González Andrade, Fabricio
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González Andrade, Fabricio
Main Affiliation
Quito
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fabriciogonzalez@uti.edu.ec
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Scopus Author ID
8720668100

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Identification of a Pathogenic Mutation of the Lipase Maturation Factor 1 (LMF1) Gene Causing Recurrent Pancreatitis and Requiring Critical Care

2025 , Andrés Fernando Montalvo , González Andrade, Fabricio , María José Molestina , Jhonny Manuel Carranza , Claudio Maldonado , Denise Battaglini , Jorge Luis Vélez-Paéz

Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by extreme hypertriglyceridemia (>1000 mg/dL), recurrent pancreatitis, and lipoprotein lipase (LPL) deficiency. Mutations in the LMF1 gene, encoding a chaperone protein required for LPL maturation, can lead to combined lipase deficiency. This study reports a case of a 33-year-old Ecuadorian mestizo woman presenting with recurrent pancreatitis secondary to severe hypertriglyceridemia, in whom two LMF1 variants of uncertain significance (VUS) were identified. Methods: Whole-exome sequencing (WES) was performed on the patient and her asymptomatic son using next-generation sequencing (NGS). Data analysis included computational pathogenicity predictors (REVEL, PolyPhen, SIFT, MutationTaster, etc.). Two LMF1 variants—c.1142C>T (p.Pro381Leu) and c.897G>A (p.Gln299Gln)—were identified. Their pathogenic potential was assessed based on allele frequency (gnomAD), bioinformatics predictions, and ACMG criteria. Results: Both variants were classified as VUS, with c.897G>A predicted to affect splicing, potentially leading to loss of function. The c.1142C>T (p.Pro381Leu) variant, despite its low frequency, remains unclassified due to insufficient evidence. The patient’s son carried one variant but was asymptomatic. The patient’s phenotype suggested an intermediate form between monogenic and polygenic hypertriglyceridemia. Conclusions: This is a new Ecuadorian report of LMF1-related hypertriglyceridemia, highlighting the need for functional studies to confirm pathogenicity. Given the classification of both variants as VUS, further research is required to elucidate their clinical significance. This case underscores the necessity of a combined genetic and biochemical approach for diagnosing and managing severe hypertriglyceridemia.

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Angiographic Predictors of Intracranial Aneurysm Rupture: A Morphological and Epidemiological Study in Ecuadorian Patients

2025 , Luis Nuñez-Del-Arco , González Andrade, Fabricio , Gabriel Flores-Enderica , Franz Durán-Carrillo , Germán Abdo-Sarras

Intracranial aneurysms (IAs) pose a significant public health threat due to their potential to rupture, causing subarachnoid hemorrhage (SAH) and high rates of morbidity and mortality. In Ecuador, limited access to endovascular treatment heightens the need for early risk identification. To analyze the morphological and demographic characteristics associated with aneurysm rupture in Ecuadorian patients and to develop a predictive model for rupture risk. A retrospective, cross-sectional study was conducted involving 236 patients with 302 intracranial aneurysms diagnosed at a tertiary center in Quito, Ecuador. Data collected included demographics, comorbidities, aneurysm morphology (size, angulation, location), and treatment approach. Logistic regression was used to identify rupture predictors, and a predictive model was developed. The mean age was 48.42 years; most patients were female (69.49%) and mestizo (98.3%). Hypertension was the most common comorbidity (41.1%). Rupture was observed in 72.45% of aneurysms, with SAH being the most frequent presentation. Aneurysms in the PComm (OR: 2.71, p < 0.001) and AComA (OR: 3.63, p = 0.001), with a length > 4.43 mm (OR: 3.68, p = 0.0001) or Type 2 angle (45–90°, OR: 1.81, p = 0.01), had significantly higher rupture risk. The final model showed 64.6% accuracy (AUC: 0.692). Morphological features are strong predictors of rupture and may guide early intervention. The proposed model is simple and practical, with potential for integration into triage protocols, especially in resource-limited settings. These findings highlight the importance of morphology-based risk assessment in improving aneurysm outcomes.

