantly improve strength recovery. The objectives of this study were to evaluate the ability of NMES combined with ECC to restore quadriceps strength and biomechanical symmetry and maintain cartilage health at 9 and 18 months after ACLR., Methods: This study is a randomized, double-blind, placebo-controlled, single-center clinical trial conducted at the University of Michigan. A total of 112 participants between the ages of 14 and 45 years and with an anterior cruciate ligament rupture will be included. Participants will be randomly assigned 1:1 to NMES combined with ECC or NMES placebo combined with ECC placebo. NMES or NMES placebo will be delivered 2 times per week for 8 weeks beginning 10 to 14 days postoperatively and will be directly followed by 8 weeks of ECC or ECC placebo delivered 2 times per week. The co-primary endpoints are change from baseline to 9 months and change from baseline to 18 months after ACLR in isokinetic quadriceps strength symmetry. Secondary outcome measures include isometric quadriceps strength, quadriceps activation, quadriceps muscle morphology (cross-sectional area), knee biomechanics (sagittal plane knee angles and moments), indexes of patient-reported function, and cartilage health (T1ρ and T2 relaxation time mapping on magnetic resonance imaging)., Impact: The findings from this study might identify an intervention capable of targeting the lingering quadriceps weakness after ACLR and in turn prevent deterioration in cartilage health after ACLR, thereby potentially improving function in this patient population., (© The Author(s) 2020. Published by Oxford University Press on behalf of the American Physical Therapy Association. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objective: The relative contribution of muscle size and voluntary activation (VA) on quadriceps strength after anterior cruciate ligament (ACL) reconstruction remains inconclusive. Here, we aimed to determine the contributions of muscle size and VA on quadriceps strength in ACL-reconstructed patients and determine if contributions were similar if unilateral outcomes (i.e. ACL-reconstructed limb) or the LSI was used., Design: A cross-sectional study., Setting: A university research laboratory., Participants: Sixteen individuals 6-12 months after ACL reconstruction (Age: 22.3 ± 6.0yr, Height: 1.7 ± 0.1 m, Mass: 68.7 ± 11.5 kg) were recruited., Main Outcome Measures: Quadriceps isometric strength and VA, via the interpolated triplet technique, were assessed bilaterally. Ultrasound images were acquired of the vastus lateralis to calculate cross-sectional area (CSA) in both legs. LSI's were computed for all variables by expressing values of the reconstructed leg as a percent of the non-reconstructed leg. Separate stepwise linear regressions were performed to examine the contribution of VA and CSA on quadriceps strength. Model 1 used LSI for all outcomes and model 2 used outcomes from the reconstructed leg., Results: We observed between limb deficits of 27.78% in quadriceps strength, 13.61% in vastus lateralis CSA, and 13.18% in VA (P < 0.05). Strength LSI was significantly predicted by VA LSI (R 2  = 0.45, P < 0.01), but not by CSA LSI (R 2  = 0.01, P =0.87). Reconstructed leg strength was significantly predicted by VL CSA (R 2  = 0.50, P < 0.01) but not quadriceps VA (R 2  = 0.08, P =0.11)., Conclusions: The contributions of VA and CSA on quadriceps PT differed greatly if LSI or reconstructed leg outcomes were used. Evaluation of VA and CSA in unison may be provide a more holistic understanding of the sources of muscle weakness after ACL reconstruction., Competing Interests: Declaration of competing interest None Declared., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.

HOX genes are commonly known for their role in embryonic development, defining the positional identity of most structures along the anterior-posterior axis. In postembryonic life, HOX gene aberrant expression can affect several processes involved in tumorigenesis such as proliferation, apoptosis, migration and invasion. Epigenetic modifications are implicated in gene expression deregulation, and it is accepted that methylation events affecting HOX gene expression play crucial roles in tumorigenesis. In fact, specific methylation profiles in the HOX gene sequence or in HOX -associated histones are recognized as potential biomarkers in several cancers, helping in the prediction of disease outcomes and adding information for decisions regarding the patient's treatment. The methylation of some HOX genes can be associated with chemotherapy resistance, and its identification may suggest the use of other treatment options. The use of epigenetic drugs affecting generalized or specific DNA methylation profiles, an approach that now deserves much attention, seems likely to be a promising weapon in cancer therapy in the near future. In this review, we summarize these topics, focusing particularly on how the regulation of epigenetic processes may be used in cancer therapy.

