Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. GABRA1 encodes for the α1 subunit of the γ-aminobutyric acid type A receptor (GABAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have been developed to understand the function of GABRA1, but these models have produced complex and, at times, incongruent data.
View Article and Find Full Text PDFA 51-year-old male with a history of Cacchi-Ricci disease and long-standing infection with various species of presented with recurrent symptoms of right-sided flank pain. Numerous renal calculi were identified on imaging. The etiology of the calculi had not been previously elucidated.
View Article and Find Full Text PDFSarcoidosis is a chronic granulomatous disease of unknown cause characterized by the presence of non-caseating granulomas. The disease can affect any organ including the nervous system. Neurosarcoidosis occurs in about 5% patients with sarcoidosis.
View Article and Find Full Text PDFStress is fundamental for health and adaptation; it is an evolutionarily conserved response that involves several systems in the organism. The study of the stress response could be traced back to the end of the nineteenth century with George Beard's or Claude Bernard's work and, from that moment on, several studies that have allowed the elucidation of its neurobiology and the consequences of suffering from it were consolidated. In this theoretical review, we discuss the most relevant researches to our knowledge on the study of stress response, from the concept of stress, its neurobiology, the hormonal response during stress, as well as its regulation, the effects of acute and chronic stress, stress from cognition, the different stress responses during life, as well as its relationship with different psychiatric disorders.
View Article and Find Full Text PDFBackground: Cardiac arrest is a public health problem related to high morbidity and mortality. In Colombia, objective data characterize in our population has been not available. The aim of this study has been to determined the epidemiological characteristics of patients with cardiorespiratory arrest treated in an emergency room.
View Article and Find Full Text PDFAntioxidants (Basel)
November 2023
The antioxidant effect of cuttlefish () ink (CFI) was analysed in the present study. A model system consisting of minced seabream () muscle and different concentrations of an aqueous extract of CFI was subjected to a heat (50 °C) treatment for 12 days. The effects of the CFI content and the heating time on lipid oxidation (conjugated diene (CD), conjugated triene (CT), and peroxide values and fluorescent compound formation), hydrolysis (free fatty acid content) development, and changes in the fatty acid (FA) profile (polyene index (PI), unsaturated FA content, ω3/ω6 ratio) were determined.
View Article and Find Full Text PDFAir pollution is a major concern for human health and the environment. Consequently, environmental standards have become stricter to improve air quality. Thanks to this, the ambient levels of O precursors such as VOCs and NO have decreased.
View Article and Find Full Text PDFThis work explores methodologies for dynamic trajectory generation for urban driving environments by utilizing coarse global plan representations. In contrast to state-of-the-art architectures for autonomous driving that often leverage lane-level high-definition (HD) maps, we focus on minimizing required map priors that are needed to navigate in dynamic environments that may change over time. To incorporate high-level instructions (i.
View Article and Find Full Text PDFStatistical learning techniques and increased computational power have facilitated the development of self-driving car technology. However, a limiting factor has been the high expense of scaling and maintaining high-definition (HD) maps. These maps are a crucial backbone for many approaches to self-driving technology.
View Article and Find Full Text PDFVariants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.
View Article and Find Full Text PDFConsumers are becoming aware of functional ingredients such as medicinal herbs, polyphenols, mushrooms, amino acids, proteins, and probiotics more than ever before. Like yogurt and its probiotics, L-glutamine, quercetin, slippery elm bark, marshmallow root, N-acetyl-D-glucosamine, licorice root, maitake mushrooms, and zinc orotate have demonstrated health benefits through gut microbiota. The impact of these ingredients on yogurt starter culture bacteria characteristics is not well known.
View Article and Find Full Text PDFVascularized composite allotransplantation has great potential in face transplantation by supporting functional restoration following tissue grafting. However, the need for lifelong administration of immunosuppressive drugs still limits its wide use. Modified mRNA (modRNA) technology provides an efficient and safe method to directly produce protein .
View Article and Find Full Text PDFBackground: The COVID-19 pandemic brought immense changes to medical school curriculums world-wide, such as the widespread adoption of virtual learning. We sought to better understand the impact on medical students' mental health at Rocky Vista University College of Osteopathic Medicine, Parker, CO, United States. This study assessed the impact the pandemic had on anxiety and depression levels of medical students.
View Article and Find Full Text PDFMutations in the HCFC1 transcriptional co-factor protein are the cause of cblX syndrome and X-linked intellectual disability (XLID). cblX is the more severe disorder associated with intractable epilepsy, abnormal cobalamin metabolism, facial dysmorphia, cortical gyral malformations, and intellectual disability. In vitro, murine Hcfc1 regulates neural precursor (NPCs) proliferation and number, which has been validated in zebrafish.
View Article and Find Full Text PDFMutation of the gene is associated with neurodevelopmental defects and epilepsy. encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have previously been developed to understand the function of during development, but these models have produced complex and at times incongruent data.
View Article and Find Full Text PDFVariants in the gene cause combined methylmalonic acidemia and homocystinuria type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.
View Article and Find Full Text PDFBackground: The medical school curriculum has imposed psychological stressors on students worldwide, some of which may induce feelings of increased depression and anxiety. Meanwhile, the COVID-19 pandemic has exacerbated the feelings of stress, depression, and anxiety that a portion of medical students experience in their daily life. The aim of this systematic review is to gather concrete data from medical schools around the globe, and further evaluate how the COVID-19 pandemic has impacted medical students' mental health.
View Article and Find Full Text PDFProsthetic joint infection is the most feared complication of implant surgeries. Its diagnosis continues to be a challenge since its clinical presentation is usually not very evident and overlapping. A high clinical suspicion is needed to make a timely diagnosis.
View Article and Find Full Text PDFAlthough infection with Leishmania braziliensis is perhaps the key reason to treat New World cutaneous leishmaniasis (CL) and mucosal leishmaniasis (ML), the total literature contains relatively few reported cases. With the aim of supplementing the meager clinical information available, we searched the records of Jorochito (Dermatology) Hospital, Bolivia, for the years 1999-2020 and identified treatment records for 1,696 naive CL patients and 355 naive ML patients. Because follow-up was poor for this real-world treatment experience in the developing world, only 255 CL patients (15%) and 114 ML patients (32%) attended follow-up at Hospital.
View Article and Find Full Text PDFAnthropogenic emissions in Europe have been gradually reduced thanks to a combination of factors, including restrictive regulation and policy implementation, fuel switching, technological developments, and improved energy efficiencies. Many measures have been specifically introduced to meet the annual and hourly limit value of NO for the protection of human health, mainly targeting traffic emissions. Due to NO reduction policies in Europe, NO levels have generally declined, but O concentrations have been found to increase.
View Article and Find Full Text PDFVascularized composite allografts contain various tissue components and possess relative antigenicity, eliciting different degrees of alloimmune responses. To investigate the strategies for achieving facial allograft tolerance, we established a mouse hemiface transplant model, including the skin, muscle, mandible, mucosa, and vessels. However, the immunomodulatory effects of the mandible on facial allografts remain unclear.
View Article and Find Full Text PDFObjective: This study aimed to compare the effectiveness of pharmacological therapy with and without direct maxillary sinus saline irrigation for the management of chronic rhinosinusitis without polyps.
Methods: In this prospective randomised controlled trial, 39 non-operated patients were randomly assigned to be treated with direct maxillary sinus saline irrigation in conjunction with systemic antibiotics and topical sprays (n = 24) or with pharmacological therapy alone (n = 15). Endoscopy, Sino-Nasal Outcome Test and Lund-MacKay computed tomography scores were obtained before, six weeks after and one to two years after treatment.