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https://bonga.unisimon.edu.co/handle/20.500.12442/1558

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Brain volumetric analysis using artificial intelligence software in premanifest huntington’s disease individuals from a Colombian Caribbean population
(MDPI, 2024) Ríos Anillo, Margarita Rosa; Ahmad, Mostapha; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Henao-Castaño, Maria C.; Morales-Moreno, Maria T.; Espitia-Almeida, Fabian; VARGAS MANOTAS, JOSE; Sánchez Barros, Cristian Manuel; Pineda, David A.; Sánchez Rojas, Manuel
Background and objectives: The premanifest phase of Huntington’s disease (HD) is characterized by the absence of motor symptoms and exhibits structural changes in imaging that precede clinical manifestation. This study aimed to analyze volumetric changes identified through brain magnetic resonance imaging (MRI) processed using artificial intelligence (AI) software in premanifest HD individuals, focusing on the relationship between CAG triplet expansion and structural biomarkers. Methods: The study included 36 individuals descending from families affected by HD in the Department of Atlántico. Sociodemographic data were collected, followed by peripheral blood sampling to extract genomic DNA for quantifying CAG trinucleotide repeats in the Huntingtin gene. Brain volumes were evaluated using AI software (Entelai/IMEXHS, v4.3.4) based on MRI volumetric images. Correlations between brain volumes and variables such as age, sex, and disease status were determined. All analyses were conducted using SPSS (v. IBM SPSS Statistics 26), with significance set at p < 0.05. Results: The analysis of brain volumes according to CAG repeat expansion shows that individuals with ≥40 repeats evidence significant increases in cerebrospinal fluid (CSF) volume and subcortical structures such as the amygdalae and left caudate nucleus, along with marked reductions in cerebral white matter, the cerebellum, brainstem, and left pallidum. In contrast, those with <40 repeats show minimal or moderate volumetric changes, primarily in white matter and CSF. Conclusions: These findings suggest that CAG expansion selectively impacts key brain regions, potentially influencing the progression of Huntington’s disease, and that AI in neuroimaging could identify structural biomarkers long before clinical symptoms appear.
Case Report: Medial prefrontal syndrome in a coup de sabre scleroderma carrier
(Taylor and Francis, 2023) Sanguino-Caneva, Ciro; Carrillo-Chapman, Carlos; Luque-Llano, Melissa; Bermúdez, Valmore; Vargas-Manotas, José
Introduction: Linear scleroderma en coup de sabre is a subtype of scleroderma hallmarked by cutaneous and extracutaneous manifestations in which neurological symptoms can be a predominant feature of this condition. Case presentation: We report a case of a previously healthy 47-year old male who developed neuropsychiatric symptoms and right-sided cephalalgia for two months. Clinical examination revealed a right frontoparietal cutaneous lesion and neurological findings suggesting a medial prefrontal syndrome. The neuroimaging evaluation identified scalp and bone thinning adjacent to the skin lesion and cortical subcortical white matter hyperintensity due to vasogenic oedema at the right frontal and parietal region. A biopsy from the affected area revealed reactive gliosis. Conclusion: To our knowledge, this is the first linear scleroderma en coup de sabre report associated with a neurological involvement typical of a medial prefrontal syndrome. This case highlights the importance of clinical acuity in recognising atypical phenotypes within the spectrum of this uncommon disease.
