Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

Background: TP53 alterations are common in certain pediatric cancers, making identification of putative germline variants through tumor genomic profiling crucial for disease management.

Methods: We analyzed TP53 alterations in 3123 tumors from 2788 pediatric patients sequenced using tumor-only or tumor-normal paired panels. Germline confirmatory testing was performed when indicated.

A Hazard-Based Framework for Identifying Safer Alternatives to Classes of Chemicals: A Case Study on Phthalates in Consumer Products.

Background: Humans are exposed to hazardous chemicals found in consumer products. In 2019, the Pollution Prevention for Healthy People and Puget Sound Act was passed in Washington State. This law is meant to reduce hazardous chemicals in consumer products and protect human health and the environment.

The Potential of NIR Spectroscopy and Chemometrics to Discriminate Roast Degrees and Predict Volatiles in Coffee.

This study aimed to establish a rapid and practical method for monitoring and predicting volatile compounds during coffee roasting using near-infrared (NIR) spectroscopy coupled with chemometrics. Washed Arabica coffee beans from Ethiopia and Congo were roasted to industry-validated light, medium, and dark degrees. Concurrent analysis of the samples was performed using gas chromatography-mass spectrometry (GC-MS) and NIR spectroscopy, generating datasets for partial least squares (PLS) regression analysis.

Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders that account for ∼30% of pediatric cases of bone marrow failure and are often associated with developmental abnormalities and cancer predisposition. This article reports the laboratory validation and clinical utility of a large-scale, custom-designed next-generation sequencing panel, Children's Hospital of Philadelphia (CHOP) IBMFS panel, for the diagnosis of IBMFS in a cohort of pediatric patients. This panel demonstrated excellent analytic accuracy, with 100% sensitivity, ≥99.

Upper Limb Strength and Performance Deficits after Glenohumeral Joint Stabilization Surgery in Contact and Collision Athletes.

Purpose: The primary aim was to identify and quantify differences in interlimb asymmetry magnitudes across a battery of upper extremity strength and performance tests at 4 and 6 months after glenohumeral joint stabilization surgery shoulder stabilization in contact and collision athletes compared with an un-injured group. A secondary aim was to investigate if identified asymmetry magnitudes changed from 4 to 6 months after glenohumeral joint stabilization surgery. The third aim was to explore associations within the different performance and strength variables.

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

Objective: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands.

Study Design: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands.

Role of Perceived Physical and Mental Fatigability Severity on Prospective, Recurrent, and Injurious Fall Risk in Older Men.

Background: Falls occur annually in 25% of adults aged ≥65 years. Fall-related injuries are increasing, highlighting the need to identify modifiable risk factors.

Methods: Role of fatigability on prospective, recurrent, and injurious fall risk was examined in 1 740 men aged 77-101 years in the Osteoporotic Fractures in Men Study.

Angle-Specific Isokinetic Shoulder Rotational Strength Can be Reliably Assessed in Collision and Contact Athletes.

An increased understanding of rotational strength as a potential prognostic factor for injury in contact and collision athletes may be important in planning return to sport. The aim of this study was to (1) determine the test-retest reliability of clinically relevant, angle-specific rotational and peak torque measurements in a cohort of uninjured collision and contact athletes; (2) develop a normal descriptive profile of angle-specific rotational torque measurements in the same cohort; and (3) examine the effects of direction and joint angle on shoulder rotational strength interlimb asymmetries. Twenty-three collision and contact athletes were recruited for the interday reliability substudy and 47 athletes were recruited for the remaining substudies.

A novel tandem duplication in a child with Li-Fraumeni syndrome.

Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including soft tissue sarcomas, osteosarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Heterozygous germline pathogenic variants in the tumor suppressor gene are the known causal genetic defect for LFS.

Determinants of obstetric fistula in Afghanistan: An analysis of the Demographic and Health Survey 2015.

Objective: To examine the reproductive, sociodemographic, and geographic factors associated with obstetric fistula, which is a significant but neglected health problem faced by women in low-income countries, in women in Afghanistan, where epidemiologic studies examining the determinants of obstetric fistula are currently lacking.

