The Relation Between the Paraphilias and Anxiety in Men: A Case-Control Study.

Despite a multitude of theoretical views, it is still unclear how individuals develop and sustain paraphilic interests (e.g., sexual attraction to children, interest in non-consensual violence).

Mammary-like Carcinoma of the vulva: A diagnostic challenge.

Mammary-like carcinoma of the vulva is incredibly rare with less than 30 cases published since 1935, and the similarities of such pathology between breast cancer metastases, squamous adenocarcinoma, Bartholin gland carcinomas, etc, make an accurate diagnosis challenging. A diagnosis can be made utilizing immunohistochemical staining and patient history to rule out more likely causes such as metastases to ensure a correct diagnosis.

RNA Polymerase II CTD phosphatase Rtr1 fine-tunes transcription termination.

RNA Polymerase II (RNAPII) transcription termination is regulated by the phosphorylation status of the C-terminal domain (CTD). The phosphatase Rtr1 has been shown to regulate serine 5 phosphorylation on the CTD; however, its role in the regulation of RNAPII termination has not been explored. As a consequence of RTR1 deletion, interactions within the termination machinery and between the termination machinery and RNAPII were altered as quantified by Disruption-Compensation (DisCo) network analysis.

A Pivotal Response Treatment Package for Children With Autism Spectrum Disorder: An RCT.

Objectives: Our aim was to conduct a randomized controlled trial to evaluate a pivotal response treatment package (PRT-P) consisting of parent training and clinician-delivered in-home intervention on the communication skills of children with autism spectrum disorder.

Methods: Forty-eight children with autism spectrum disorder and significant language delay between 2 and 5 years old were randomly assigned to PRT-P ( = 24) or the delayed treatment group ( = 24) for 24 weeks. The effect of treatment on child communication skills was assessed via behavioral coding of parent-child interactions, standardized parent-report measures, and blinded clinician ratings.

Plasmacytoid Urothelial Carcinoma of the Urinary Bladder: A Clinicopathologic and Immunohistochemical Analysis of 49 Cases.

Objectives: Plasmacytoid urothelial carcinoma (PUC) of the bladder is a rare histologic variant. We retrospectively analyzed a large series of bladder PUC from a single institution.

Methods: The patients consisted of 44 men and five women with a mean age of 62 years (range, 45-86 years).

Phosphatase Rtr1 Regulates Global Levels of Serine 5 RNA Polymerase II C-Terminal Domain Phosphorylation and Cotranscriptional Histone Methylation.

In eukaryotes, the C-terminal domain (CTD) of Rpb1 contains a heptapeptide repeat sequence of (Y1S2P3T4S5P6S7)n that undergoes reversible phosphorylation through the opposing action of kinases and phosphatases. Rtr1 is a conserved protein that colocalizes with RNA polymerase II (RNAPII) and has been shown to be important for the transition from elongation to termination during transcription by removing RNAPII CTD serine 5 phosphorylation (Ser5-P) at a selection of target genes. In this study, we show that Rtr1 is a global regulator of the CTD code with deletion of RTR1 causing genome-wide changes in Ser5-P CTD phosphorylation and cotranscriptional histone H3 lysine 36 trimethylation (H3K36me3).

Rrp6: Integrated roles in nuclear RNA metabolism and transcription termination.

The yeast RNA exosome is a eukaryotic ribonuclease complex essential for RNA processing, surveillance, and turnover. It is comprised of a barrel-shaped core and cap as well as a 3'-5' ribonuclease known as Dis3 that contains both endo- and exonuclease domains. A second exonuclease, Rrp6, is added in the nucleus.

Analysis and significance of c-MET expression in adenoid cystic carcinoma of the salivary gland.

Adenoid cystic carcinoma (ACC), a rare salivary gland malignancy, is a histogenetic, morphologic, and clinical heterogeneous disease. Extensive efforts have been made to characterize molecular events associated with these tumors, including the identification of prognostic and predictive biomarkers. Increased copy number gain and amplification of c-Met, the cell surface receptor for hepatocyte growth factor, has been shown to enhance tumor growth and invasiveness and promote metastasis in certain tumor types.

The exosome component Rrp6 is required for RNA polymerase II termination at specific targets of the Nrd1-Nab3 pathway.

The exosome and its nuclear specific subunit Rrp6 form a 3'-5' exonuclease complex that regulates diverse aspects of RNA biology including 3' end processing and degradation of a variety of noncoding RNAs (ncRNAs) and unstable transcripts. Known targets of the nuclear exosome include short (<1000 bp) RNAPII transcripts such as small noncoding RNAs (snRNAs), cryptic unstable transcripts (CUTs), and some stable unannotated transcripts (SUTs) that are terminated by an Nrd1, Nab3, and Sen1 (NNS) dependent mechanism. NNS-dependent termination is coupled to RNA 3' end processing and/or degradation by the Rrp6/exosome in yeast.

Phenotypic plasticity in normal breast derived epithelial cells.