Clinical effectiveness of treatments for mild cognitive impairment in adults: a systematic review
(MDPI, 2025) Cepeda-Pineda, Daniel; Sequeda, Gabriela ; Carrillo-Sierra, Sandra-Milena; silvera cruz, kevin; Redondo-Chamorro, Johanna ; ROZO SANCHEZ, ASTRID CAROLINA; Bermudez, Valmore; Contreras-Velásquez, Julio César; Gómez Charris, Yulineth; Rivera-Porras, Diego
Background/Objectives: Mild cognitive impairment (MCI) represents an intermediate stage between normal ageing and dementia, with a high annual progression rate. Despite its clinical relevance, no pharmacological treatment has been definitively approved for this condition; however, multiple pharmacological and non-pharmacological strategies have been investigated for their potential benefits. This systematic review assessed the effectiveness of both types of interventions in adults with MCI, aiming to identify effective strategies to preserve cognitive function. Methods: A systematic search (2017–2025) was conducted in PubMed, Scopus, ScienceDirect, SpringerLink, and WOS, following PRISMA guidelines. Randomised controlled trials and quasi-experimental studies involving adults aged ≥ 50 years with a diagnosis of MCI were included. Outcomes were evaluated in terms of cognitive, functional, behavioural, and quality-of-life improvements. Risk of bias was assessed using the RoB 2 and ROBINS-I tools. Results: Of 108,700 records screened, 40 studies were included. Non-pharmacological interventions, such as cognitive training (conventional, computerised, or virtual reality-based), consistently improved memory, attention, and executive functions (e.g., MoCA: +3.84 points; p < 0.001). Transcranial magnetic stimulation combined with physical exercise also demonstrated significant benefits (p = 0.025). Among pharmacological treatments, only vortioxetine and choline alfoscerate showed modest improvements; cholinesterase inhibitors had limited effects and frequent adverse events. Complementary therapies (yoga, probiotics, and acupuncture) yielded promising outcomes but require further validation. Conclusions: Non-pharmacological strategies, particularly cognitive training and physical exercise, emerge as the most effective and safe approaches for managing MCI. The inclusion of pharmacological interventions with preliminary evidence of benefit should be considered within a personalised, multimodal approach, while recognising the current absence of approved drug treatments for MCI. Further research is needed in underrepresented populations, such as those in Latin America.
Extracranial vertebral artery dissecting aneurysm presenting as vertebrobasilar stroke in a young adult: Case report of flow-diverter stenting
(MDPI, 2025) Coronel, Maria Angelica; Luque-Llano, Melissa; Núñez-Bravo, Narledis; Rebolledo, Carlos; Barceló-Martínez, Ernesto
Background: Extracranial vertebral artery aneurysms (EVAAs) are exceptionally rare vascular lesions and an uncommon cause of posterior circulation stroke. Their diagnosis is often delayed due to nonspecific symptoms, yet prompt recognition is essential to guide management. Objective: This study aimed to report a rare case of an extracranial vertebral artery dissecting aneurysm presenting as a posterior circulation stroke in a young adult, successfully managed with flow-diverter stenting. Clinical Case: A 33-year-old woman presented with sudden-onset dysarthria, vertigo, nausea, and vomiting. Brain magnetic resonance imaging revealed infarcts in the left occipital lobe, cerebellar peduncle, and both cerebellar hemispheres. Computed tomography angiography (CTA) demonstrated a fusiform aneurysm in the V2 segment of the left vertebral artery, and digital subtraction angiography (DSA) confirmed a dissecting aneurysm. The patient was successfully treated with a flow-diverting stent and remained stable at 6 months’ follow-up with mRS 1. Results: EVAA are uncommon but can manifest as posterior circulation ischemic events in young patients. Endovascular treatment with flow-diverting stents has been reported as a feasible option in selected cases, although evidence remains limited to case reports and small series. Conclusions: This case underscores the importance of considering rare yet potentially treatable etiologies of vertebrobasilar stroke in young patients and highlights the value of a multidisciplinary approach to management.
Internal ophthalmoplegic migraine during pregnancy: a clinical case
(MDPI, 2025) Castillo-Guerrero, Brenda; Londoño-Juliao, Gloria; pianetta, yesenia; Gutiérrez-Rey, Melissa; Zuñiga, Bley Jair; Pestana, Gustavo; Carbonell-Zabaleta, Ana-Karina; Rivera-Porras, Diego; Bermudez, Valmore; VARGAS MANOTAS, JOSE
Abstract: Background: Ophthalmoplegic migraine (OM) is an uncommon variant of migraine characterised by headache and cranial nerve palsy, posing significant diagnostic and therapeutic challenges. Objective: This study aimed to describe an extremely rare OM variant with a partial therapeutic response. Clinical Case: A 34-year-old pregnant woman in gestational week 19.1 (G6P2A3) with a history of three consecutive spontaneous abortions presented at the emergency services with insidious onset and mild-to-moderate-intensity pulsatile bifrontal headache for 15 days, and the positional changes exacerbated this. At peak intensity, she experienced nausea, vomiting, tinnitus, and photophobia without phonophobia or osmophobia, prompting multiple visits to the emergency department. Despite a broad range of treatments, including intravenous fluids, analgesia, pericranial blocks, and preventive management, there was a non-significative improvement in the symptomatology described above. However, spontaneous resolution of this clinical picture was observed during the postpartum period. Results: This case highlights the complexity of ophthalmoplegic migraine, especially in the context of pregnancy, and raises questions about the underlying pathophysiological mechanisms. The absence of structural lesions on neuroimaging and postpartum resolution suggests a potential association with the hormonal and physiological changes associated with pregnancy. Conclusions: Despite limited scientific evidence, this report contributes to expanding the knowledge of this rare entity and emphasises the importance of a multidisciplinary approach to its management.