Background: Reductions in muscle size are common after anterior cruciate ligament reconstruction (ACLR) and may contribute to suboptimal patient outcomes. However, few studies have quantified postoperative alterations in muscle quality and evaluated its associations with patient-reported function., Hypotheses: Rectus femoris cross-sectional area (CSA) will decrease postoperatively but improve at return to activity (RTA), rectus femoris muscle quality (percentage fat [PF]) will increase postoperatively and be greater at RTA compared with preoperative values, and rectus femoris CSA and PF will be associated with International Knee Documentation Committee (IKDC) scores at both postoperative time points., Study Design: Case series., Level of Evidence: Level 4., Methods: A total of 26 individuals who sustained an ACL injury and underwent reconstructive surgery were evaluated preoperatively (T 0 ), 9 weeks post-ACLR (T 1 ), and at RTA. Rectus femoris CSA and PF were evaluated bilaterally via ultrasound imaging, and patient-reported function was assessed using the IKDC score., Results: Bilateral reductions in rectus femoris CSA were noted from T 0 to T 1 ( P < 0.01). Only the uninvolved limb returned to preoperative CSA ( P = 0.80), as the involved limb failed to return to preoperative levels at RTA ( P = 0.04). No significant changes in rectus femoris PF were observed across time points ( P > 0.05). Lesser PF ( P < 0.01) but not CSA ( P = 0.75) was associated with higher IKDC score at T 1 . Lesser PF ( P = 0.04) and greater CSA ( P = 0.05) was associated with higher IKDC score at RTA., Conclusion: Substantial atrophy occurs bilaterally after ACLR, and the involved limb does not return to preoperative muscle size despite the patient completing rehabilitation. Quadriceps muscle morphology is associated with patient-reported function and may be an important rehabilitation target after ACLR., Clinical Relevance: Quadriceps atrophy and poor muscle quality may contribute to suboptimal patient functioning and quadriceps dysfunction and may be important in RTA decision making. Assessing muscle morphology using ultrasound may be a feasible and clinically beneficial tool in patients after ACLR.

Osteochondromas are cartilage-capped growths located proximate to the physis that can cause skeletal deformities, pain, limited motion, and neurovascular impingement. Previous studies have demonstrated retinoic acid receptor gamma (RARγ) agonists to inhibit ectopic endochondral ossification, therefore we hypothesize that RARγ agonists can target on established osteochondromas. The purpose of this study was to examine the action of RARγ agonist in human osteochondromas. Osteochondroma specimens were obtained during surgery, subjected to explant culture and were treated with RARγ agonists or vehicles. Gene expression analysis confirmed the up-regulation of RARγ target genes in the explants treated with NRX 204647 and Palovarotene and revealed strong inhibition of cartilage matrix and increased extracellular matrix proteases gene expression. In addition, immunohistochemical staining for the neoepitope of protease-cleaved aggrecan indicated that RARγ agonist treatment stimulated cartilage matrix degradation. Interestingly, cell survival studies demonstrated that RARγ agonist treatment stimulated cell death. Moreover, RNA sequencing analysis indicates changes in multiple molecular pathways due to RARγ agonists treatment, showing similarly to human growth plate chondrocytes. Together, these findings suggest that RARγ agonist may exert anti-tumor function on osteochondromas by inhibiting matrix synthesis, promoting cartilage matrix degradation and stimulating cell death.

