Medicina - Palmira
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Item Síndrome de Williams Beuren en lactante mayor con retraso pondoestatural sin presencia de cardiopatía congénita: reporte de caso(Universidad Santiago de Cali, 2023) Bahena Marín, Valentina; Campo Gallego, Vanessa; Restrepo Gaviria, Deisy Lorena; Kanan Mohamed, Ahmad Talat (Director)Williams disease is a genetic disorder of neurological development, which includes different clinical manifestations such as growth and intellectual retardation, congenital heart disease and distinctive facial features, with an incidence of 1/10,000 live births in the world¹. Case report of an older infant, with a perinatal history of intrauterine growth retardation (IUGR), threatened preterm delivery and breech position, for which she required a cesarean section in a highly complex clinic with availability neonatal intensive care unit. In which said pathology was suspected, due to the presence of phenotypic characteristics such as epicanthal fold, wide nasal bridge, thick lips, bitemporal narrowing, being diagnosed with Williams syndrome, through genetic and imaging tests in which it is important to highlight that no one of the most frequent characteristics of this syndrome, which is congenital heart disease, the highlight in this case being its marked weight, height and psychomotor retardation. The objective of this report is to present the main clinical characteristics that guide the early diagnosis of Williams Syndrome, which belongs to the group of rare diseases. So that health personnel can provide comprehensive management and thus generate greater visibility of this disease in the scientific community.Item Aplasia cutis congénita tipo I en un recién nacido, reporte de caso(Universidad Santiago de Cali, 2023) Aluma López, María Alexandra; Kanan, Ahmad Talat (Director); Salcedo Libreros, Luis Felipe (Codirector)Aplasia cutis (ACC) is a congenital condition with an unusual appearance in pediatrics, especially in newborns, characterized by the absence of skin that can compromise the epidermis, dermis, and even underlying tissues such as the pericranium and meninges. ¹ A case report of a newborn clinically diagnosed with ACC is presented. According to Frieden's characteristics, it corresponds to the type 1 classification, taking into account the size and location of the lesion. The objective of this systematic review is to describe the aesthetic and functional results in a patient with ACC with conservative treatment.Item Esquizofrenia de aparición temprana en menores de 15 años: manifestaciones clínicas, diagnóstico y tratamientos eficaces revisión sistemática (2018-2023)(Universidad Santiago de Cali, 2024) Moreno Cruz, Luis Carlos ; Alape Morales, George ; Viveros Muñoz, Jesús Arnaldo; Castro Penagos, Lilia Julieta (Directora)The aim of this systematic review was to analyse early-onset schizophrenia, a condition that represents a significant challenge due to its impact on the psychological and social development of young patients. The importance of this study lies in the need to better understand the risk factors, diagnostic methodologies and therapeutic approaches to improve outcomes in this vulnerable population. Twenty articles on the disease were reviewed to assess the most relevant clinical and therapeutic aspects. The methodology included the selection of studies using specific inclusion and exclusion criteria, followed by a detailed analysis of the data obtained. The results indicate that factors such as the use of psychoactive substances, childhood abuse and family instability significantly increase the risk of developing early-onset paranoid schizophrenia. In addition, second-generation antipsychotics and non-pharmacological interventions, such as cognitive-behavioral therapy, have shown effectiveness in managing symptoms, improving the quality of life of patients.Item Síndrome de Gorham Stout en un paciente joven: reporte de caso(Universidad Santiago de Cali, 2024) Angulo Velásquez, Eider Andrés; Ayala Victoria, Fabián Santiago; Legarda Córdoba, Juan Diego; Barahona Rebolledo, Carolina (Directora)Gorham Stout syndrome is a low prevalence bone disease of unknown etiology, characterized by progressive osteolysis, which can manifest at any age, without gender or race predisposition and can affect any part of the skeletal system. Although there are no specific symptoms, diagnostic methods or specific management for this pathology, symptoms such as dyspnea, fever, weight loss associated with osteolysis may occur. A common complication is the development of chylothorax, which occurs in approximately 20% of patients, and is associated with a poor prognosis with a high mortality rate. In this case report, a young adult male patient will be presented who, after several episodes of dyspnea, is diagnosed with chylothorax of unknown cause, and in order to clarify the etiology, diagnostic images such as PET scan and MRI are taken where osteolysis was observed in vertebral bodies and costal arches. The clinical and imaging manifestations and evidence of generalized lymphatic abnormality led to the diagnosis of Gorham Stout Syndrome and its symptoms were managed. Because this entity does not have a protocolized management, treatment with sirolimus and zoledronic acid was tested, achieving a good response