Correlates of Northern Bobwhite Distribution and Abundance with Land-Use Characteristics in Kansas

County-level agricultural statistics were correlated with Rural Mail Carrier Survey reports and Breeding Bird Survey data for northern bobwhite (Colinus virginianus) in Kansas. Results indicate statewide analysis is feasible when temporally congruent data exist for both agricultural land-use characteristics and bobwhite distribution and abundance. Interpretations of these results can be useful in state or regional analysis and in the development of habitat management strategies for bobwhite. The Multiple Response Permutation Procedure identified 16 land-use variables, 3 soil variables, and 1 spatial variable that were significantly different in counties where bobwhite were present from counties where they were absent. Sixteen land-use variables, 5 soil variables, and 3 spatial variables distinguished between counties where bobwhite abundance was classified as high or low. Spearman\u27s rank correlation identified 8 soil variables, 14 land-use variables, and 3 spatial variables that were significantly correlated with bobwhite abundance. Least absolute deviation regression analysis revealed 4 land-use variables that were significantly correlated (Agreement= 0.48, P = 0.0001) with bobwhite abundance

ACL graft re-rupture after double-bundle reconstruction: factors that influence the intra-articular pattern of injury

To determine the most common rupture patterns of previously reconstructed DB-ACL cases, seen at the time of revision surgery, and to determine the influence of age, gender, time between the initial ACL reconstruction and re-injury, tunnel angle and etiology of failure. Forty patients who presented for revision surgery after previous double-bundle ACL reconstruction were enrolled. Three orthopedic surgeons independently reviewed the arthroscopic videos and determined the rupture pattern of both the anteromedial and posterolateral grafts. The graft rupture pattern was then correlated with the previously mentioned factors. The most common injury pattern seen at the time of revision ACL surgery was mid-substance AM and PL bundle rupture. Factors that influenced the rupture pattern (proximal vs. mid-substance and distal rupture vs. elongated, but in continuity) were months between ACL reconstruction and re-injury (P = 0.002), the etiology of failure (traumatic vs. atraumatic) (P = 0.025) and the measured graft tunnel angle (P = 0.048). The most common pattern of graft re-rupture was mid-substance AM and mid-substance PL. As the length of time from the initial DB-ACL reconstruction to revision surgery increased, the pattern of injury more closely resembled that of the native ACL. Evaluation of patients who have undergone double-bundle ACL reconstruction, with a particular focus on graft maturity, mechanism of injury and femoral tunnel angles, and graft rupture pattern assists in preoperative planning for revision surger

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21. Fluorescence in situ hybridization analysis narrowed down the region around the breakpoints, and the breakpoint at 6q21 was found to disrupt the CDK19 gene. CDK19 was found to be expressed in a diverse range of tissues including fetal eye and fetal brain. Quantitative PCR of the CDK19 transcript from Epstein–Barr virus-transformed lymphoblastoid cell lines of the patient revealed ~50% reduction in the transcript (p = 0.02), suggesting haploinsufficiency of the gene. cdk8, the closest orthologue of human CDK19 in Drosophila has been shown to play a major role in eye development. Conditional knock-down of Drosophila cdk8 in multiple dendrite (md) neurons resulted in 35% reduced dendritic branching and altered morphology of the dendritic arbour, which appeared to be due in part to a loss of small higher order branches. In addition, Cdk8 mutant md neurons showed diminished dendritic fields revealing an important role of the CDK19 orthologue in the developing nervous system of Drosophila. This is the first time the CDK19 gene, a component of the mediator co-activator complex, has been linked to a human disease

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification

Non–Small Cell Lung Cancer

Most patients with non-small cell lung cancer (NSCLC) are diagnosed with advanced cancer. These guidelines only include information about stage IV NSCLC. Patients with widespread metastatic disease (stage IV) are candidates for systemic therapy, clinical trials, and/or palliative treatment. The goal is to identify patients with metastatic disease before initiating aggressive treatment, thus sparing these patients from unnecessary futile treatment. If metastatic disease is discovered during surgery, then extensive surgery is often aborted. Decisions about treatment should be based on multidisciplinary discussion