Breast cancer develops in the mammary glands during mammalian adulthood and is considered the second most common type of human carcinoma and the most incident and mortal in the female population. In contrast to other human structures, the female mammary glands continue to develop after birth, undergoing various modifications during pregnancy, lactation and involution under the regulation of hormones and transcription factors, including those encoded by the HOX clusters (A, B, C, and D). Interestingly, HOX gene deregulation is often associated to breast cancer development. Within the HOXB cluster, 8 out of the 10 genes present altered expression levels in breast cancer with an impact in its aggressiveness and resistance to hormone therapy, which highlights the importance of HOXB genes as potential therapeutic targets used to overcome the limitations of tamoxifen-resistant cancer treatments. Here, we review the current state of knowledge on the role of HOX genes in breast cancer, specially focus on HOXB, discussing the causes and consequences of HOXB gene deregulation and their relevance as prognostic factors and therapeutic targets., Competing Interests: Declaration of competing interest None., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Context: Ultrasound imaging provides a cost-effective method of measuring quadriceps morphology, which may be related to self-reported function after anterior cruciate ligament reconstruction (ACLR)., Objective: To compare quadriceps morphology and strength between limbs in individuals with ACLR and matched control limbs and determine their associations with self-reported function., Design: Cross-sectional study., Setting: Research laboratory., Patients or Other Participants: Forty-two individuals with ACLR (females = 66%; age = 21.8 ± 2.6 years; time since ACLR = 50.5 ± 29.4 months) and 37 controls (females = 73%; age = 21.7 ± 1.2 years)., Main Outcome Measure(s): Quadriceps peak torque (PT) and rate of torque development were assessed bilaterally. Ultrasonography was used to measure the cross-sectional area (CSA) and echo intensity (EI) of the rectus femoris, vastus lateralis (VL), and vastus medialis. Self-reported function was assessed via the International Knee Documentation Committee (IKDC) score and Knee Injury and Osteoarthritis Outcome Score (KOOS) subscales. Paired-samples t tests were calculated to compare involved and uninvolved limbs. Independent t tests were conducted to compare groups (α = .05). Linear regression was performed to analyze associations between quadriceps function and self-reported function after accounting for time since ACLR, activity level, and sex, and models for EI added subcutaneous fat as a covariate., Results: Isometric PT did not differ between limbs or groups. Involved limbs had a lower rate of torque development compared with the control ( P = .01) but not the uninvolved limbs ( P = .08). Vastus lateralis CSA was smaller in the involved than in the uninvolved ( P < .01) but not the control limbs ( P = .10). Larger VL CSA (Δ R 2 = 0.103) and lower VL EI (Δ R 2 = 0.076) were associated with a higher IKDC score ( P < .05). Larger VL CSA was associated with greater KOOS Symptoms (Δ R 2 = 0.09, P = .043) and Sport and Recreation (Δ R 2 = 0.125, P = .014) scores. Lower VL EI was associated with higher KOOS Symptoms (Δ R 2 = 0.104, P = .03) and Quality of Life (Δ R 2 = 0.113, P = .01) scores. Quadriceps PT and rate of torque development were not associated with IKDC or KOOS subscale scores., Conclusions: Quadriceps morphology was associated with self-reported function in individuals with ACLR and may provide unique assessments of quadriceps function.

Muscle weakness following anterior cruciate ligament reconstruction (ACLR) increases the risk of posttraumatic osteoarthritis (OA). However, focusing solely on muscle weakness overlooks other aspects like muscle composition, which could hinder strength recovery. Intramuscular fat is a non-contractile element linked to joint degeneration in idiopathic OA, but its role post-ACLR has not been thoroughly investigated. To bridge this gap, we aimed to characterize quadriceps volume and intramuscular fat in participants with ACLR (male/female = 15/9, age = 22.8 ± 3.6 years, body mass index [BMI] = 23.2 ± 1.9, time since surgery = 3.3 ± 0.9 years) and in controls (male/female = 14/10, age = 22.0 ± 3.1 years, BMI = 23.3 ± 2.6) while also exploring the associations between intramuscular fat and muscle volume with isometric strength. Linear mixed effects models assessed (I) muscle volume, (II) intramuscular fat, and (III) strength between limbs (ACLR vs. contralateral vs. control). Regression analyses were run to determine if intramuscular fat or volume were associated with quadriceps strength. The ACLR limb was 8%-11% smaller than the contralateral limb (p < 0.05). No between-limb differences in intramuscular fat were observed (p = 0.091-0.997). Muscle volume but not intramuscular fat was associated with strength in the ACLR and control limbs (p < 0.001-0.002). We demonstrate that intramuscular fat does not appear to be an additional source of quadriceps dysfunction following ACLR and that muscle size only explains some of the variance in muscle strength., (© 2024 Orthopaedic Research Society.)

Phenotypic plasticity describes a genotype's ability to produce different phenotypes in response to different environments. Breeding crops that exhibit appropriate levels of plasticity for future climates will be crucial to meeting global demand, but knowledge of the critical environmental factors is limited to a handful of well-studied major crops. Using 727 maize (Zea mays L.) hybrids phenotyped for grain yield in 45 environments, we investigated the ability of a genetic algorithm and two other methods to identify environmental determinants of grain yield from a large set of candidate environmental variables constructed using minimal assumptions. The genetic algorithm identified pre- and postanthesis maximum temperature, mid-season solar radiation, and whole season net evapotranspiration as the four most important variables from a candidate set of 9150. Importantly, these four variables are supported by previous literature. After calculating reaction norms for each environmental variable, candidate genes were identified and gene annotations investigated to demonstrate how this method can generate insights into phenotypic plasticity. The genetic algorithm successfully identified known environmental determinants of hybrid maize grain yield. This demonstrates that the methodology could be applied to other less well-studied phenotypes and crops to improve understanding of phenotypic plasticity and facilitate breeding crops for future climates., (© 2024 The Author(s). New Phytologist © 2024 New Phytologist Foundation. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

