An In Vitro Biomechanical Comparison of Anterior Cruciate Ligament Reconstruction: Single Bundle Versus Anatomical Double Bundle Techniques

INTRODUCTION: Anterior cruciate ligament ruptures are frequent, especially in sports. Surgical reconstruction with autologous grafts is widely employed in the international literature. Controversies remain with respect to technique variations as continuous research for improvement takes place. One of these variations is the anatomical double bundle technique, which is performed instead of the conventional single bundle technique. More recently, there has been a tendency towards positioning the two bundles through double bone tunnels in the femur and tibia (anatomical reconstruction). OBJECTIVES: To compare, through biomechanical tests, the practice of anatomical double bundle anterior cruciate ligament reconstruction with a patellar graft to conventional single bundle reconstruction with the same amount of patellar graft in a paired experimental cadaver study. METHODS: Nine pairs of male cadaver knees ranging in age from 44 to 63 years were randomized into two groups: group A (single bundle) and group B (anatomical reconstruction). Each knee was biomechanically tested under three conditions: intact anterior cruciate ligament, reconstructed anterior cruciate ligament, and injured anterior cruciate ligament. Maximum anterior dislocation, rigidity, and passive internal tibia rotation were recorded with knees submitted to a 100 N horizontal anterior dislocation force applied to the tibia with the knees at 30, 60 and 90 degrees of flexion. RESULTS: There were no differences between the two techniques for any of the measurements by ANOVA tests. CONCLUSION: The technique of anatomical double bundle reconstruction of the anterior cruciate ligament with bone-patellar tendon-bone graft has a similar biomechanical behavior with regard to anterior tibial dislocation, rigidity, and passive internal tibial rotation

Physical and pulmonary capacities of individuals with severe coronavirus disease after hospital discharge: A preliminary cross-sectional study based on cluster analysis

OBJECTIVE: This study aimed to analyze the physical and pulmonary capacities of hospitalized patients with severe coronavirus disease and its correlation with the time of hospitalization and complications involved. METHODS: A total of 54 patients, aged ≥18 years of both sexes, were evaluated 2-4 months after hospital discharge in São Paulo, Brazil. The physical characteristics analyzed were muscle strength, balance, flexibility, and pulmonary function. The K-means cluster algorithm was used to identify patients with similar physical and pulmonary capacities, related to the time of hospitalization. RESULTS: Two clusters were derived using the K-means algorithm. Patients allocated in cluster 1 had fewer days of hospitalization, intensive care, and intubation than those in cluster 2, which reflected a better physical performance, strength, balance, and pulmonary condition, even 2-4 months after discharge. Days of hospitalization were inversely related to muscle strength, physical performance, and lung function: hand grip D (r=−0.28, p=0.04), Short Physical Performance Battery score (r=−0.28, p=0.03), and forced vital capacity (r=−0.29, p=0.03). CONCLUSION: Patients with a longer hospitalization time and complications progressed with greater loss of physical and pulmonary capacities

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in attention-deficit/hyperactivity disorder

Many studies have attempted to investigate the genetic susceptibility of Attention-Deficit/ Hyperactivity Disorder (ADHD), but without much success. The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS metaanalysis of ADHD involving children/adolescents. The results from the Brazilian trios showed that cases with de novo SNVs tend not to have de novo CNVs and vice-versa. Although the sample size is small, we could also see that various comorbidities are more frequent in cases with only inherited variants. Moreover, using only genes expressed in brain, we constructed two “in silico” protein-protein interaction networks, one with genes from any analysis, and other with genes with hits in two analyses. Topological and functional analyses of genes in this network uncovered genes related to synapse, cell adhesion, glutamatergic and serotoninergic pathways, both confirming findings of previous studies and capturing new genes and genetic variants in these pathways

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in attention-deficit/hyperactivity disorder

Many studies have attempted to investigate the genetic susceptibility of Attention-Deficit/ Hyperactivity Disorder (ADHD), but without much success. The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS metaanalysis of ADHD involving children/adolescents. The results from the Brazilian trios showed that cases with de novo SNVs tend not to have de novo CNVs and vice-versa. Although the sample size is small, we could also see that various comorbidities are more frequent in cases with only inherited variants. Moreover, using only genes expressed in brain, we constructed two “in silico” protein-protein interaction networks, one with genes from any analysis, and other with genes with hits in two analyses. Topological and functional analyses of genes in this network uncovered genes related to synapse, cell adhesion, glutamatergic and serotoninergic pathways, both confirming findings of previous studies and capturing new genes and genetic variants in these pathways

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved