Minimum 10-Year Clinical and Functional Outcomes, and Return to Sport After Sternoclavicular Joint Reconstruction for Sternoclavicular Joint Instability.

Background: Sternoclavicular joint (SCJ) instability can lead to pain, reduced function, and an inability to perform sports and activities of daily living. Reconstruction of the SCJ using hamstring autograft in a figure-of-8 configuration has demonstrated good outcomes at short- and midterm follow-ups, but there is a paucity of literature on long-term outcomes.

Purpose: To evaluate the long-term clinical and functional outcomes after SCJ reconstruction, with a focus on return to sport, instability recurrence, and revision surgery.

Do preoperative scapular fractures affect long-term outcomes after reverse shoulder arthroplasty?

Background: Postoperative scapular stress fractures (SSFs) are a formidable problem after reverse shoulder arthroplasty (RSA). Less is known about patients who have these fractures preoperatively. The primary aim of this study was to examine postoperative satisfaction in patients undergoing primary RSA who have preoperative SSF and compared to a matched cohort without preoperative fracture.

Analyzing Consequence Variables Within the High-Probability Instructional Sequence for a Child Diagnosed With CHARGE Syndrome.

Many individuals with developmental disabilities exhibit noncompliance during intensive instruction. As a treatment for noncompliance, the high-probability instructional sequence (high-p sequence) consists of delivering several high-p instructions before a low-p instruction. The purpose of this study was to extend the research on comparing consequences for high-p demands-namely, praise, edibles, and videos-with an 11-year-old girl diagnosed with CHARGE syndrome.

Noncontingent reinforcement: Arbitrary versus maintaining reinforcers for escape-maintained problem behavior.

Noncontingent reinforcement (NCR) involves the delivery of maintaining reinforcers on a time-dependent schedule and often includes extinction. However, arbitrary reinforcers may be equally efficacious during NCR without extinction for treating escape-maintained problem behavior. The purpose of this study was to extend previous research on NCR by evaluating the relative efficacy of NCR without extinction and comparing maintaining versus arbitrary reinforcers for 4 individuals with escape-maintained problem behavior.

Intra-articular Fracture Pattern in Intercondylar Distal Femur Fractures: An Analysis of Frequency and Major Fracture Fragments.

Introduction: The treatment of intercondylar distal femur fractures requires anatomic reduction of intra-articular fragments and absolute fixation. Preoperative planning is necessary to understand fracture morphology. All fracture lines need to be recognized as the primary implant may not capture all articular fragments, mainly when coronal plane fractures are present.

Surgical Options and Approaches for Septic Arthritis of the Native Hip and Knee Joint.

Septic arthritis (SA) of the adult knee and hip is a constantly evolving and urgent surgical issue. The epidemiology has shifted over the last few decades as have the most popular antibiotics and surgical treatments. SA of all types is increasing in the United States.

Flexor Tenosynovectomy for Recurrent Carpal Tunnel Syndrome: A Retrospective Case Series of 108 Hands.

The etiology of recurrent carpal tunnel syndrome (CTS) is unclear, and outcomes following secondary surgery in this demographic have been poorer than primary surgery. Fibrosis and hypertrophy have been identified in the flexor tenosynovium in these patients. The authors use flexor tenosynovectomy (FTS) for recurrent CTS after primary carpal tunnel release and present a review of these patients.

Trampoline-Related Injuries: A Comparison of Injuries Sustained at Commercial Jump Parks Versus Domestic Home Trampolines.

Introduction: The nature of trampoline injuries may have changed with the increasing popularity of recreational jump parks.

Methods: A retrospective review was performed evaluating domestic trampoline and commercial jump park injuries over a 2-year period.

Results: There were 439 trampoline injuries: 150 (34%) at jump parks versus 289 (66%) on home trampolines.

Somatic cancer variant curation and harmonization through consensus minimum variant level data.

Background: To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (ClinGen), in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD). MVLD is a framework of standardized data elements to curate cancer variants for clinical utility.

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Background: Genomic deletions, inversions, and other rearrangements known collectively as structural variations (SVs) are implicated in many human disorders. Technologies for sequencing DNA provide a potentially rich source of information in which to detect breakpoints of structural variations at base-pair resolution. However, accurate prediction of SVs remains challenging, and existing informatics tools predict rearrangements with significant rates of false positives or negatives.

Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.

Introduction: The association between smoking-induced chronic obstructive pulmonary disease (COPD) and lung cancer (LC) is well documented. Recent genome-wide association studies (GWAS) have identified 28 susceptibility loci for LC, 10 for COPD, 32 for smoking behavior, and 63 for pulmonary function, totaling 107 nonoverlapping loci. Given that common variants have been found to be associated with LC in genome-wide association studies, exome sequencing of these high-priority regions has great potential to identify novel rare causal variants.

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.

Background: Papillary renal-cell carcinoma, which accounts for 15 to 20% of renal-cell carcinomas, is a heterogeneous disease that consists of various types of renal cancer, including tumors with indolent, multifocal presentation and solitary tumors with an aggressive, highly lethal phenotype. Little is known about the genetic basis of sporadic papillary renal-cell carcinoma, and no effective forms of therapy for advanced disease exist.

