Publications by authors named "Juan F Ortiz"

Magnetic-assisted robotic surgery (MARS) has been developed to maximize patient benefits of minimally invasive surgery while enhancing surgeon control and visualization. MARS platform (Levita Magnetics) comprises two robotic arms that provide control to an external magnetic controller and an off-the-shelf laparoscopic camera. Our aim was to evaluate the safety and efficacy of the MARS platform in laparoscopic renal and adrenal procedure for the first time.

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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there is no established consensus on this disease treatment in terms of medications.

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CANOMAD, characterized by chronic ataxic neuropathy, ophthalmoplegia, immunoglobulin M (IgM) paraprotein, cold agglutinins, and disialosyl antibodies, encompasses a clinical, radiological, and laboratory diagnosis. CANOMAD is a rare condition, with fewer than 100 cases reported in the literature. The understanding and diagnosis of the disease have improved in the last few years, but the treatment of CANOMAD is mainly unknown, and there is not a clear consensus about it.

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Article Synopsis
  • * A systematic review was conducted analyzing four clinical trials that focused on the role of arginine in treating MELAS, utilizing established research guidelines and bias assessment tools.
  • * The findings suggest that intravenous arginine may help alleviate symptoms during MELAS attacks, while oral arginine could enhance blood vessel function and potentially reduce the risk of future stroke-like episodes.
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Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests.

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Few studies have thoroughly evaluated the neuro-invasive effect of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which may contribute to a wide range of sequelae from mild long-term effects like headaches and fatigue to severe events like stroke and arrhythmias. Our study aimed to evaluate the long-term neurological effects of coronavirus disease 2019 (COVID-19) among patients discharged from the hospital. In this systematic review and meta-analysis, we assessed the long-term neurocognitive effects of COVID-19.

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Ataxia is a constellation of symptoms that involves a lack of coordination, imbalance, and difficulty walking. Hereditary ataxia occurs when a person is born with defective genes, and this degenerative disorder may progress for several years. There is no effective cure for ataxia, so we need to search for new treatments.

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Alien limb phenomenon (ALP) is a clinical finding seen in numerous neurological disorders, including Creutzfeldt-Jakob disease (CJD). We aimed to conduct a systematic review to update advances in understanding the classification and pathophysiology of ALP in CJD. We used PubMed advanced-strategy searches and only included full-text observational studies and case reports conducted on humans and written in English.

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PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. The protein also seems to regulate gamma-aminobutyric acid type A receptors (GABA(A)(R)). The disease presents with refractory epilepsy that is characterized by seizures occurring in clusters.

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Background: Fabry disease (FD) is the second most common lysosomal storage disorder. This disorder affects multiple systems that include the cardiac, renal, and nervous system. The pulvinar sign (PS) is a relatively common sign seen in patients with FD.

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(1) Background: Reversible cerebral vasoconstriction syndrome (RCVS) encompasses a clinical and radiological diagnosis characterized by recurrent thunderclap headache, with or without focal deficits due to multifocal arterial vasoconstriction and dilation. RCVS can be correlated to pregnancy and exposure to certain drugs. Currently, the data on prevalence of RCVS in the postpartum period is lacking.

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Introduction: Tobacco use is one of the most significant risk factors for stroke. Besides traditional cigarettes and combustible products, the use of e-cigarettes and electronic nicotine delivery products has been widespread among young adults in the recent era. Furthermore, the trend of vaping has increased over the last decade.

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Kleine-Levin syndrome (KLS) is characterized by episodes of hypersomnia. Additionally, these patients can present with hyperphagia, hypersexuality, abnormal behavior, and cognitive dysfunction. Functional neuroimaging studies such as fMRI-BOLD, Positron Emission Tomography (PET) or SPECT help us understand the neuropathological bases of different disorders.

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Narcolepsy is a chronic and disabling neurological disorder characterized by excessive daytime sleepiness (EDS) and cataplexy. Historically, some medications have demonstrated efficacy in managing EDS and cataplexy symptoms. However, some patients cannot tolerate them, become refractory, or may use concomitant medications that preclude the use due to drug-drug interaction.

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Stroke is a leading cause of death and disability, especially in certain ethnic groups. Impaired consciousness is a common outcome in stroke patients, serving as a predictor of prognosis and mortality. Lately, there has been increased interest in drugs such as Levodopa (LD), which have been found to promote wakefulness.

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Primary Central Nervous System Lymphoma (PCNSL) is a rare variant of Non-Hodgkin Lymphoma (NHL) representing 1-2% of all NHL cases. PCNSL is defined as a lymphoma that occurs in the brain, spinal cord, leptomeninges, or eyes. Efforts to treat PCNSL by traditional chemotherapy and radiotherapy have generally been unsuccessful as a significant proportion of patients have frequent relapses or are refractory to treatment.

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Fabry disease (FD) is an X-linked disorder involving multiple organs. Stroke is a serious and frequent complication of FD. Cryptogenic stroke is a common presentation of FD, especially in the young population.

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Parinaud's syndrome involves dysfunction of the structures of the dorsal midbrain. We investigated the pathophysiology related to the signs and symptoms to better understand the symptoms of Parinaud's syndrome: diplopia, blurred vision, visual field defects, ptosis, squint, and ataxia, and Parinaud's main signs of upward gaze paralysis, upper eyelid retraction, convergence retraction nystagmus (CRN), and pseudo-Argyll Robertson pupils. In upward gaze palsy, three structures are disrupted: the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF), interstitial nucleus of Cajal (iNC), and the posterior commissure.

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The diagnosis of post-cardiac ablation pericarditis is difficult as it requires the exclusion of the more common causes of chest pain, but in the right setting, non-invasive diagnostic tools are adequate. Here we present the case of a 60-year-old man who underwent atrial fibrillation ablation and subsequently developed severe mid-sternal chest pain and dyspnea one day later without significant electrocardiographic findings, a mildly elevated troponin T, and elevation of the right hemidiaphragm. The patient was managed conservatively.

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Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis (ANMDARE) is an autoimmune disorder with neurological and psychiatric features. The disease presents with a viral prodrome, followed by psychiatric manifestations. In the next phase, movement disorders or/and seizures occur.

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Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne virus endemic to a vast geographical area spanning from Africa to the shores of the Mediterranean Sea and north to the Balkans. The infection carries a high case fatality rate, which prompts the development of new treatment and prophylactic measures. This review explores the different treatment and prophylactic measures found in recent literature.

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Human African trypanosomiasis (HAT), or sleeping sickness disease, is an infection caused mainly by human African trypanosomiasis (g-HAT) and is transmitted by tsetse flies. The disease goes through two stages: hemolymphatic and meningo-encephalic phases. The treatment for the second stage has changed from melarsoprol or eflornithine to nifurtimox-eflornithine combination therapy (NECT) and fexinidazole.

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Locked-in syndrome (LIS) is a neurological disorder in which there is damage to the ventral pons and caudal midbrain. An ischemic cause, such as basilar artery occlusion, can often lead to LIS. LIS has three subtypes: classical, partial, and total.

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Megacephaly polymicrogyria, polydactyly, hydrocephalus (MPPH) is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes. Although the prevalence of the syndrome is very low, there is a significant clinical and radiological variation in the syndrome. We present a case with MPPH admitted to the hospital due to an increase in seizure frequency.

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