Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Climate change impacts on maternal health and pregnancy outcomes in Africa.

The review examines how climate change adversely affects maternal health and pregnancy outcomes in Africa, a region particularly vulnerable to climate-related disasters. It highlights the increased incidence of tropical and waterborne illnesses due to climate change, disproportionately impacting expectant mothers. The study thoroughly evaluates the effects of extreme weather events like heatwaves and floods on maternal health, both directly and indirectly.

Clinical and Dermoscopic Comparison of the Efficacy and Safety of 5% Fluorouracil Topical Cream and 1% Niacinamide Topical Gel in the Treatment of Actinic Keratosis: A Randomized Controlled Trial.

Background: Actinic keratosis (AK) is a common skin condition treated by dermatologists; however, the effectiveness, superiority, and potential side effects of current treatment protocols are still debated.

Aim: This study aimed to compare the effectiveness and safety of 5% fluorouracil topical cream and 1% niacinamide topical gel in patients with AK.

Methods: In a randomized clinical trial, 26 patients with 95 AK lesions were assigned to receive either 5% fluorouracil topical cream twice daily for 4 weeks or 1% niacinamide topical gel twice daily for 3 months.

Effects of the two-pore potassium channel subunit Task5 on neuronal function and signal processing in the auditory brainstem.

Processing of auditory signals critically depends on the neuron's ability to fire brief, precisely timed action potentials (APs) at high frequencies and high fidelity for prolonged times. This requires the expression of specialized sets of ion channels to quickly repolarize neurons, prevent aberrant AP firing and tightly regulate neuronal excitability. Although critically important, the regulation of neuronal excitability has received little attention in the auditory system.

Associations between BCL-2 expression and different histopathological prognostic factors in different molecular subtypes of invasive breast carcinoma of no special type.

Background: Breast cancer is heterogeneous and the existing prognostic classifiers are limited in accuracy, leading to the unnecessary treatment of numerous women. B-cell lymphoma 2 (BCL-2), an anti-apoptotic protein, has been proposed as a marker of poor prognosis, associated with resistance to therapy in most tumor types expressing BCL-2. In breast cancer, however, BCL-2 expression has been reported to be a favorable prognostic factor.