The intricate interplay between Homeobox genes, long non-coding RNAs (lncRNAs), and the development of malignancies represents a rapidly expanding area of research. Specific discernible lncRNAs have been discovered to adeptly regulate HOX gene expression in the context of cancer, providing fresh insights into the molecular mechanisms that govern cancer development and progression. An in-depth comprehension of these intricate associations may pave the way for innovative therapeutic strategies in cancer treatment. The HOX gene family is garnering increasing attention due to its involvement in immune system regulation, interaction with long non-coding RNAs, and tumor progression. Although initially recognized for its crucial role in embryonic development, this comprehensive exploration of the world of HOX genes contributes to our understanding of their diverse functions, potentially leading to immunology, developmental biology, and cancer research discoveries. Thus, the primary objective of this review is to delve into these aspects of HOX gene biology in greater detail, shedding light on their complex functions and potential therapeutic applications., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

The NIH-funded center for autophagy research named Autophagy, Inflammation, and Metabolism (AIM) Center of Biomedical Research Excellence, located at the University of New Mexico Health Science Center is now completing its second year as a working center with a mission to promote autophagy research locally, nationally, and internationally. The center has thus far supported a cadre of 6 junior faculty (mentored PIs; mPIs) at a near-R01 level of funding. Two mPIs have graduated by obtaining their independent R01 funding and 3 of the remaining 4 have won significant funding from NIH in the form of R21 and R56 awards. The first year and a half of setting up the center has been punctuated by completion of renovations and acquisition and upgrades for equipment supporting autophagy, inflammation and metabolism studies. The scientific cores usage, and the growth of new studies is promoted through pilot grants and several types of enablement initiatives. The intent to cultivate AIM as a scholarly hub for autophagy and related studies is manifested in its Vibrant Campus Initiative, and the Tuesday AIM Seminar series, as well as by hosting a major scientific event, the 2019 AIM symposium, with nearly one third of the faculty from the International Council of Affiliate Members being present and leading sessions, giving talks, and conducting workshop activities. These and other events are often videostreamed for a worldwide scientific audience, and information about events at AIM and elsewhere are disseminated on Twitter and can be followed on the AIM web site. AIM intends to invigorate research on overlapping areas between autophagy, inflammation and metabolism with a number of new initiatives to promote metabolomic research. With the turnover of mPIs as they obtain their independent funding, new junior faculty are recruited and appointed as mPIs. All these activities are in keeping with AIM's intention to enable the next generation of autophagy researchers and help anchor, disseminate, and convey the depth and excitement of the autophagy field.

There was no global guidance or agreement regarding when a country has an adequate system to report on the service packages among human immunodeficiency virus (HIV) key populations. This article describes an approach to categorizing the system in a country for reporting the service package among HIV key populations. The approach consists of four dimensions, namely the epidemiological significance, comprehensiveness of the service packages, geographic coverage of services, and adequacy of the monitoring system. The proposed categorization approach utilizes available information and can inform the improvement of the service delivery and monitoring systems among HIV key populations.

Purpose: Obesity influences gait and muscle function, which may contribute to knee osteoarthritis. This study aimed 1) to compare gait biomechanics and quadriceps function between individuals with and without obesity and 2) to examine the association between quadriceps function and gait biomechanics., Methods: Forty-eight individuals with and 48 without obesity participated and were matched on age and sex. Gait biomechanics at standardized and self-selected speeds were used to assess peak vertical ground reaction force (vGRF), vertical loading rate (vLR), internal knee extension moment (KEM), peak knee flexion angle (KFA), knee flexion excursion (KFE), and knee joint stiffness. Quadriceps function was assessed using peak isometric strength (peak torque), early (RTD100) and late (RTD200) rate of torque development (RTD), and vastus lateralis cross-sectional area (CSA) and echo intensity (EI)., Results: When normalized to fat-free mass, individuals with obesity had lower RTD100 (P = 0.04) and RTD200 (P = 0.02) but higher vastus lateralis CSA (P < 0.01) and EI (P < 0.01) compared with normal weight controls. The group-speed interaction was significant for normalized vGRF (P < 0.01), normalized vLR (P = 0.02), normalized KEM (P = 0.03), and normalized knee joint stiffness (P = 0.02). Post hoc analyses indicate a smaller normalized vGRF and normalized KEM, and lower knee joint stiffness in individuals with obesity compared with normal weight controls at self-selected speed. There were main effects of speed for all kinematic and kinetic variables, and body mass index group for all absolute kinetic variables as well as normalized vGRF (all P < 0.001). A lower vastus lateralis EI (P = 0.04) and greater RTD100 (P < 0.01) were associated with a larger KEM in individuals with obesity., Conclusion: Individuals with obesity have quadriceps dysfunction that is weakly associated with KEM during walking. Exercise interventions that improve quadriceps function may improve walking mechanics.