to lymphatic proliferation and osteolytic progression. The objective of this case report is to present the clinical and imaging characteristics that guide us to a suspicion of this pathology, because it is considered a diagnostic challenge. Likewise, the management received by this patient opens the possibility of carrying out new medical studies towards a pharmacological therapy.Item Complicaciones en un paciente con esclerosis sistémica cutánea limitada (síndrome CREST): reporte de caso(Universidad Santiago de Cali, 2024) Riascos Ceballos, Segundo Alex; Cedeño, Diana Vanessa; Londoño, Mario Andrés (Director)Scleroderma is an autoimmune disease characterized by the accumulation of scar tissue and damage to internal organs such as the heart, blood vessels, lungs, stomach and kidneys. It is relatively uncommon and affects mostly women between the ages of 30 and 50. The main types of scleroderma are localized scleroderma and systemic scleroderma, which include subtypes such as CREST syndrome and diffuse cutaneous systemic scleroderma. The exact cause of these diseases is not clear, but genetic factors seem to be important in the disease. , it has also been suggested that exposure to certain chemicals could be a cause, but most patients do not have a history of exposure to chemicals(1). In this case report, a 76-year-old female patient with a history of scleroderma, Raynaud's syndrome, pulmonary hypertension, esophageal moniliasis, hyperuricemia, anemic syndrome, arterial hypertension, chronic kidney disease, who attends the emergency, is presented. real due to fatigue and shortness of breath when walking, necrosis in 3 toes of the left foot and edema in the lower limbs, multiple paraclinical tests, images and an abdominal aortogram plus selective arteriography of the lower limbs plus medicated balloon angioplasty in the left popliteal artery were performed. Immunosuppressive treatment is given, however it is not possible to obtain clinical improvement of the necrotic lesions, finally it is decided to perform amputation of the affected phalanges. With the clinical characteristics of the patient and the pathologies that she presents as background, it is considered that the events that occurred correspond to a complication of a CREST Syndrome.Item Tumor de Wilms en niño de 6 años: reporte de caso(Universidad Santiago de Cali, 2024) Cuellar Chaparro, Danyely Alexandra; Sanclemente Rivera, Isabella; Fajardo Villegas, Juan David; Kanan Mohamed, Talat Ahmad (Director)Among the most common neoplasms in the pediatric population are tumors of the nevious system, tumors of the hematopoietic system, retinoblastoma, and renal tumors. Renal tumors are the second most common intra-abdominal neoplasm in the pediatric population, of which 90% are estimated to correspond to primary malignant tumors, specifically Wilms' tumor, with bilateral presentation being the least common among renal tumors. We present the case of a male patient of 2 years of extrauterine life with fever, abdominal pain, and sudden onset with the presence of mass in the left flank and hypochondrium. He underwent neoadjuvant chemotherapy and bilateral partial nephrectomy. The post-surgical histopathological study confirmed a synchronous bilateral Wilms' tumor. The importance of this case lies in exposing a clinical presentation of Wilms tumor in its most uncommon form in a pediatric patient in order to broaden the knowledge about the diagnosis, and the importance of a multidisciplinary treatment.Item Importancia del pedigree en el diagnóstico neonatal de las enfermedades huérfanas: reporte de caso MPS VI(Universidad Santiago de Cali, 2024) Cuero Castro, José Rodolfo; Ardila Millán, Luisa María; Ortiz González, Daniela; Maldonado Benítez, David Emilio (Director)Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a lysosomal storage disease that has an autosomal recessive inheritance pattern. It is progressive in nature, requiring early diagnosis and treatment. It is determined by the presence of variants in the gene encoding the lysosomal enzyme, arylsulfatase B, located on chromosome 5 (5q13-5q14). MPS occurs with an approximate frequency of one case in 25,000 live births worldwide. With a frequency of 2.04:100,000 in Asia and 1.2:100,000 in the United States. Studies carried out in Colombia proposed an incidence of 0.45:100,000 patients with MPS I, 0.17:100,000 with MPS III, 0.68:100,000 with MPS IV and 0.23:100,000 in patients with MPS VI; with no impact of MPS VII and MPS IX. According to the National Institute of Health of Colombia, in 2023, in the epidemiological period XIII, 13,714 cases were reported to the Public Health Surveillance System (SIVIGILA) for rare orphan diseases. Of these, only 0.07%, equivalent to 9 patients, were reported as MPS VI, and for the year 2024, no new cases of MPS VI have yet been reported to the Public Health Surveillance System (SIVIGILA). In our country there are no neonatal screening policies (pedigree) for lysosomal storage diseases, for some newborns the phenotype involvement may be subtle, hence the importance of evaluating prenatal, perinatal and family risk factors. The realization of the pedigree, and a good clinical history allow early detection in order to establish specific and targeted treatments, bringing us closer to precision medicine in order to reduce