Jaime Rosenberg

Publishing their findings on the earliest treated infants to date, the researchers detailed the outcomes of 2 patients treated with nusinersen in their first week of life after receiving a spinal muscular atrophy (SMA) prenatal diagnosis.

The researchers of this new study wrote that although SMA carrier screening is recommended for all couples, current testing methods primarily focus on copy number loss of SMN1, which can result in false-negative test results due to intragenic mutations and silent carriers falling under the radar.

Combined oral contraceptives (COCs) and, more recently, spironolactone, have been identified as options for adolescent females with acne and hidradenitis suppurativa (HS), although varying levels of data are available supporting their use in these patients.

The study included children and adolescents, and it found decreased vertebral height and depth among both groups of patients compared with healthy controls.

Collecting more than 3 decades’ worth of data, researchers determined that none of the identified blood biomarkers are accurate enough to take the place of current diagnostic approaches, either due to lack of data or lack of specificity.

Based on their findings, the researchers urged for the inclusion of a VRK1 gene analysis in the diagnostic workup of patients who present with predominant calf muscle weakness.

According to the researchers of the study, managing patients with hidradenitis suppurativa holistically may help reduce the burden of their disease.

The results, say the study researchers, offer new insights into patient experiences during spinal muscular atrophy (SMA) clinical trials

The researchers underscored the importance of the patient voice in the field, as some aspects of treatment can only be assessed through the patient.

As more treatments continue to enter the market for multiple myeloma (MM), the cost of associated treatments is expected to continue climbing, with the researchers of the study emphasizing the need for more effective and options to help mitigate costs.

The researchers highlighted that the dermatology field is considered one of the least diverse and most competitive specialties.

The researchers found that socioeconomic status likely drives survival disparities between Hispanic patients and non-Hispanic whites (NHWs). They also found that, while both underserved populations, Hispanics and non-Hispanic blacks have different survival outcomes compared with NHWs.

Drawing on data from more than 2000 patients, the researchers of the retrospective study found that pulmonary function test results were associated with overall survival in non-small cell lung cancer (NSCLC).

The findings from the study indicate that higher genetic risk score for Alzheimer disease (AD) are associated with cognitive declines in patients with Parkinson disease (PD), while higher genetic risk scores for PD signify an increased risk of PD, albeit with slower clinical progression after diagnosis.

Multiple myeloma has historically been considered a chronic disease, even as newer treatments have greatly improved rates of survival for the disease.

The model consists of 3 metabolism-related genes—carbonic anhydrase 12, acyl-CoA synthetase long-chain family member 3, and synaptojanin 2— that the researchers said could potentially be used as biomarkers and treatment targets in the disease.

Citing outbreaks of Clostridioides difficile infection in both America and Europe, the researchers emphasized the need for more effective treatments.

The researchers found that extramedullary disease at diagnosis was significantly more common in patients with bone marrow fibrosis.

The findings come from a novel longitudinal analysis of 400 patients, which the researchers said validates and further underscores the utility of laboratory parameters for the management of hidradenitis suppurativa.

While suggesting that the disorder be included in the differential diagnosis of thrombocytopenia following vaccination, the group emphasized that the benefits of global vaccination against the virus outweigh the risk of this rare complication.

The researchers found that among subclasses, IgG1 expression was most prominent in samples from patients with multiple myeloma, and expression of IgG1 changed significantly before, throughout, and following treatment.

Based on their findings, the researchers of the retrospective study are calling for close evaluation, careful monitoring, and appropriate treatment to mitigate complications and mortality.

In their paper, the researchers detail the first, to their knowledge, case of a potential gain of function phenotype for IL-33 in a human.

According to recent findings, metabolizing disulfiram into diethyldithiocarbamate-copper complex creates a proteasome inhibitor-like treatment that enables the efficient killing of treatment-resistant multiple myeloma (MM) cells.

The group noted that this transformation should affect changes at every level, including at the individual level during patient visits, at the organization level in how clinical encounters are organized, and at the national level in both policies and guidelines for type 1 diabetes (T1D).

Among their sample cohort of 49 patients, the researchers found that scores on the Montreal Cognitive Assessment correlated with measures of both literacy and health literacy.

The new findings come from a 15-year study examining the natural course of C-peptide in children and adolescents with type 1 diabetes (T1D).

Hidradenitis suppurativa (HS) was associated with a variety of comorbid conditions, from psoriasis to hypertension.

The study of constructed αROR1‐CAR T cells showed an increase of PD-L1 expression when exposed to elevated pressure, driving resistance to CAR T cell-mediated cytotoxicity. However, the findings also suggest that adding PD-1/PD-L1 inhibitors to CAR T-cell therapy could help address this.