Background: Following anterior cruciate ligament reconstruction (ACLR), individuals have quadriceps muscle impairments that influence gait mechanics and may contribute to an elevated risk of knee osteoarthritis., Objectives: To compare running mechanics and quadriceps function between individuals who have undergone ACLR and those in a control group, and to evaluate the association between quadriceps function and running mechanics., Methods: In this controlled, cross-sectional laboratory study, 38 individuals who previously underwent primary unilateral ACLR (mean ± SD time since reconstruction, 48.0 ± 25.0 months) were matched to 38 control participants based on age, sex, and body mass index, and underwent assessments of quadriceps muscle performance and running biomechanics. Quadriceps muscle performance was assessed via isokinetic and isometric knee extension peak torque and rate of torque development (RTD) over 2 time frames: 0 to 100 milliseconds (RTD100) and 0 to 200 milliseconds (RTD200). Running evaluation included assessment of the knee flexion angle (KFA), knee extension moment (KEM), rate of knee extension moment (RKEM), vertical instantaneous loading rate, and vertical impact peak., Results: On average, there was a smaller KFA (P = .016) in the involved limb compared to the uninvolved limb in the ACLR group. Compared to limbs in the control group, involved limbs in the ACLR group had lower RTD100 (P = .015), lower peak torque at 60°/s (P = .007), lower peak torque at 180°/s (P = .016), smaller KFA (P<.001), lower KEM (P = .001), lower RKEM (P = .004), and higher vertical instantaneous loading rate (P = .016). Compared to limbs in the control group, uninvolved limbs in the ACLR group had lower RTD100 (P = .003), lower peak torque at 60°/s (P = .017), and smaller KFA (P = .01). For the involved limbs in the ACLR group, there was a low correlation between isokinetic peak torque at 180°/s and RKEM (r = 0.38, P = .01), and a negligible correlation between RTD100 and RKEM (r = 0.26, P<.05). No differences were found in isometric strength for any comparison., Conclusion: Individuals who have undergone ACLR have bilateral alterations in running mechanics that are weakly associated with diminished quadriceps muscle performance. J Orthop Sports Phys Ther 2018;48(12):960-967. Epub 22 Jul 2018. doi:10.2519/jospt.2018.8170.

Rabies virus is a neurotropic lyssavirus which is 100% fatal in its pathogenic form when reaching unprotected CNS tissues. Death can be prevented by mechanisms delivering appropriate immune effectors across the blood-brain barrier which normally remains intact during pathogenic rabies virus infection. One therapeutic approach is to superinfect CNS tissues with attenuated rabies virus which induces blood-brain barrier permeability and immune cell entry. Current thinking is that peripheral rabies immunization is sufficient to protect against a challenge with pathogenic rabies virus. While this is undoubtedly the case if the virus is confined to the periphery, what happens if the virus reaches the CNS is less well-understood. In the current study, we find that peripheral immunization does not fully protect mice long-term against an intranasal challenge with pathogenic rabies virus. Protection is significantly better in mice that have cleared attenuated virus from the CNS and is associated with a more robust CNS recall response evidently due to the presence in CNS tissues of elevated numbers of lymphocytes phenotypically resembling long-term resident immune cells. Adoptive transfer of cells from rabies-immune mice fails to protect against CNS challenge with pathogenic rabies virus further supporting the concept that long-term resident immune cell populations must be established in brain tissues to protect against a subsequent CNS challenge with pathogenic rabies virus.

