Rhabdomyosarcoma Surgical Update.

Rhabdomyosarcoma (RMS) tumors arise from mesenchymal tissue and represent half of pediatric sarcomas, which in turn make up 7% of pediatric tumors. Advances in local control therapy of RMS have improved outcomes after surgical resection of the primary tumor, either before or after induction chemotherapy, even in the setting of metastatic disease. The utilization of diagnostic core needle and sentinel node biopsy techniques for lymph node staging are becoming more widely used.

Recessive but damaging alleles of muscle-specific ribosomal protein gene drive neonatal dilated cardiomyopathy.

The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.

Disruptive papers - A novel bibliometric tool not yet ready for primetime in pediatric urology.

Background: Historically, word of mouth, total citation count, H-index, and expert opinion were some of the primary metrics used to identify the most influential papers. This method is subject to significant bias. The disruption score was initially created with the intent of measuring the degree to which a publication introduces a new idea, is repeatedly referenced and may be used as an additional publication evaluation metric.

The Road From Abstract to Publication in Pediatric Urology.

Objective: To identify the current rate of achieving publication and time to publication of abstracts presented at Societies for Pediatric Urology (SPU) meetings.

Methods: Fall SPU poster and podium presentations from 2017-2019 and 2021 were identified and reviewed for authorship (academic position), institutional (presence of pediatric urology fellowship), and publication (date of publication, journal, impact factor, and changes in authorship) details.

Results: Of the 688 abstracts presented at the annual fall SPU meeting, 311 (45.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

How Many Lymph Nodes are Enough in Paratesticular Rhabdomyosarcoma?

Background: Treatment strategies for paratesticular rhabdomyosarcoma (PT RMS) are based on stage, which requires accurate lymph node (LN) evaluation. Previous methodology for determining quantity of LN for negative nodal status is based on LN positivity rates, without accounting for the relationship between LNs or amongst patients. This study aims to quantify the chance of missing involved LNs based on LN yield (LNY) using a previously established methodology in comparison to current recommendations.

Management of an Incidentally Discovered Ovarian Teratoma in an Adolescent Patient.

Mature ovarian teratomas are a benign subset of germ cell tumors (GCT) often diagnosed during reproductive years and are the most common GCT among children and adolescents. Many are found incidentally on unrelated imaging. There are no definitive guidelines on the management of these teratomas, particularly in the pediatric population.

Lymph Node Sampling in Pediatric Renal Tumors: Survey of Current Practices and Impact of Education.

Objective: To characterize how often and to what extent surgeons are willing to perform retroperitoneal node sampling (RPLNS) for a unilateral renal tumor, and whether they would be encouraged to change goal number of LNs after "targeted education" (TE) METHODS: A survey with selected demographic and LN sampling practice questions was distributed to practicing members of the Society of Pediatric Urology (SPU). After answering a 7-question questionnaire, participants were provided with an abstract on the adequacy of LN yield for staging. This served as the TE and then participants were asked to answer a final question on LN sampling goals.

Current surgical approaches to pediatric renal tumors.

Pediatric renal tumors are among the most common pediatric solid malignancies. Surgical resection is a key component in the multidisciplinary therapy for children with kidney tumors. Therefore, it is imperative that surgeons caring for children with renal tumors fully understand the current standards of care in order to provide appropriate surgical expertise within this multimodal framework.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).

Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from biallelic variants in ASCC1. Here, we describe an infant with severe, diffuse hypotonia, congenital contractures, and pulmonary hypoplasia characteristic of SMABF2, with the unique features of cleft palate, small spleen, transverse liver, and pulmonary thromboemboli with chondroid appearance. This infant also had impaired coagulation with diffuse petechiae and ecchymoses which has only been reported in one other infant with AMC.

Influence of Winter Cover Crop Mulch on Arthropods in a Reduced Tillage Cucurbit System.

Winter cover crop mulches can diversify agricultural habitats and provide a range of benefits for crop production and pest management. Here we report the influence of strip tilled winter cover crop mulches on arthropod abundance in organic vegetable plots. Crookneck squash (Cucurbita pepo L.

Bee Community of Commercial Potato Fields in Michigan and Bombus impatiens Visitation to Neonicotinoid-Treated Potato Plants.

We conducted a bee survey in neonicotinoid-treated commercial potato fields using bowl and vane traps in the 2016 growing season. Traps were placed outside the fields, at the field edges, and 10 and 30 m into the fields. We collected 756 bees representing 58 species, with spp.

Upper extremity post-stroke motion quality estimation with decision trees and bagging forests.

Stroke is one of the leading causes of long-term disability. Approximately two thirds of stroke survivors require long-term rehabilitation, which suggests the importance of understanding movement quality in real-world settings. To address this need, we have developed an approach that quantifies physical activity and also evaluates performance quality.

Can Row Spacing Influence Arthropod Communities in Soybean? Implications for Early and Late Planting.

Row spacing in agricultural systems can influence crop yield as well as pest and predator abundances. Soybean (Glycine max L. Merrill) growers in Maryland typically plant in narrow (∼19 cm), medium (∼38 cm), or wide (∼76 cm)-spaced rows, and there is a general lack of information on how these row-spacing schemes influence arthropod abundance and soybean yields.

Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.

Noninvasive prenatal testing (NIPT) using cell-free DNA is being offered to an increasing number of women. Comprehensive pre-test counseling is complicated by emerging information about the benefits and limitations of testing, as well as the potential to detect incidental findings. Genetic counselors are trained to facilitate informed decision-making; however, not all centers have access to these professionals.

NIPT: current utilization and implications for the future of prenatal genetic counseling.

Background: Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation.

Purpose: We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process.

Attracting pollinators and avoiding herbivores: insects influence plant traits within and across years.

Perennial plants interact with herbivores and pollinators across multiple growing seasons, and thus may respond to herbivores and pollinators both within and across years. Joint effects of herbivores and pollinators influence plant traits, but while some of the potential interactions among herbivory, pollination, plant size, and plant reproductive traits have been well studied, others are poorly understood. This is particularly true for perennial plants where effects of herbivores and pollinators may manifest across years.

Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling.

Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI) associated with genetic testing and counseling.

Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula.

Functional performance testing in participants with functional ankle instability and in a healthy control group.

Context: Functional ankle instability (FAI) affects a large part of the population. Inconsistent findings have been reported regarding the existence of functional performance deficits in individuals with FAI.

Objective: To examine functional performance in participants with FAI compared with participants in a control group during 2 hopping tests.