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MRI reveals scoliosis as a silent driver of lumbar facet joint degeneration in aging Ecuadorian adults

2025 , Pablo Cueva-Medina , Jorge Silva-Hidalgo , González Andrade, Fabricio

Lumbar facet arthropathy (LFA) is a degenerative condition of the facet joints that contributes significantly to chronic low back pain (CLBP) yet remains underrecognized in standard diagnostic protocols. While aging and disc degeneration are established factors in the progression of LFA, the potential role of spinal deformities such as scoliosis has not been thoroughly investigated. This cross-sectional study examined the association between scoliosis severity and LFA in a non-surgical population of 284 Ecuadorian adults aged 30 to 80 years. Participants were classified by Cobb angle into normal, mild, moderate, and severe scoliosis categories and underwent MRI to assess facet joint degeneration at the L3–L4, L4–L5, and L5–S1 levels. Findings revealed that moderate scoliosis significantly increased the odds of severe LFA across all lumbar levels, particularly at L3–L4 (OR = 6.72) and L5–S1 (OR = 5.57). Mild scoliosis also posed a notable risk, with a threefold increase at L4–L5 and a twofold increase at L5–S1. Additionally, degeneration was more severe on the concave side of the scoliotic curve. Older age and female sex were also independently associated with more advanced degeneration. These results suggest that scoliosis, even in its mild forms, plays a significant role in the development and progression of LFA. The findings highlight the importance of including facet joint evaluation in routine scoliosis assessment and CLBP workups, particularly using MRI. Early identification of individuals at risk could inform preventive strategies and reduce long-term disability related to degenerative spinal disease.

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Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort

2025 , González Andrade, Fabricio , Fausto Coello , Edwin Andrade , Henry Vásconez

Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right‐ear predominance and conductive hearing loss are well‐documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.ObjectiveTo compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.MethodsA cross‐sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure‐tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi‐square tests (p < 0.05).ResultsRight‐ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.ConclusionMicrotia is most commonly right‐sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource‐limited settings.

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A comprehensive study of Ecuadorian adult patients with a mild and moderate presentation of COViD-19

2023 , González Andrade, Fabricio , Carrero Y.

Aim To characterize non-hospitalized patients with mild and moderate clinical presentation. Methods We performed an epidemiological, observational, descriptive, and cross-sectional study carried out in Ecuador, with 1,447 participants between 18 and 66 years, non-hospitalized, with a molecular RT-PCR test for SARS-CoV2. We analyzed demographic characteristics according to sex, age group, clinical findings, behavior after diagnosis, family and social behavior, sequelae, clinical evolution, type of exposure, and personal history. Results The sample analyzed had a mean age of 37 years (95% CI 18–66), women 713 individuals (49.27%), men 733 individuals (50.66%). Age group distribution was 18–30 years, 524 individuals (36.29%), 31–45, 538 individuals (37.26), and more of 45 years, 382 individuals (26.46%). 1416 individuals were mestizos (97.99%). According to the province of residence from Pichincha were 1019 patients (70.52%), followed by Imbabura, 93 patients (6.44%), and the others 335 (23.15%) patients come from all over the country. In women, the most common findings were fever >38C (54.40%), sputum (27.43%) and hypoxia (16.32%); HTN (5.75%) and hypercholesterolemia (3.69%). Men were more prevalent in all other findings. Comorbidities were more prevalent in all those over 45 years of age. COVID-19 antibodies test was positive in 416 patients (28.85%). Neuropsychiatric symptoms such as sleep disorders, generalized anxiety disorder, depressed mood, and chronic fatigue were more prevalent in men than women. Still, generalized anxiety disorder and chronic fatigue were more common in individuals of 31 to 45 years. 868 patients (60.07%) were in contact with a known infected person, 318 patients (22.02%) were health workers, and 782 patients (57.63%) were informed about work exposure. 545 patients (37.72%) were overweight, primarily women 310 (42.29%). 609 patients (42.65%) showed symptoms after the acute period, and 331 individuals (23.49%) reported some sequelae. Conclusion The epidemiological and clinical behavior of hospitalized and critical patients differs greatly from ambulatory or mild or moderate symptoms. It is essential to highlight those non-hospitalized patients constitute the predominant population of patients, hence the importance of adequate management that would directly affect the development of complicated forms and, consequently, the collapse of healthcare centers. It is vitally important to open more investigations that compare hospitalized and outpatient patients to have a clearer picture of the epidemic. Copyright: © 2023 González-Andrade, Carrero. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Time-to-treatment in traumatic brain injury: unraveling the impact of early surgical intervention on patient outcomes