Background: Individuals with anterior cruciate ligament reconstruction (ACLR) are at greater risk for knee osteoarthritis, which may be in part due to altered gait biomechanics. Articular cartilage thickness is typically imaged using magnetic resonance imaging, which is costly and lacks portability. Ultrasonography may provide an alternative imaging method for articular cartilage. It is unclear if ultrasonographic measurements of cartilage thickness are associated with gait biomechanics in individuals with ACLR., Research Question: To evaluate the association between sagittal and frontal plane knee mechanics during gait and resting femoral cartilage thickness from ultrasonography., Methods: Twenty-five females with ACLR (age = 21.7 ± 2.6 years, time since ACLR = 60.6 ± 24.8 months) completed assessments of walking biomechanics and resting femoral cartilage thickness. Linear regression examined the association between gait biomechanics and cartilage thickness at the medial (MC) and lateral (LC) femoral condyles, and intercondylar notch (IC) after accounting for time since ACLR, meniscal injury, and gait speed., Results: In the ACLR limb, larger vertical ground reaction force (ΔR 2  = 0.21, pΔ = 0.03), knee flexion angle (ΔR 2  = 0.15, pΔ = 0.05), knee flexion excursion (KFE) (ΔR 2  = 0.16, pΔ = 0.04), and knee flexion impulse (KFI) (ΔR 2  = 0.23, pΔ = 0.02) were associated with thicker MC cartilage. A larger knee adduction angle (ΔR 2  = 0.20, pΔ = 0.03) and knee adduction moment (KAM) (ΔR 2  = 0.20, pΔ = 0.03) were associated with thinner MC thickness. Larger KFE (ΔR 2  = 0.20, pΔ = 0.03) was associated with thicker LC cartilage. Gait biomechanics were not associated with IC cartilage thickness. After accounting for co-variates, the combination of KFI and KAM was predictive of MC thickness (ΔR 2  = 0.37, pΔ = 0.01; Total R 2  = 0.52, p = 0.02). Meniscal injury, KAM, and KFI were significant predictors in the model. In the contralateral limb, KFE was associated with thicker MC cartilage (ΔR 2  = 0.16, pΔ = 0.05)., Significance: Sagittal and frontal plane knee mechanics during gait are uniquely associated with ultrasonographic measurements of femoral cartilage thickness in individuals with ACLR. Furthermore, concomitant medial meniscal injury was associated with thinner MC cartilage., (Copyright © 2018 Elsevier B.V. All rights reserved.)

PHLDA1 (pleckstrin homology-like domain, family A, member 1) is a multifunctional protein that plays distinct roles in several biological processes including cell death and therefore its altered expression has been identified in different types of cancer. Progressively loss of PHLDA1 was found in primary and metastatic melanoma while its overexpression was reported in intestinal and pancreatic tumors. Previous work from our group showed that negative expression of PHLDA1 protein was a strong predictor of poor prognosis for breast cancer disease. However, the function of PHLDA1 in mammary epithelial cells and the tumorigenic process of the breast is unclear. To dissect PHLDA1 role in human breast epithelial cells, we generated a clone of MCF10A cells with stable knockdown of PHLDA1 and performed functional studies. To achieve reduced PHLDA1 expression we used shRNA plasmid transfection and then changes in cell morphology and biological behavior were assessed. We found that PHLDA1 downregulation induced marked morphological alterations in MCF10A cells, such as changes in cell-to-cell adhesion pattern and cytoskeleton reorganization. Regarding cell behavior, MCF10A cells with reduced expression of PHLDA1 showed higher proliferative rate and migration ability in comparison with control cells. We also found that MCF10A cells with PHLDA1 knockdown acquired invasive properties, as evaluated by transwell Matrigel invasion assay and showed enhanced colony-forming ability and irregular growth in low attachment condition. Altogether, our results indicate that PHLDA1 downregulation in MCF10A cells leads to morphological changes and a more aggressive behavior.

Purpose: Neuromuscular deficits and atrophy after anterior cruciate ligament reconstruction (ACLR) may be accompanied by changes in muscle composition and poor quadriceps muscle quality (QMQ). Quadriceps atrophy occurs after ACLR but improves within the first three postoperative months, yet this hypertrophy could be attributable to increases in noncontractile tissue (i.e., poor QMQ). The purposes of this study were to evaluate changes in QMQ after ACLR and to determine if changes in QMQ and cross-sectional area (CSA) occur in parallel or independently., Methods: A longitudinal prospective cohort design was implemented to evaluate QMQ and CSA in 20 individuals with ACLR and 12 healthy controls. Participants completed three testing sessions (baseline/presurgery, 1 month, and 3 months) during which ultrasound images were obtained from the vastus lateralis (VL) and rectus femoris (RF). QMQ was calculated as the echo intensity (EI) of each image, with high EI representing poorer QMQ. Anatomical CSA was also obtained from each image., Results: RF and VL EI were greater at 1 and 3 months in the ACLR limb compared with baseline and the contralateral limb and did not change between 1 and 3 months. VL and RF CSA in the ACLR limb were smaller at 1 and 3 months compared with the contralateral limb and controls (VL only) but increased from 1 to 3 months. Changes in QMQ and CSA were not correlated., Conclusions: QMQ declines within the first month after ACLR and does not improve by 3 months although hypertrophy occurs, suggesting that these morphological characteristics change independently after ACLR. Poorer QMQ represents greater concentration of noncontractile tissues within the muscle and potentially contributes to chronic quadriceps dysfunction observed after ACLR., (Copyright © 2023 by the American College of Sports Medicine.)