Methods: We performed comprehensive molecular characterization of 161 primary papillary renal-cell carcinomas, using whole-exome sequencing, copy-number analysis, messenger RNA and microRNA sequencing, DNA-methylation analysis, and proteomic analysis.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

Background: Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural variants (SVs), they remain less characterized than smaller variants because of SV diversity, complexity, and size. These challenges are exacerbated by the experimental and computational demands of SV analysis.

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.

Purpose: We applied whole-genome sequencing (WGS) to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations to discover novel genic disruptions.

Methods: We applied the structural variation (SV) calling programs CREST, BreakDancer, SV-STAT, and CGAP-CNV, and we developed an annotative filtering strategy to achieve nucleotide resolution at the translocations.

Results: We identified the breakpoints for t(6;12)(p21.

Device-based in vitro techniques for mechanical stimulation of vascular cells: a review.

The most common cause of death in the developed world is cardiovascular disease. For decades, this has provided a powerful motivation to study the effects of mechanical forces on vascular cells in a controlled setting, since these cells have been implicated in the development of disease. Early efforts in the 1970 s included the first use of a parallel-plate flow system to apply shear stress to endothelial cells (ECs) and the development of uniaxial substrate stretching techniques (Krueger et al.

The somatic genomic landscape of chromophobe renal cell carcinoma.

We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, including mtDNA and whole-genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared with other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation.

In vitro biomechanical comparison of 3.5 mm LC-DCP/intramedullary rod and 5 mm clamp-rod internal fixator (CRIF)/intramedullary rod fixation in a canine femoral gap model.

Objective: To compare the biomechanical properties of clamp rod internal fixation (CRIF)/rod and LC-DCP/rod constructs in a canine femoral gap model.

Study Design: Cadaveric biomechanical study.

Sample Population: Canine femora (n = 10 pair).

Unusual presentation of toxoplasma gondii encephalitis.

We report a case of altered mental status secondary to acute Toxoplasma Gondii encephalitis. The patient had no medical or surgical history and presented with acute onset of lethargy with no clear precipitant. A physical exam revealed no focal neurological deficits and a subsequent medical workup revealed multiple intracranial lesions with a biopsy confirming the diagnosis of Toxoplasma Gondii encephalitis in the setting of newly diagnosed human immunodeficiency virus (HIV).

Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium.

Gliomas, which generally have a poor prognosis, are the most common primary malignant brain tumors in adults. Recent genome-wide association studies have shown that inherited susceptibility plays a role in the development of glioma. Although first-degree relatives of patients exhibit a two-fold increased risk of glioma, the search for susceptibility loci in familial forms of the disease has been challenging because the disease is relatively rare, fatal, and heterogeneous, making it difficult to collect sufficient biosamples from families for statistical power.

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Ion channel mutations are an important cause of rare Mendelian disorders affecting brain, heart, and other tissues. We performed parallel exome sequencing of 237 channel genes in a well-characterized human sample, comparing variant profiles of unaffected individuals to those with the most common neuronal excitability disorder, sporadic idiopathic epilepsy. Rare missense variation in known Mendelian disease genes is prevalent in both groups at similar complexity, revealing that even deleterious ion channel mutations confer uncertain risk to an individual depending on the other variants with which they are combined.

Bayesian estimation of genomic copy number with single nucleotide polymorphism genotyping arrays.

Background: The identification of copy number aberration in the human genome is an important area in cancer research. We develop a model for determining genomic copy numbers using high-density single nucleotide polymorphism genotyping microarrays. The method is based on a Bayesian spatial normal mixture model with an unknown number of components corresponding to true copy numbers.

Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain.

The spatial coordination of neurotransmitter receptors with other postsynaptic signaling and structural molecules is regulated by a diverse array of cell-specific scaffolding proteins. The synaptic trafficking of AMPA receptors by the stargazin protein in some neurons, for example, depends on specific interactions between the C terminus of stargazin and the PDZ [postsynaptic density-95 (PSD-95)/Discs large/zona occludens-1] domains of membrane-associated guanylate kinase scaffolding proteins PSD-93 or PSD-95. Stargazin [Cacng2 (Ca2+ channel gamma2 subunit)] is one of four closely related proteins recently categorized as transmembrane AMPA receptor regulating proteins (TARPs) that appear to share similar functions but exhibit distinct expression patterns in the CNS.

The alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionate receptor trafficking regulator "stargazin" is related to the claudin family of proteins by Its ability to mediate cell-cell adhesion.

Mutations in the Cacng2 gene encoding the neuronal transmembrane protein stargazin result in recessively inherited epilepsy and ataxia in "stargazer" mice. Functional studies suggest a dual role for stargazin, both as a modulatory gamma subunit for voltage-dependent calcium channels and as a regulator of post-synaptic membrane targeting for alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionate (AMPA)-type glutamate receptors. Co-immunoprecipitation experiments demonstrate that stargazin can bind proteins of either complex in vivo, but it remains unclear whether it can associate with both complexes simultaneously.

Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction.

The generation of properly functioning circuits during brain development requires precise timing of cell migration and differentiation. Disruptions in the developmental plan may lead to neurological and psychiatric disorders. Neocortical circuits rely on inhibitory GABAergic interneurons, the majority of which migrate from subcortical sources.