morbidity-mortality in countries where there are no neonatal screening policies.Item Conocimiento, actitudes y prácticas del uso del cannabis medicinal en los médicos de la ciudad de Cali en 2024 para el tratamiento del dolor neuropático crónico, y cómo se correlaciona este uso con la efectividad según la revisión sistemática revisada en Colombia por el Instituto de Evaluación de Tecnologías en Salud (IETS) en 2022(Universidad Santiago de Cali, 2024) Rodríguez Játiva, David Ricardo; Morales Galindo, Cesar Alexander; Restrepo Zapata, Jorge Humberto (Director)Chronic neuropathic pain is a significant public health problem that affects patients' quality of life. It is associated with disabling diseases and decreased mobility, which in turn reduces activity in daily life. In primary care, there is a lack of satisfactory tools that allow physicians to specify the type of pain, focused on the patient's needs. Treatment of this type of pain is challenging, and conventional therapies often fail to provide adequate relief. In recent years, medical cannabis has been proposed as a therapeutic option for these patients. Therefore, a descriptive cross-sectional correlational study was carried out, which showed that most physicians in Cali do not formulate this therapy due to different limitations such as: lack of knowledge regarding the benefits of THC/CBD with respect to chronic neuropathic pain, which generates certain limitations for safe use in consultation, professionals agree that lack of training is the main limitation of formulation and better training encourages the use of medical cannabis in patients with chronic neuropathic pain as an alternative to different therapies.Item Factores asociados a mortalidad en pacientes con COVID-19 y síndrome de distrés respiratorio agudo manejados con decúbito prono y ventilación mecánica invasiva(Universidad Santiago de Cali, 2024) Hoyos de Armas, Beatriz Helena; Lozada Ramos, Heiler (Director); Daza Arana, Jorge Enrique (Director)Introduction: the WHO has reported more than 775 million cases of individuals with COVID-19, with more than 7 million deaths around the world, of which 5-15% have developed severe forms that may require management in intensive care. This group of patients generally develops severe forms of the disease with acute respiratory distress syndrome, which are managed with invasive mechanical ventilation, prone position, and intravenous steroids. In turn, this group of individuals could have a fatality rate as high as 50%, with reductions between 10-15% in those who were ventilated in the prone position. Likewise, there remains a high percentage of patients who do not benefit from such management and end up dying; it is therefore essential to identify what factors are associated with mortality in this group of subjects. Objective: to identify risk factors associated with mortality in a group of adult patients with severe COVID-19 managed with invasive mechanical ventilation and prone position in an Intensive Care Unit in Valle del Cauca, Colombia. Methodology: analytical observational epidemiological study of cases and controls. Sociodemographic, clinical and intensive care intervention variables were evaluated. A univariate and bivariate analysis was developed with their respective odds ratios (OR), subsequently a logistic regression was executed to establish the factors related to the in-hospital mortality event. Results: the present study included 61 cases and 61 controls. The cases had more frequency (p<0.05): age >65 years, history of autoimmune diseases, no previous vaccination, anosmia/hypogeusia in the acute period, use of vasopressor and inotrope, thrombocytopenia, high level of LDH, higher averages of PTT, high SOFA score and high modified RALE scale value on chest x-ray. The regression model for predicting mortality included the variables of history of diabetes mellitus (OR 44.91; 95% CI: 2.08-96.74, p=0.015), chronic obstructive pulmonary disease (OR 7.74; 95% CI: : 1.63-30.65, p=0.027), autoimmune (OR 17.84; 95% CI: 4.47-31.05, p=0.004), not having a complete prior vaccination schedule against COVID-19 (OR 29.87; 95% CI: 24.80-35.99, p=0.000), vasopressor requirement (OR 8.37; 95% CI: 1.44-48.40, p=0.018) and inotrope (OR 40, 99; 95%CI: 1.73-96.79, p=0.021), and a severe modified RALE score (OR 7.01; 95%CI: 1.23-48.15, p=0.047). Conclusion: Clinical and vaccination history and admission status to the intensive care unit influence the outcome of in-hospital mortality in subjects with severe COVID-19, which allows clinicians to be alerted to the risk profiles of adult patients. critically. patients in the acute stage of SARS-CoV-2 infection.Item Importancia de los programas de intervención de obesidad en adultos como estrategia de promoción y prevención: revisión sistemática(Universidad Santiago de Cali, 2024) Leal Galvis Angye Marcela; López Domínguez Veya Estefani; Ochoa Tafurt Tatiana; Molano Agudelo, Pedro Andrés (Director)Obesity is a chronic disease whose prevalence and incidence are increasing significantly; largely influenced by globalization and the increasing consumption of ultra-processed foods and sugary drinks, in addition to sedentary lifestyle, among others; in overweight or obese individuals, particularly those with morbidities, weight loss greater than or equal to 5% in the long