Neurología general.artículos

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed

2025-02-16T00:00:00Z

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed Caiza-Zambrano, Francisco; Aldecoa, Mayra; Rugilo, Carlos; Taratuto, Ana Lía; Marchesoni, Cintia; León-Cejas, Luciana; Reisin, Ricardo; Bonardo, Pablo Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in GBE-1 gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. We report a 63-year-old woman with urinary incontinence, walking difficulty and episodes of forgetfulness. She had symmetrical limb weakness with upper motor neurone signs, distal sensory loss and a broad-based ataxic gait. MR scans of the brain and spine showed white matter changes with cerebellar and spinal cord atrophy. Sural nerve biopsy identified intra-axonal polyglucosan bodies. A multigene panel test identified a GBE-1 pathogenic variant, confirming the diagnosis of adult polyglucosan body disease. This case emphasises the importance of considering rare genetic disorders in people with autonomic dysfunction, mixed upper and lower motor neurone signs, peripheral neuropathy and cognitive impairment.

Validation of an Artificial Intelligence-Powered Virtual Assistant for Emergency Triage in Neurology

2025-02-06T00:00:00Z

Validation of an Artificial Intelligence-Powered Virtual Assistant for Emergency Triage in Neurology Alessandro, Lucas; Crema, Santiago; Castiglione, Juan Ignacio; Dossi, Daiana Elizabeth; Eberbach, Federico; Kohler, Alejandro Alfredo; Laffue, Alfredo Hernan; Marone, Abril; Nagel, Vanesa; Pastor Rueda, José Manuel; Varela, Francisco José; Fernández Slezak, Diego; Rodríguez Murúa, Sofía; Debasa, Carlos; Pensa, Claudio; Farez, Mauricio Franco Objectives: Neurological emergencies pose significant challenges in medical care in resource-limited countries. Artificial intelligence (AI), particularly health chatbots, offers a promising solution. Rigorous validation is required to ensure safety and accuracy. Our objective is to evaluate the diagnostic safety and effectiveness of an AI-powered virtual assistant (VA) designed for the triage of neurological pathologies. Methods: The performance of an AI-powered VA for emergency neurological triage was tested. Ten patients over 18 years old with urgent neurological pathologies were selected. In the first stage, 9 neurologists assessed the safety of the VA using their clinical records. In the second stage, the assistant's accuracy when used by patients was evaluated. Finally, VA performance was compared with ChatGPT 3.5 and 4. Results: In stage 1, neurologists agreed with the VA in 98.5% of the cases for syndromic diagnosis, and in all cases, the definitive diagnosis was among the top 5 differentials. In stage 2, neurologists agreed with all diagnostic parameters and recommendations suggested by the assistant to patients. The average use time was 5.5 minutes (average of 16.5 questions). VA showed superiority over both versions of ChatGPT in all evaluated diagnostic and safety aspects (P<0.0001). In 57.8% of the evaluations, neurologists rated the VA as "excellent" (suggesting adequate utility). Conclusions: In this study, the VA showcased promising diagnostic accuracy and user satisfaction, bolstering confidence in further development. These outcomes encourage proceeding to a comprehensive phase 1/2 trial with 100 patients to thoroughly assess its "real-time" application in emergency neurological triage.

Oxidative stress associated with spatial memory impairment and social olfactory deterioration in female mice reveals premature aging aroused by perinatal protein malnutrition

2023-07-16T00:00:00Z

Oxidative stress associated with spatial memory impairment and social olfactory deterioration in female mice reveals premature aging aroused by perinatal protein malnutrition Ferroni, Nadina M.; Chertoff, Mariela J.; Alberca, Carolina D.; Berardino, Bruno G.; Gianatiempo, Octavio; Brahamian, Martin; Levi, Valeria; Urrutia, Leandro; Falasco, Germán; Cánepa, Eduardo Tomás; Sonzogni, Silvina V. Early-life adversity, like perinatal protein malnutrition, increases the vulnerability to develop long-term alterations in brain structures and function. This study aimed to determine whether perinatal protein malnutrition predisposes to premature aging in a murine model and to assess the cellular and molecular mechanisms involved. To this end, mouse dams were fed either with a normal (NP, casein 20%) or a low-protein diet (LP, casein 8%) during gestation and lactation. Female offspring were evaluated at 2, 7 and 12 months of age. Positron emission tomography analysis showed alterations in the hippocampal CA3 region and the accessory olfactory bulb of LP mice during aging. Protein malnutrition impaired spatial memory, coinciding with higher levels of reactive oxygen species in the hippocampus and sirt7 upregulation. Protein malnutrition also led to higher senescence-associated β-galactosidase activity and p21 expression. LP-12-month-old mice showed a higher number of newborn neurons that did not complete the maturation process. The social-odor discrimination in LP mice was impaired along life. In the olfactory bulb of LP mice, the senescence marker p21 was upregulated, coinciding with a downregulation of Sirt2 and Sirt7. Also, LP-12-month-old mice showed a downregulation of catalase and glutathione peroxidase, and LP-2-month-old mice showed a higher number of newborn neurons in the subventricular zone, which then returned to normal values. Our results show that perinatal protein malnutrition causes long-term impairment in cognitive and olfactory skills through an accelerated senescence phenotype accompanied by an increase in oxidative stress and altered sirtuin expression in the hippocampus and olfactory bulb.

Sífilis ocular: alerta para clínicos y oftalmólogos

2023-01-01T00:00:00Z

Sífilis ocular: alerta para clínicos y oftalmólogos Camporro, Julieta; Del Castillo, Marcelo Ernesto; Mora, Claudia A. Syphilis is an infectious disease caused by the spirochete Treponema pallidum. It can cause ocular compromise at any stage, in immunocompetent or immunocompromised patients. Even though the ocular form is not frequent, due to the increase in the incidence of syphilis in recent years, it is mandatory to take it into consideration as a differential diagnosis in visual disorders. The most common clinical presentation is uveitis. Diagnosis is based on the presence of clinical signs and symptoms consistent with ophthalmologic involvement in a patient with syphilis. The CSF study should be performed on a clinical basis, to rule out concomitant neurological involvement. We present 5 cases of ocular syphilis, its clinical manifestations, treatment and evolution.