Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the SDHA gene, which encodes a key component of mitochondrial complex II. Mitochondrial respiratory chain activities and muscle biopsy confirmed impaired oxidative metabolism.

Deep-learning-ready RGB-depth images of seedling development.

In the era of machine learning-driven plant imaging, the production of annotated datasets is a very important contribution. In this data paper, a unique annotated dataset of seedling emergence kinetics is proposed. It is composed of almost 70,000 RGB-depth frames and more than 700,000 plant annotations.

Surgical management of benign tumors of the parotid gland: the advantages of extracapsular dissection compared to traditional surgical techniques.

Introduction: Salivary gland tumors represent only 3%-6% of all head and neck neoplasms, and approximately 70% of these tumors are located in the parotid gland. Most of these tumors are found in the more abundant superficial portion of the parotid gland, lateral to the facial nerve (FN). For many years, the location of the facial nerve between the superficial and deep segments of the parotid gland hindered adequate tumor extirpation.

Painful diabetic neuropathy is associated with accelerated epigenetic aging.

About one out of two diabetic patients develop diabetic neuropathy (DN), of these 20% experience neuropathic pain (NP) leading to individual, social, and health-economic burden. Risk factors for NP are largely unknown; however, premature aging was recently associated with several chronic pain disorders. DNA methylation-based biological age (DNAm) is associated with disease risk, morbidity, and mortality in different clinical settings.

Long-Term Eosinophil Depletion: A Real-World Perspective on the Safety and Durability of Benralizumab Treatment in Severe Eosinophilic Asthma.

Benralizumab is an anti-IL-5 receptor alpha monoclonal antibody that induces the near-complete depletion of eosinophils. This study aimed to evaluate the long-term safety and effectiveness of benralizumab in patients with severe eosinophilic asthma (SEA) over an extended 48-month follow-up period, offering one of the longest real-world perspectives available. This was a single-arm, retrospective, observational, multicenter study involving 123 SEA patients treated with benralizumab at a dosage of 30 mg every 4 weeks for the first 3 doses and then every 8 weeks.