Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.

Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool for many RD diagnoses, there is room to further improve the diagnostic odyssey of many RD patients. One recognizable intervention lies in increasing equitable access to genomic testing.

Factors affecting retirement and workforce attrition in neurosurgery: results of a Council of State Neurosurgical Societies national survey.

Objective: By 2030, the US will not have enough neurosurgeons to meet the clinical needs of its citizens. Replacement of neurosurgeons due to attrition can take more than a decade, given the time-intensive training process. To identify potential workforce retention targets, the authors sought to identify factors that might impact neurosurgeons' retirement considerations.

Impact of low versus negative estrogen/progesterone receptor status on clinico-pathologic characteristics and survival outcomes in HER2-negative breast cancer.

Triple-negative breast cancer (TNBC) is classically defined by estrogen receptor (ER) and progesterone receptor (PR) immunohistochemistry expression <1% and absence of HER2 amplification/overexpression. HER2-negative breast cancer with low ER/PR expression (1-10%) has a gene expression profile similar to TNBC; however, real-world treatment patterns, chemotherapy response, endocrine therapy benefit, and survival outcomes for the Low-ER group are not well known. 516 patients with stage I-III HER2-negative breast cancer and ER/PR expression ≤10% who were enrolled in a multisite prospective registry between 2011 and 2019 were categorized on the basis of ER/PR expression.

ACR Appropriateness Criteria® Nontraumatic Chest Wall Pain.

Chest pain is a common reason that patients may present for evaluation in both ambulatory and emergency department settings, and is often of musculoskeletal origin in the former. Chest wall syndrome collectively describes the various entities that can contribute to chest wall pain of musculoskeletal origin and may affect any chest wall structure. Various imaging modalities may be employed for the diagnosis of nontraumatic chest wall conditions, each with variable utility depending on the clinical scenario.

Randomized Phase II Trial of Anthracycline-free and Anthracycline-containing Neoadjuvant Carboplatin Chemotherapy Regimens in Stage I-III Triple-negative Breast Cancer (NeoSTOP).

Purpose: Addition of carboplatin (Cb) to anthracycline chemotherapy improves pathologic complete response (pCR), and carboplatin plus taxane regimens also yield encouraging pCR rates in triple-negative breast cancer (TNBC). Aim of the NeoSTOP multisite randomized phase II trial was to assess efficacy of anthracycline-free and anthracycline-containing neoadjuvant carboplatin regimens.

Patients And Methods: Patients aged ≥18 years with stage I-III TNBC were randomized (1:1) to receive either paclitaxel (P) weekly × 12 plus carboplatin AUC6 every 21 days × 4 followed by doxorubicin/cyclophosphamide (AC) every 14 days × 4 (CbP → AC, arm A), or carboplatin AUC6 + docetaxel (D) every 21 days × 6 (CbD, arm B).

An online tumor board with international neurosurgical collaboration guides surgical decision-making in Western Kenya.

Telecollaboration via web-based platforms has emerged as a tool to relieve constraints on the establishment of tumor boards for neurosurgical oncology. Challenging tumor cases arising in low- and middle-income countries may benefit from the use of such models. The case of a 5-year-old boy presenting in Western Kenya with a challenging tumor and symptomatic hydrocephalus was presented on a novel web platform to a multi-national audience of neurosurgeons.

Acute Intoxication following Dimethyltryptamine Ingestion.

Ayahuasca is a hallucinogenic tea that is most commonly comprised of the vine alone or in combination with other plants such as . This concoction results in an orally active form of dimethyltryptamine (DMT), a hallucinogenic amine. Despite use in South America as a medicinal agent and component in religious ceremonies, interest in its recreational use and spiritual effects has led to increased use in the United States.

Efficacy of a vision-screening tool for birth to 3 years early intervention programs.

Purpose: To validate a screening tool used to detect unsuspected visual pathway pathology in preschool children under 3 years of age with developmental disabilities enrolled in an early intervention program using guidelines from the Kansas Department of Health and Environment (KDHE).

Methods: The records of 300 consecutive children screened at a birth to 3 early intervention program from 2011 to 2014 were reviewed retrospectively. Inclusion criteria were documented KDHE vision screening examinations performed by trained early interventionist and full ophthalmic evaluations by a general ophthalmologist.

Lumbar injuries of the pediatric population.

Primary musculoskeletal etiologies, such as stress fractures, strains, facet arthropathy, and sacroiliac joint dysfunction, are more common causes of pediatric pain than systemic diseases, both in the office setting and the emergency room. Systemic features, young age, and atypical pain should clue physicians to causes other than a primary musculoskeletal cause and prompt an intensive search for other conditions.