2025 , María Inés Egas Terán , González Andrade, Fabricio

Background: Traumatic brain injury (TBI) remains a major public health concern due to its high morbidity and mortality. The ‘golden hour’ principle suggests that outcomes improve with rapid access to definitive care. However, the role of prehospital transport time in TBI prognosis remains unclear, particularly in resource-limited settings. This study evaluates the relationship between hospital arrival time and functional prognosis in TBI patients. Methods: A cross-sectional observational study was conducted in two Ecuadorian trauma centers from 2017 to 2020. Patients were categorized into early (<8 h) and late (>8 h) hospital arrival groups. Demographic, clinical, radiological, and surgical variables were analyzed. The primary outcome was functional prognosis, measured by the Glasgow Outcome Scale (GOS) at hospital discharge. Logistic regression was used to adjust for confounding variables. Results: A total of 373 TBI patients were analyzed. The early-care group presented with more severe injuries, lower Glasgow Coma Scale (GCS) scores, and higher rates of abnormal pupillary responses. Late-arriving patients had better initial neurological status and were more likely to have received prehospital stabilization. Surgical intervention was delayed in both groups, with 67.8% of early-care patients undergoing surgery 8–24 h post-trauma. Adjusted analysis showed no significant difference in functional outcomes between early and late-care groups (OR 1.95, p = 0.08). Conclusion: Hospital arrival time alone does not significantly influence TBI outcomes. Instead, prehospital stabilization, initial GCS, and timely surgical intervention are stronger prognostic factors. Trauma care strategies should prioritize improving prehospital management and reducing in-hospital delays rather than strictly adhering to the ‘golden hour’ paradigm.

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Impact of Delayed Trauma Unit Admission on Mortality and Disability in Traumatic Brain Injury Patients

2025 , Julio Quispe-Alcocer , Antonio Biroli , González Andrade, Fabricio

Traumatic brain injury (TBI) remains a critical public health issue worldwide, with significant morbidity, mortality, and long-term disability. Timely transfer to a specialized trauma unit is crucial to improving outcomes, yet in resource-limited settings, delays often exceed recommended time frames. This study evaluates the impact of arrival time on mortality, disability, and clinical outcomes in Ecuadorian patients with TBI. A cross-sectional and observational study was conducted, analyzing 383 adult patients diagnosed with TBI. Patients were categorized into two cohorts: those who arrived at a specialized trauma unit within five hours post-injury and those who arrived between five and 24 h. Demographic, clinical, and radiological characteristics were analyzed, including Glasgow Coma Scale (GCS), Injury Severity Score (ISS), Marshall Scale classification, and presence of subarachnoid hemorrhage (SAH). Logistic regression models were used to identify predictors of mortality and disability. Longer transfer times were associated with increased mortality (3.34 times higher for ≥5 h, p < 0.05) and disability (2.92 times higher for ≥5 h, p < 0.05). Patients with Marshall Diffuse Injury III and IV had an 8.80- and 9.05-fold increased risk of mortality, respectively. SAH was an independent predictor of mortality (4.53 times higher), and GCS between 9–13 increased the likelihood of death by 6.49 times. Delayed transfers were associated with lower GCS at admission, longer ICU stays, and increased surgical complications. Although some survivors experienced improvement over time, disability in TBI can persist for many years or even lifelong, underscoring the burden of delayed trauma care. Despite delays, overall survival remained higher than reported in high-income countries, suggesting compensatory factors in hospital-based management. Delayed hospital arrival in TBI patients significantly increases mortality and disability. Early transfer within five hours is essential to reduce secondary brain injury and improve functional outcomes. Findings suggest that in resource-limited settings, optimizing pre-hospital care and transport efficiency is crucial to minimizing long-term disability.

