Determining Social Needs for Pediatric Patients in a Sioux Falls Pediatric Clinic.

INTRODUCTION: Social adversities such as financial insecurity, poor access to healthcare, shortage of food, and housing concerns can significantly impact health, especially for pediatric patients. The American Academy of Pediatrics recommends that pediatricians address social risks and provide interventions. This is a study where a social needs assessment screening tool was implemented at a general pediatrics clinic in Sioux Falls, South Dakota, to determine the needs of patients in the community with secondary outcomes evaluating ethnic differences in social needs. METHODS: Caregivers of pediatric patients being seen for a well-child examination were asked to participate by completing a social needs assessment form. If social needs were indicated, the clinic's health coach or the integrative health therapist contacted families to address the social need with resources available in the community. RESULTS: Caregivers completed 240 forms. Sixty-eight (31 percent) of caregivers had at least one need, house utilities being the most common followed by childcare. Total number of needs was significantly affected by race and insurance status with more needs identified in American Indian and Black ethnicities and those with public insurance. CONCLUSIONS: This was a successful implementation of a social needs assessment tool at a General Pediatric clinic. Further development and implementation of screening tools is necessary to continue to determine social needs of patients.

High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.

PURPOSE: Compared to breast cancer risk genes such as BRCA2, ATM, PALB2, and NBN, no defined phenotype is currently associated with biallelic pathogenic variants (PVs) in CHEK2. This study compared the prevalence of breast and other cancers in women with monoallelic and biallelic CHEK2 PVs. METHODS: CHEK2 PV carriers were identified through commercial hereditary cancer panel testing (09/2013-07/2019). We compared cancer histories of 6473 monoallelic carriers to 31 biallelic carriers. Breast cancer risks were estimated using multivariate logistic regression and are reported as odds ratios (OR) with 95% confidence intervals (CI). RESULTS: Breast cancer frequency was higher among biallelic CHEK2 PV carriers (80.6%, 25/31) than monoallelic carriers (41.2%, 2668/6473; p < 0.0001). Biallelic carriers were more likely to be diagnosed at or before age 50 (61.3%, 19/31) and to have a second breast cancer diagnosis (22.6%, 7/31) compared to monoallelic carriers (23.9%, 1548/6473; p < 0.0001 and 8.1%, 523/6473; p = 0.0107, respectively). Proportionally more biallelic carriers also had any cancer diagnosis and > 1 primary diagnosis. Compared to women with no PVs, biallelic PV carriers had a higher risk of developing ductal invasive breast cancer (OR 8.69, 95% CI 3.69-20.47) and ductal carcinoma in situ (OR 4.98, 95% CI 2.00-12.35) than monoallelic carriers (OR 2.02, 95% CI 1.90-2.15 and OR 1.82, 95% CI 1.66-2.00, respectively). CONCLUSIONS: These data suggest that biallelic CHEK2 PV carriers have a higher risk for breast cancer, are more likely to be diagnosed younger, and to have multiple primary breast cancers compared to monoallelic carriers. Biallelic carriers also appear to have a higher risk of cancer overall. Therefore, more aggressive management may be appropriate for women with biallelic PVs in CHEK2 compared with current recommendations for monoallelic carriers.

Respiratory pathogen testing.

Respiratory tract infections (RTIs) are common in the pediatric population and contribute to a large portion of health care expenditure. A variety of modalities currently exist for testing for these pathogens in patients and as technology advances new, more efficient and specific tests are becoming available. This article reviews the most common causes of respiratory tract infections and the available testing modalities.

Spontaneous pneumomediastinum with subcutaneous emphysema: report of two pediatric cases.

We present two children diagnosed with spontaneous pneumomediastinum. The first case is a 9-year-old male who developed neck pain with a history of poorly controlled asthma and recently diagnosed right middle lobe pneumonia. The second case is a 14-year-old male who developed chest pain with a history of cough and congestion for four days. We describe their clinical courses and discuss briefly the epidemiology, pathophysiology, diagnosis, and treatment of spontaneous pneumomediastinum. Though relatively rare in occurrence, we present these cases of spontaneous pneumomediastinum to demonstrate the variation in presentation.

Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers.

Pathogenic variants (PVs) in ATM are relatively common, but the scope and magnitude of risk remains uncertain. This study aimed to estimate ATM PV cancer risks independent of family cancer history. This analysis included patients referred for hereditary cancer testing with a multi-gene panel (N = 627,742). Cancer risks for ATM PV carriers (N = 4,607) were adjusted for family history using multivariable logistic regression and reported as ORs with 95% confidence intervals (CIs). Subanalyses of the c.7271T>G missense PV were conducted. Moderate-to-high risks for pancreatic (OR, 4.21; 95% CI, 3.24-5.47), prostate (OR, 2.58; 95% CI, 1.93-3.44), gastric (OR, 2.97; 95% CI, 1.66-5.31), and invasive ductal breast (OR, 2.03; 95% CI, 1.89-2.19) cancers were estimated for ATM PV carriers. Notably, c.7271T>G was associated with higher invasive ductal breast cancer risk (OR, 3.76; 95% CI, 2.76-5.12) than other missense and truncating ATM PVs. Low-to-moderate risks were seen for ductal carcinoma in situ (OR, 1.80; 95% CI, 1.61-2.02), male breast cancer (OR, 1.72; 95% CI, 1.08-2.75), ovarian cancer (OR, 1.57; 95% CI, 1.35-1.83), colorectal cancer (OR, 1.49; 95% CI, 1.24-1.79), and melanoma (OR, 1.46; 95% CI, 1.18-1.81). ATM PVs are associated with multiple cancer risks and, while professional society guidelines support that carriers are eligible for increased breast and pancreatic cancer screening, increased screening for prostate and gastric cancer may also be warranted. c.7271T>G is associated with high risk for breast cancer, with a 3- to 4-fold risk increase that supports consideration of strategies for prevention and/or early detection. PREVENTION RELEVANCE: This study estimated risks for multiple cancers associated with ATM pathogenic variants independent of family history. These results indicate that some common variants may be associated with higher breast cancer risks than previously appreciated and increased screening for prostate and gastric cancer may be warranted for carriers of ATM pathogenic variants.

Endogenous methicillin-resistant Staphylococcus aureus endophthalmitis after leg trauma.

We present a case of endogenous endophthalmitis in a 13-year-old boy with methicillin-resistant Staphylococcus aureus sepsis. The patient underwent magnetic resonance imaging of the brain after intermittent anisocoria was noted on examination, leading to a diagnosis of endophthalmitis with a chorodial abscess.

Effectiveness of intradiscal electrothermal therapy in increasing function and reducing chronic low back pain in selected patients.

Intradiscal electrothermal therapy (IDET) is a percutaneous intervention used to treat pain from internal disc disruption. We reviewed the patients who underwent this procedure in our practice. We found, in an appropriately selected group of patients, an increase in sitting and standing tolerances and a decrease in pain levels. After completion of post-IDET rehabilitation, 66% of the patients returned to work. There were no complications.