Despite the advantages of easy applicability and cost-effectiveness, colorectal cancer mouse models based on tumor cell injection have severe limitations and do not accurately simulate tumor biology and tumor cell dissemination. Genetically engineered mouse models have been introduced to overcome these limitations; however, such models are technically demanding, especially in large organs such as the colon in which only a single tumor is desired. As a result, an immunocompetent, genetically engineered mouse model of colorectal cancer was developed which develops highly uniform tumors and can be used for tumor biology studies as well as therapeutic trials. Tumor development is initiated by surgical, segmental infection of the distal colon with adeno-cre virus in compound conditionally mutant mice. The tumors can be easily detected and monitored via colonoscopy. We here describe the surgical technique of segmental adeno-cre infection of the colon, the surveillance of the tumor via high-resolution colonoscopy and present the resulting colorectal tumors.

Immunotherapeutic strategies for malignant glioma have to overcome the immunomodulatory activities of M2 monocytes that appear in the circulation and as tumor-associated macrophages (TAMs). M2 cell products contribute to the growth-promoting attributes of the tumor microenvironment (TME) and bias immunity toward type 2, away from the type 1 mechanisms with antitumor properties. To drive type 1 immunity in CNS tissues, we infected GL261 tumor-bearing mice with attenuated rabies virus (RABV). These neurotropic viruses spread to CNS tissues trans -axonally, where they induce a strong type 1 immune response that involves Th1, CD8, and B cell entry across the blood-brain barrier and virus clearance in the absence of overt sequelae. Intranasal infection with attenuated RABV prolonged the survival of mice bearing established GL261 brain tumors. Despite the failure of virus spread to the tumor, infection resulted in significantly enhanced tumor necrosis, extensive CD4 T cell accumulation, and high levels of the proinflammatory factors IFN-γ, TNF-α, and inducible NO synthase in the TME merely 4 d postinfection, before significant virus spread or the appearance of RABV-specific immune mechanisms in CNS tissues. Although the majority of infiltrating CD4 cells appeared functionally inactive, the proinflammatory changes in the TME later resulted in the loss of accumulating M2 and increased M1 TAMs. Mice deficient in the Th1 transcription factor T-bet did not gain any survival advantage from RABV infection, exhibiting only limited tumor necrosis and no change in TME cytokines or TAM phenotype and highlighting the importance of type 1 mechanisms in this process., (Copyright © 2017 by The American Association of Immunologists, Inc.)

Teosinte ( Zea mays ssp. parviglumis ) is the wild ancestor of modern maize ( Zea mays ssp. mays ). Teosinte contains greater genetic diversity compared with maize inbreds and landraces, but its use is limited by insufficient genetic resources to evaluate its value. A population of teosinte near isogenic lines (NILs) was previously developed to broaden the resources for genetic diversity of maize, and to discover novel alleles for agronomic and domestication traits. The 961 teosinte NILs were developed by backcrossing 10 geographically diverse parviglumis accessions into the B73 (reference genome inbred) background. The NILs were grown in two replications in 2009 and 2010 in Columbia, MO and Aurora, NY, respectively, and near infrared reflectance spectroscopy and nuclear magnetic resonance calibrations were developed and used to rapidly predict total kernel starch, protein, and oil content on a dry matter basis in bulk whole grains of teosinte NILs. Our joint-linkage quantitative trait locus (QTL) mapping analysis identified two starch, three protein, and six oil QTL, which collectively explained 18, 23, and 45% of the total variation, respectively. A range of strong additive allelic effects for kernel starch, protein, and oil content were identified relative to the B73 allele. Our results support our hypothesis that teosinte harbors stronger alleles for kernel composition traits than maize, and that teosinte can be exploited for the improvement of kernel composition traits in modern maize germplasm., (Copyright © 2017 Karn et al.)

