Diagnostic challenges of renal medullary carcinoma and the role for cytologic assessment: Case report and literature review.

BACKGROUND: Renal medullary carcinoma (RMC) is a diagnostically challenging, aggressive primary renal malignancy associated with abysmal survival. Delays in diagnosis contribute to most patients having diffusely metastatic disease at the time of initial presentation. METHODS: We present the case of a 13-year-old African American male with sickle cell trait who presented with a renal mass and hematuria. Evaluation included imaging, fluid cultures, and cytologic assessment. RESULTS: Patient was diagnosed with RMC based on cytologic assessment of sub-centimeter fluid collections aspirated from the left kidney at the time of cortical biopsy for suspected renal mass. The additional fluid aspiration in conjunction with renal biopsy was an atypical but crucial step in early diagnosis. CONCLUSION: Cytomorphologic evaluation of fluid biospecimens is not currently part of the standard work-up for patients with renal masses but, when available, can provide crucial information that reduces time to diagnosis. Prompt symptom recognition and treatment initiation may improve patient outcomes.

A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder resulting in progressive muscle weakness. In December 2016, the U.S. Food and Drug Administration approved the first treatment for SMA, a drug named nusinersen (Spinraza) that is administered intrathecally. However many children with SMA have neuromuscular scoliosis or spinal instrumentation resulting in challenging intrathecal access. Therefore alternative routes must be considered in these complex patients. OBJECTIVE: To investigate routes of drug access, we reviewed our institutional experience of administering intrathecal nusinersen in all children with spinal muscular atrophy regardless of spinal anatomy or instrumentation. MATERIALS AND METHODS: We reviewed children with SMA who were referred for intrathecal nusinersen injections from March to December 2017 at our institution. In select children with spinal hardware, spinal imaging was requested to facilitate pre-procedure planning. Standard equipment for intrathecal injections was utilized. All children were followed up by their referring neurologist. RESULTS: A total of 104 intrathecal nusinersen injections were performed in 26 children with 100% technical success. Sixty procedures were performed without pre-procedural imaging and via standard interspinous technique. The remaining 44 procedures were performed in 11 complex (i.e. neuromuscular scoliosis or spinal instrumentation) patients requiring pre-procedural imaging for planning purposes. Nineteen of the 44 complex procedures were performed via standard interspinous technique from L2 to S1. Twenty-two of the 44 complex procedures were performed using a neural-foraminal approach from L3 to L5. Three of the 44 complex procedures were performed via cervical puncture technique. There were no immediate or long-term complications but there was one child with short-term complications of meningismus and back pain at the injection site. CONCLUSION: Although we achieved 100% technical success in intrathecal nusinersen administration, our practices evolved during the course of this study. As a result of our early experience we developed an algorithm to assist in promoting safe and effective nusinersen administration in children with spinal muscular atrophy regardless of SMA type, abnormal spinal anatomy and complex spinal instrumentation.

MRI depiction of fetal brain abnormalities.

Intracranial abnormalities are commonly suspected findings on antenatal ultrasound that require evaluation by magnetic resonance imaging. This review depicts multiple abnormalities imaged as a means to guide clinicians in proper diagnosis.

Internet search trends analysis tools can provide real-time data on kidney stone disease in the United States.

OBJECTIVES: To evaluate the utility of using Internet search trends data to estimate kidney stone occurrence and understand the priorities of patients with kidney stones. Internet search trends data represent a unique resource for monitoring population self-reported illness and health information-seeking behavior. METHODS: The Google Insights for Search analysis tool was used to study searches related to kidney stones, with each search term returning a search volume index (SVI) according to the search frequency relative to the total search volume. SVIs for the term, "kidney stones," were compiled by location and time parameters and compared with the published weather and stone prevalence data. Linear regression analysis was performed to determine the association of the search interest score with known epidemiologic variations in kidney stone disease, including latitude, temperature, season, and state. The frequency of the related search terms was categorized by theme and qualitatively analyzed. RESULTS: The SVI correlated significantly with established kidney stone epidemiologic predictors. The SVI correlated with the state latitude (R-squared=0.25; P<.001), the state mean annual temperature (R-squared=0.24; P<.001), and state combined sex prevalence (R-squared=0.25; P<.001). Female prevalence correlated more strongly than did male prevalence (R-squared=0.37; P<.001, and R-squared=0.17; P=.003, respectively). The national SVI correlated strongly with the average U.S. temperature by month (R-squared=0.54; P=.007). The search term ranking suggested that Internet users are most interested in the diagnosis, followed by etiology, infections, and treatment. CONCLUSIONS: Geographic and temporal variability in kidney stone disease appear to be accurately reflected in Internet search trends data. Internet search trends data might have broader applications for epidemiologic and urologic research.