Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.

Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.

Application of RNA-Based Next-Generation Sequencing Fusion Assay for Hematological Malignancies.

Recurrent fusions drive the pathogenesis of many hematological malignancies. Compared to routine cytogenetic/fluorescence in situ hybridization (FISH) studies, the RNA-based next-generation sequencing (NGS) fusion assay enables the identification of both known and novel fusions. In many cases, these recurrent fusions are crucial for diagnosis and are associated with prognosis, relapse prediction, and therapeutic options.

Occlusal acuity and bite force in young adults.

Occlusal tactile acuity (OTA) and bite force are essential components of the sensorimotor control of oral behaviors. While these variables have been studied independently, it has not yet been revealed whether compressive force impacts the occlusal perception mediated by the mechanoreceptive afferents in the periodontal ligament. The present study examined the effect of repetition and maximum bite force on OTA by testing nine aluminum foils of different thicknesses together with a sham test with no foil, three times each, in randomized order in 36 healthy individuals.

Economic burden of breast cancer in India, 2000-2021 and forecast to 2030.

Background Breast cancer represents a significant public health concern in India, accounting for 28% of all cancer diagnoses and imposing a substantial economic burden. This study introduces a novel approach to forecasting the number of breast cancer cases (based on prevalence rates) and estimating the associated economic impact in India using the autoregressive integrated moving average (ARIMA) model. Methods Data on the prevalence of breast cancer in India from 2000 to 2021 were obtained from the Global Burden of Disease (GBD) database.

Multi-omics approaches reveal that diffuse midline gliomas present altered DNA replication and are susceptible to replication stress therapy.

Background: The fatal diffuse midline gliomas (DMG) are characterized by an undruggable H3K27M mutation in H3.1 or H3.3.