Docetaxel is an effective drug for the treatment of metastatic breast cancer. However, the exact mechanisms and/or markers associated with chemosensitivity or resistance to docetaxel remain unclear. We previously showed that the expression of prostate apoptosis response 4 (PAR4) inhibits the growth of MCF7 breast cancer cells and increases their sensitivity to docetaxel. Using cDNA microarray analysis, we evaluated transcriptome changes in MCF7 cells expressing increased levels of PAR4 and control cells before and after docetaxel treatment. Some of the top gene networks generated from the differentially expressed genes were related to the wingless‑type MMTV integration 1 (WNT) canonical (WNT/β-catenin) and non‑canonical (β‑catenin‑independent) pathways. The Human WNT signaling pathway RT2 profiler™ PCR array was used to validate the effects of PAR4 on the expression pattern of genes involved in the WNT pathway. CACNAD2A3, GDF5 and IL6 were upregulated and NANOG was downregulated in the MCF7 breast cancer cells expressing increased levels of PAR4 after treatment with docetaxel, likely indicating inactivation of the WNT/β-catenin pathway. Upregulation of FGF7, LEF1 and TWIST1 indicated activation of the WNT/β‑catenin pathway. Although preliminary, our findings could be of particular interest for understanding the action of PAR4 in chemosensitivity, particularly to increase the specificity and effectiveness of drug treatment and overcome resistance to chemotherapy. Further studies are needed to better understand the biological roles of PAR4 in the regulation of WNT pathways in breast cancer cells in response to docetaxel and other chemotherapeutic agents.

Objective: To investigate, with a qualitative approach, the role of Obstetric Nurses at the primary level of care given to women's health as a vital component of the multidisciplinary team, which today is fundamental for providing care, prevention as well as health education and promotion, especially in programs whose activities are geared towards primary care of pregnant, parturient, and puerpera women., Methods: Brazilian laws and the determinations of Nursing Councils in reference to the activities of the obstetric nurse were researched, including the nurse's responsibilities and limits. The bibliographic search was conducted in health-related journals, lay publications, and the Internet., Results: The conflicts between professional physicians and nurses were discussed., Conclusions: It was concluded that the activities of the nurse, conducting low-risk prenatal clinical visits in the basic healthcare network, has legal and ethical support and provides true benefit to the clients.

Objective: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM)., Methods: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining., Results: (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes., Conclusions: The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM.

Seed traits have been targeted by human selection during the domestication of crop species as a way to increase the caloric and nutritional content of food during the transition from hunter-gather to early farming societies. The primary seed trait under selection was likely seed size/weight as it is most directly related to overall grain yield. Additional seed traits involved in seed shape may have also contributed to larger grain. Maize (Zea mays ssp. mays) kernel weight has increased more than 10-fold in the 9000 years since domestication from its wild ancestor, teosinte (Z. mays ssp. parviglumis). In order to study how size and shape affect kernel weight, we analyzed kernel morphometric traits in a set of 10 maize-teosinte introgression populations using digital imaging software. We identified quantitative trait loci (QTL) for kernel area and length with moderate allelic effects that colocalize with kernel weight QTL. Several genomic regions with strong effects during maize domestication were detected, and a genetic framework for kernel traits was characterized by complex pleiotropic interactions. Our results both confirm prior reports of kernel domestication loci and identify previously uncharacterized QTL with a range of allelic effects, enabling future research into the genetic basis of these traits., (Copyright © 2016 Liu et al.)

Teosinte ( subsp. H. H. Iltis & Doebley) has greater genetic diversity than maize inbreds and landraces ( subsp. ). There are, however, limited genetic resources to efficiently evaluate and tap this diversity. To broaden resources for genetic diversity studies in maize, we developed and evaluated 928 near-isogenic introgression lines (NILs) from 10 teosinte accessions in the B73 background. Joint linkage analysis of the 10 introgression populations identified several large-effect quantitative trait loci (QTL) for days to anthesis (DTA), kernel row number (KRN), and 50-kernel weight (Wt50k). Our results confirm prior reports of kernel domestication loci and identify previously uncharacterized QTL with a range of allelic effects enabling future research into the genetic basis of these traits. Additionally, we used a targeted set of NILs to validate the effects of a KRN QTL located on chromosome 2. These introgression populations offer novel tools for QTL discovery and validation as well as a platform for initiating fine mapping., (Copyright © 2016 Crop Science Society of America.)

Background: TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change., Material and Methods: A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta., Results: The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change., Conclusions: The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population., (Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.)