Methods: This cross-sectional study used data from a nationally representative sample of women collected through the Afghanistan Demographic and Health Survey 2015. Descriptive and binary and multivariable logistic regression analyses were performed to estimate the prevalence of obstetric fistula and describe and assess the risk factors associated with the condition.

Biomechanical upper-extremity performance tests and isokinetic shoulder strength in collision and contact athletes.

The aim of this study was threefold (1) to assess the reliability of three upper-extremity performance tests: a countermovement push up, press jump and drop box land, performed on a set of dual-force plates (2) to examine whether there was an association between isokinetic dynamometry and the performance tests in a non-injured cohort of collision/contact athletes and (3) to establish a normal descriptive profile of the vertical ground reaction forces from the performance tests, in a cohort of contact/collision athletes. The study was split into two sub-sections; the inter-day reliability of three upper-extremity performance tests (n = 21) and a descriptive, correlation study investigating the relationship between isokinetic dynamometry and performance tests metrics (n = 39). We used intraclass correlation coefficients (absolute agreement, 2-way mixed-effects model) with 95% confidence intervals to quantify inter-day reliability of all variables.

Outcome Measures After Shoulder Stabilization in the Athletic Population: A Systematic Review of Clinical and Patient-Reported Metrics.

Background: Athletic endeavor can require the "athletic shoulder" to tolerate significant load through supraphysiological range and often under considerable repetition. Outcome measures are valuable when determining an athlete's safe return to sport. Few data are available to guide a clinician's choice from the variety of measures available.

Prospective clinical trial of robotic sentinel lymph node assessment with isosulfane blue (ISB) and indocyanine green (ICG) in endometrial cancer and the impact of ultrastaging (NCT01818739).

Objectives: To assess the performance sentinel lymph node (SLN) biopsy and effect of ultrastaging in clinically early stage endometrial cancer.

Methods: Patients with endometrial cancer prospectively enrolled after informed consent was obtained. The cervix was injected superficially with 1 mL of ISB and 1 mL of ICG (diluted 1:25) at 3 and 9 o'clock each.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with "corner fractures" (SMD-CF). The most striking feature characterizing SMD-CF is irregularly shaped metaphyses giving the appearance of "corner fractures". An array of secondary features, including developmental coxa vara, ovoid vertebral bodies and severe scoliosis, may also be present.

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited in an unusual X-linked dominant pattern in which heterozygous females are affected, while hemizygous males are typically unaffected, although they pass on the pathogenic variant to each affected daughter. PCDH19-related disorder is known to cause early-onset epilepsy in females characterized by seizure clusters exacerbated by fever and in most cases, onset is within the first year of life.

Radioiodine treatment for graves' disease: a 10-year Australian cohort study.

Background: Radioactive iodine (I) is a common definitive treatment for Graves' Disease. Potential complications include worsening, or new development of Graves' eye disease and development of a radiation thyroiditis. The purpose of the present study was to assess outcomes of patients treated with I in an Australian tertiary centre over 10 years.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported.

Genetics and the metabolic syndrome.

Originally coined as "syndrome X" in 1988 by Gerald Reaven (1928), the metabolic syndrome (MetS) encompasses a constellation of risk factors, the coincidence of which amounts to an increased cardiovascular and diabetic risk. Rising numbers of dermatoses are being recognized as cutaneous markers of MetS. Dermatologists should look beyond treating the cutaneous condition and quantify the associated increase in cardiovascular risk.

Correction to: Quantifying and understanding carbon storage and sequestration within the Eastern Arc Mountains of Tanzania, a tropical biodiversity hotspot.

Upon publication of the original article [1], the authors noticed that the figure labelling for Fig. 4 in the online version was processed wrong. The top left panel should be panel a, with the panels to its right being b and c.

Land cover change and carbon emissions over 100 years in an African biodiversity hotspot.

Agricultural expansion has resulted in both land use and land cover change (LULCC) across the tropics. However, the spatial and temporal patterns of such change and their resulting impacts are poorly understood, particularly for the presatellite era. Here, we quantify the LULCC history across the 33.