Uncovering the genetic and molecular features of huntington’s disease in northern Colombia
(MDPI, 2024) Ahmad, Mostapha; Ríos Anillo, Margarita Rosa; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Martinez-Banfi, Martha Luz; Pineda-Alhucema, Wilmar ; Puentes-Rozo, Pedro; Sánchez Barros, Cristian Manuel; Pinzón, Andrés; Patel, Hardip; Vélez, Jorge; Villarreal-Camacho, Jose Luis; Pineda, David A.; Arcos-Burgos, Mauricio; Sánchez Rojas, Manuel
Huntington’s disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world’s second-largest HD pedigree. Here, we include 291 descendants of this pedigree with at least one family member with HD. Blood samples were collected, and genomic DNA was extracted. We quantified the HTT CAG expansion using an amplicon sequencing protocol. The genetic heterogeneity was measured as the ratio of the mosaicism allele’s read peak and the slippage ratio of the allele’s read peak from our sequence data. The statistical and bioinformatic analyses were performed with a significance threshold of p < 0.05. We found that the average HTT CAG repeat length in all participants was 21.91 (SD = 8.92). Of the 291 participants, 33 (11.3%, 18 females) had a positive molecular diagnosis for HD. Most affected individuals were adults, and the most common primary and secondary alleles were 17/7 (CAG/CCG) and 17/10 (CAG/CCG), respectively. The mosaicism increased with age in the participants with HD, while the slippage analyses revealed differences by the HD allele type only for the secondary allele. The slippage tended to increase with the HTT CAG repeat length in the participants with HD, but the increase was not statistically significant. This study analyzed the genetic and molecular features of 291 participants, including 33 with HD. We found that the mosaicism increased with age in the participants with HD, particularly for the secondary allele. The most common haplotype was 17/7_17/10. The slippage for the secondary allele varied by the HD allele type, but there was no significant difference in the slippage by sex. Our findings offer valuable insights into HD and could have implications for future research and clinical management.
The weight of bariatric surgery: Wernicke–Korsakoff syndrome after vertical sleeve gastrectomy—A case series
(MDPI, 2024) Gutiérrez-Rey, Melissa; Castellar Visbal, Lily; Acevedo Vergara, Kaleb; Vargas-Manotas, José; Rivera-Porras, Diego; Londoño-Juliao, Gloria; Castillo-Guerrero, Brenda; Perdomo Jiménez, María Camila ; Bermudez, Valmore
In this case series, the simultaneous occurrence of Wernicke’s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without immediate postoperative complications, but two weeks later, hyperemesis and subsequent encephalopathy with ocular movement abnormalities and weakness were observed over the following thirty days. Patients were referred to neurology, where due to the high suspicion of WE, thiamine replacement therapy was initiated; meanwhile, diagnostic neuroimaging and blood tests were conducted. Neurological and psychiatric evaluations and neuroconduction studies were performed to assess the clinical evolution and present sequelae. One year after diagnosis, all patients exhibited affective and behavioral sequelae, anterograde memory impairment, and executive functioning deficits. Two patients met the criteria for Korsakoff syndrome. Additionally, peripheral nervous system sequelae were observed, with all patients presenting with sensorimotor polyneuropathy. In conclusion, Wernicke’s encephalopathy requires a high diagnostic suspicion for timely intervention and prevention of irreversible sequelae, which can be devastating. Therefore, raising awareness among medical professionals regarding the significance of this disease is essential.

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