Background: Normal, healthy human breast tissue from a variety of volunteer donors has become available for research thanks to the establishment of the Susan G. Komen for the Cure® Tissue Bank at the IU Simon Cancer Center (KTB). Multiple epithelial (K-HME) and stromal cells (K-HMS) were established from the donated tissue.

The interactome of the atypical phosphatase Rtr1 in Saccharomyces cerevisiae.

The phosphatase Rtr1 has been implicated in dephosphorylation of the RNA Polymerase II (RNAPII) C-terminal domain (CTD) during transcription elongation and in regulation of nuclear import of RNAPII. Although it has been shown that Rtr1 interacts with RNAPII in yeast and humans, the specific mechanisms that underlie Rtr1 recruitment to RNAPII have not been elucidated. To address this, we have performed an in-depth proteomic analysis of Rtr1 interacting proteins in yeast.

Child death in the United States: productivity and the economic burden of parental grief.

This article examines the economic consequences associated with the death of a child. The economic costs (funeral and medical expenses and productivity losses) of child death 6 months following the death were estimated based on 213 parents who had experienced the death of a child (usually unexpectedly and predominantly mothers). Findings suggest that productivity losses associated with child death comprise most of the costs and that the economic effects are substantial.

Lateral drill holes decrease strength of the femur: an observational study using finite element and experimental analyses.

Background: Internal fixation of femoral fractures requires drilling holes through the cortical bone of the shaft of the femur. Intramedullary suction reduces the fat emboli produced by reaming and nailing femoral fractures but requires four suction portals to be drilled into the femoral shaft. This work investigated the effect of these additional holes on the strength of the femur.

Cutaneous meningioma: a potential diagnostic pitfall in p63 positive cutaneous neoplasms.

Cutaneous meningiomas are divided into three groups. Type I lesions present at birth and are derived from ectopic arachnoid cells. Type II lesions usually present in adults and are derived from arachnoid cells surrounding nerve bundles.

Expression of MiTF may be helpful in differentiating cellular neurothekeoma from plexiform fibrohistiocytic tumor (histiocytoid predominant) in a partial biopsy specimen.

Background: Overlapping histopathologic features of cellular neurothekeoma (CNT) and plexiform fibrohistiocytic tumor (PFHT), when both are predominantly composed of histiocytoid cells, make distinction between these entities challenging. Some have suggested that CNT and PFHT are related entities. No prior study has demonstrated a reliable immunohistochemical panel to differentiate these entities.

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinopathy. The amyotrophic lateral sclerosis/motor neuron disease phenotype is not yet well characterized.

Medical genetics and epigenetics of telomerase.

Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics.

Extra-acral cutaneous/soft tissue sclerosing perineurioma: an under-recognized entity in the differential of CD34-positive cutaneous neoplasms.

Background: Perineuriomas are an uncommon group of tumors composed of perineurial cells of peripheral nerve sheath lineage. Variants include soft tissue (extraneural), intraneural, sclerosing, reticular and plexiform forms. Sclerosing perineuriomas have been reported to occur almost exclusively on the hands of young men.

Contributions of muscles and passive dynamics to swing initiation over a range of walking speeds.

Stiff-knee gait is a common walking problem in cerebral palsy characterized by insufficient knee flexion during swing. To identify factors that may limit knee flexion in swing, it is necessary to understand how unimpaired subjects successfully coordinate muscles and passive dynamics (gravity and velocity-related forces) to accelerate the knee into flexion during double support, a critical phase just prior to swing that establishes the conditions for achieving sufficient knee flexion during swing. It is also necessary to understand how contributions to swing initiation change with walking speed, since patients with stiff-knee gait often walk slowly.

The telomerase template antagonist GRN163L alters MDA-MB-231 breast cancer cell morphology, inhibits growth, and augments the effects of paclitaxel.

Telomeres are repetitive (TTAGGG)(n) DNA sequences found at the end of chromosomes that protect the ends from recombination, end to end fusions, and recognition as damaged DNA. Telomerase activity can be detected in 85% to 90% of human tumors, which stabilizes telomeres to prevent apoptosis or cellular senescence. Previous reports showed the efficacy of the novel telomerase template antagonist, GRN163L, as a potential anticancer agent.

Predicting outcomes of rectus femoris transfer surgery.

Rectus femoris transfer surgery is a common treatment for stiff knee gait in children with cerebral palsy. Unfortunately, the improvement in knee motion after surgery is inconsistent. There is great interest in understanding the causes of stiff knee gait and determining predictors of improved knee motion after surgery.

Mechanisms of improved knee flexion after rectus femoris transfer surgery.

Rectus femoris transfer is frequently performed to treat stiff-knee gait in subjects with cerebral palsy. In this surgery, the distal tendon is released from the patella and re-attached to one of several sites, such as the sartorius or the iliotibial band. Surgical outcomes vary, and the mechanisms by which the surgery improves knee motion are unclear.

Physician integration is back--and more important than ever.

Current affiliation strategies tend to focus on joint ventures and employment. Careful planning and organizing of a joint venture can mitigate their associated legal, tax, regulatory, and cultural risks. The success of an employment model depends upon a compensation structure that aligns the incentives of physicians and the hospital.