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Grading the damage: Prognostic significance of diffuse axonal injury severity and hemorrhagic lesions in traumatic brain injury outcomes

2025 , Nanci Estefanía Bayas-Almeida , González Andrade, Fabricio

Background: Diffuse axonal injury (DAI) is a key determinant of prognosis in traumatic brain injury (TBI), yet the interaction between DAI severity and associated hemorrhagic lesions is not well defined, especially in low- and middle-income countries (LMICs). Methods: We conducted a retrospective cohort study of 283 adults with moderate-to-severe TBI admitted to a tertiary hospital in Ecuador (2019–2023). DAI severity was graded anatomically using CT or MRI, and patients were stratified by the presence of hemorrhagic lesions. Demographic, clinical, metabolic, and radiological variables were collected. Outcomes were evaluated at 6 months with the Glasgow Outcome Scale–Extended (GOS-E). Logistic and ordinal regression models identified predictors of mortality and disability. Results: Of 283 patients, 141 had isolated DAI and 142 had DAI with hemorrhage. Baseline demographics were similar. Patients with hemorrhagic lesions had lower median Glasgow Coma Scale scores (6 vs 9, p < 0.001), more frequent hyperglycemia (15.5 % vs 7.1 %, p = 0.045), and greater surgical needs (77.5 % vs 16.3 %, p < 0.001). Complications, including pneumonia and central nervous system infections, were more frequent in the hemorrhagic group (63.9 % vs 45.7 %, p < 0.001). At 6 months, functional outcomes were significantly worse with hemorrhage (median GOS-E 7 vs 8, p < 0.001). Multivariable regression identified Grade III DAI as the strongest predictor of mortality (OR 20.02, 95 % CI 7.99–50.15) and disability (OR 71.59, 95 % CI 23.11–221.77). Hemorrhagic lesions predicted poor functional recovery (OR 2.08, 95 % CI 1.24–3.48) but not mortality. Conclusions: DAI grading is the most powerful prognostic factor in severe TBI, while hemorrhagic lesions primarily worsen disability. In LMICs, CT-based assessment remains essential for prognostic stratification and guiding rehabilitation strategies.

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Demographic, Functional, and Risk Factors Characterization in Ecuadorian Mestizo Patients With Microtia: A Retrospective Study

2024 , González Andrade, Fabricio , Fausto Coello , Ramiro López-Pulles , Guillermo Fuenmayor , Edwin Andrade , Henry Vásconez

Objective: This paper compares demographic, morphological, functional, and risk factors between isolated and familial forms of microtia in Ecuadorian mestizo patients. Methods: The authors did an epidemiological, and retrospective study with 112 patients divided into isolated microtia (n = 91) and familial microtia (n = 21). Patients with syndromic microtia were not included. Results: In isolated microtia, the mean age was 11.80 ± 16.9, and the most prevalent age group was from 5 to 9 years, with 45.0%; males were 58.2%, and 91.2% of patients were born in a city above 2500 meters about sea level. In familial microtia, the mean age was 15.57 ± 17.2. There were no statistically significant differences between the analyzed variables. In isolated microtia, 41.8% of patients had bilateral involvement, 40.7% had grade 1 microtia in the right ear (RE), and grade 1 in the left ear was 47.3%; external auditory canal atresia of RE was present in 62.6%, and in left ear in 31.6%. External auditory canal atresia sidedness was mostly unilateral in both groups. Most patients did not have tags or pits (78% and 81% in RE and 85.7% and 71.4%). Most patients had moderate hearing loss in both ears. Conclusion: The authors found an association between both microtia forms with external auditory canal atresia in RE; only 20% of patients had unilateral auricular tags or pits in both groups. The authors also found a high incidence (18.75%) of familial microtia, which suggests a distinct pathological genetic component than the more prevalent isolated cases. The authors found a high association of microtia cases from the Ecuadorian highlands above 2500 meters about sea level (over 90%). The presence of “social” intake of alcohol during pregnancy showed over twice the chance of having a child born with microtia.

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