Nephrostomy tubes for management of a bladder occupying embryonal rhabdomyosarcoma in a 2-year-old: A case report and review of the literature.

Local control approaches for bladder/prostate rhabdomyosarcoma (RMS) may include surgery and/or radiation after neoadjuvant chemotherapy, with goal of maximizing long term function. We report a case of bladder RMS presenting with acute renal complications in a 2-year-old female necessitating bilateral nephrostomy tube placement before administration of chemotherapy. As local control for RMS is delayed until after 12 weeks of neoadjuvant chemotherapy has been given, management of medical complications prior to surgery is not protocolized, making case reports and discussion helpful to future patients and providers.

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Chromosomal microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism array, are widely applied in the diagnostic evaluation for both constitutional and neoplastic disorders. In a constitutional setting, this technology is accepted as the first-tier test for the evaluation of chromosomal imbalances associated with intellectual disability, autism, and/or multiple congenital anomalies. Furthermore, chromosomal microarray analysis is recommended for patients undergoing invasive prenatal diagnosis with one or more major fetal structural abnormalities identified by ultrasonographic examination, and in the evaluation of intrauterine fetal demise or stillbirth when further cytogenetic analysis is desired.

A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL) is an heterogenous cancer that can have profound differences in survival outcomes. Molecular profiling has allowed for the identification of DLBCL subclasses, and together with clinical prognostic factors, such as the international prognostic index, have improved clinical care and survival. Despite these advances, a gene signature that is associated with overall survival (OS) and is reproducible across different DLBCL studies could better classify risk and predict OS.

Targeting Natural Killer Cells for Improved Immunity and Control of the Adaptive Immune Response.

Natural killer (NK) cells are critical for targeting and killing tumor, virus-infected and stressed cells as a member of the innate immune system. Recently, NK cells have also emerged as key regulators of adaptive immunity and have become a prominent therapeutic target for cancer immunotherapy and infection control. NK cells display a diverse array of phenotypes and function.

The Limited Usefulness of Ultrasound Surveillance after Radical and Partial Nephrectomy for Renal Cell Carcinoma.

Introduction: We determined the usefulness of ultrasound compared to cross-sectional imaging in the detection of intra-abdominal recurrences after radical or partial nephrectomy for localized renal cell carcinoma.

Methods: We performed a retrospective review of 800 patients with clinically localized renal cell carcinoma who had undergone radical or partial nephrectomy between 2008 and 2015. Patients had at minimum 1 year of followup at our institution, at least 1 ultrasound during surveillance and no metastases at time of surgery.

Eighteen-Year Review of Resident Performance on the American Urological Association In-Service Examination.

Objective: To analyze national performance trends of urology residents on the American Urological Association In-Service Examination (ISE) over the last 18 years.

Methods: Trends in the national averages on the in-service examination for each year of residency training were collected and analyzed between the years 2000 and 2017. Mean and standard error were calculated for examination performance for each year of residency.

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).

The detection of acquired copy-number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) in neoplastic disorders by chromosomal microarray analysis (CMA) has significantly increased over the past few years with respect to both the number of laboratories utilizing this technology and the broader number of tumor types being assayed. This highlights the importance of standardizing the interpretation and reporting of acquired variants among laboratories. To address this need, a clinical laboratory-focused workgroup was established to draft recommendations for the interpretation and reporting of acquired CNAs and CN-LOH in neoplastic disorders.

Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.

These ACMG standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results.

Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.

These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results.

Margin comments in dermatopathology reports on dysplastic nevi influence re-excision rates.

Background: Dermatopathology reports influence clinical management, but it is not clear to what extent comments on margin involvement of histopathologically dysplastic nevi (HDN) influence decisions about re-excision or complete excision.

Objective: We sought to determine if standardized margin comments (MCs) on HDN influence re-excision rates.

Methods: By reviewing medical records, we compared re-excision rates of HDN reported with (May 2011 to December 2012) and without (January 2007 to December 2010) standardized MCs, and surveyed clinicians to assess perceptions of the impact of MCs on their management of HDN.

Molecular targeted therapies in metastatic melanoma.

The advent of personalized medicine has ushered in a new era for cancer therapy with a significant impact on the management of advanced melanoma. Molecular targeted therapies have shown promise in the management of various malignancies, including melanoma, with lower toxicity profiles and better overall survival as compared with conventional therapy. The discovery of BRAF mutations in melanoma led to the development of BRAF inhibitors for the treatment of advanced melanoma.

Rabbit antithymocyte globulin induction therapy in adult renal transplantation.

Rabbit antithymocyte globulin (rATG) and horse antithymocyte globulin (horse ATG) are the polyclonal antithymocyte agents available for use in solid organ transplantation in the United States. Horse ATG is indicated for induction immunosuppression and for treatment of acute rejection episodes after kidney transplantation; rATG is indicated for treatment of acute rejection only. However, rATG is commonly used in clinical practice as an induction immunosuppressive agent, instigating many questions regarding appropriate dosing, tolerability, safety, and efficacy.

Selecting a Selective Serotonin Reuptake Inhibitor: Clinically Important Distinguishing Features.

Selective serotonin reuptake inhibitors (SSRIs) are widely prescribed to treat depression. Although these drugs presumably have the same mechanism of action, they vary in several clinically important ways, including how long they remain in the body and the extent to which they interfere with the metabolism of other medications. This article reviews the pharmacologic differences among SSRIs and how these differences may affect various aspects of treatment, such as dosing, administration, and discontinuation.

A cardiologist's perspective on evolving concepts in the management of congestive heart failure.

The conceptual framework for treatment of congestive heart failure has changed dramatically in the past 30 years. The 1950s and 1960s were characterized by manipulation of the left ventricular function curve by digitalis and diuretics. The 1970s focused on relief of symptoms by afterload reduction with vasodilators.

Anesthetic blocks for loop electrosurgical excision procedure.

Background: Various types of anesthetic blocks have been used to prevent pain during ambulatory gynecologic surgery. The purpose of this study was to compare the pain and cramping perceived by patients during the loop electrosurgical excision procedure when intramucosal or distal paracervical blocks were used.

Methods: Seventy-seven women consented to participate in the prospective clinical trial.

Tracheal agenesis with diaphragmatic hernia.

A case is presented of a newborn infant with Type III tracheal agenesis and a right diaphragmatic hernia which represents the first report of this occurrence. Associated multi-organ anomalies and possible embryologic relationships are discussed.

An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar anomalad).

Oculoauriculovertebral dysplasia (OAV) is a heterogeneous field defect involving the first and second branchial arches and is characterized by microtia, mandibular hypoplasia, vertebral anomalies, and epibulbar dermoids. We report a case of OAV with pulmonary manifestations and review the literature regarding this association. Anomalies identified were previously undescribed tracheal stenosis, along with tracheoesophageal cleft and unilateral pulmonary agenesis.

The significance of gallbladder trauma.

This study reviewed patients with gallbladder trauma over a 14-year period treated at Truman Medical Center to determine the complications, associated injuries, and mortality rate. Fourteen patients had gallbladder trauma, 12 penetrating and two blunt. All patients underwent cholecystectomy and 10 had 3 or more associated injuries that required operative care.

Neurodevelopmental follow-up of infants with birthweight less than 801 grams with intracranial hemorrhage.

The incidence and severity of intracranial hemorrhage (ICH) were determined in a group of surviving infants with birthweights less than 801 g born during the period of 1983 through 1985. Neurodevelopmental status was assessed at 2 and 3 years of age to determine the relationship between neonatal ICH and later outcome in these infants. Forty-four of 77 neonatal survivors (57%) had ICH.