term, whether with diet, exercise or medication, is associated with improvement in several cardiovascular and cardiometabolic risk factors (1). The clinical management of the patient with obesity involves a therapeutic challenge that requires a holistic and personalized approach. The implementation of programs that address obesity from a transversal approach is essential to combat not only excess weight, but also the various concomitant conditions that affect the patient's health; and therefore, it becomes the appropriate tool for health promotion and disease prevention in healthcare settings. In this context, a systematic literature review was conducted with the aim of presenting evidence to justify the contribution and importance of outpatient obesity programs, presenting information on their structure and approach, addressing strategies that allow for comprehensive management, from health promotion and disease prevention. To carry out this review, the OVID, LILACS and PubMed databases were used, using the date of publication, language, type of article and accessibility as eligibility criteria. This systematic review showed that outpatient obesity programs not only impact patients' weight, but also influence BMI, waist circumference, and cardiovascular risk. In addition, it was determined that, as a strategy, health education interventions, individualized management, and the use of pharmacological therapy have proven to be useful. Likewise, they constitute spaces for health care around health promotion and disease prevention, since they bring together interventions and guidelines necessary for primary health care to address obesity by identifying and intervening in risk factors, early diagnosis and treatment, as well as delaying its progression and preventing the appearance of complications and comorbidities.Item Úlcera arterial crónica en paciente con poliautoinmunidad, reporte de caso(Universidad Santiago de Cali, 2024) Arboleda Rúales, Angie Daniela; Quintero Narváez, Laura Isabella; Ortiz Guzmán, Xiomara Katherin; Mondragón Montaño, Anderson Fabian (Director)A case of an elderly patient with a chronic arterial ulcer attributed to scleroderma (SS) is presented; however, multiple systemic alterations explained by a phenomenon of polyautoimmunity are evident. In this condition, various and complex alterations of immunity are combined that generate clinical syndromes that are difficult to interpret, causing confusion and delays in diagnosis and management. This patient, treated at a level I hospital and with a history of Hansen disease, exhibits initial mucocutaneous involvement and later hematological, pulmonary, and autoimmune findings that suggest a systemic disease that is difficult to differentiate between SSc and Systemic Lupus Erythematosus (SLE). This generated delays in the start of immunosuppressive pharmacological treatment and great disability in the patient, as well as prolonged hospitalization stays. Flaws are evident in the comprehensive approach to patients with an autoimmune condition and access barriers to specialized care in highly complex institutions. This report attempts to ratify the theory about the presence of polyautoimmunity in a significant proportion of patients with scleroderma in the Afro-Latino population.Item Hemorragia posparto: la mejor evidencia disponible, prevención y manejo – revisión de la literatura(Universidad Santiago de Cali, 2024) Salazar Blanco, Alexandra; Narváez Cardona, Laura Isabel; García Clavijo, Johanna Andrea (Directora)Introduction: Postpartum hemorrhage is considered the leading cause of maternal mortality worldwide, which, despite advances in knowledge of management and prevention, has not been inevitable. Efforts to improve conditions in health care institutions are immense in terms of management, but prevention is a significant weakness. It is currently estimated that around 287,000 women died during and after pregnancy and childbirth in 2020. Nearly 95% of all maternal deaths occurred in low- and lower-middle-income countries in 2020, and most could have been prevented. Objective: To review the best available evidence published in the last 8 years (2016-2024) on management and prevention of postpartum hemorrhage worldwide. Methodology: This is a retrospective study of analysis and review of the literature, taking the most recent guidelines published by the scientific societies of obstetrics and gynecology in each continent (SCOG, FIGO, SOGON, FOGSI, NESOG, FLASOG, ACOG, RANZCOG, RCOG). For each society we searched websites where updated published guidelines were identified, as well as searches in PudMed, Science Direct, National Library of Medicine and National Guideline Clearinghouse databases. Results: Starting with the definition of PPH, the consensus in all guidelines proposes a grade 1 A evidence recommendation for hemodynamic instability rather than volume of blood loss. For use of uterotonics such as oxytocin in prevention and management of postpartum hemorrhage the evidence recommendation is grade 1 A, the use of tranexamic acid is also reiterated with grade 1 A recommendation in all cases of postpartum hemorrhage. Conclusions: The guidelines of all societies aim to improve the definition of postpartum hemorrhage in terms of hemodynamic instability and provide their best evidence recommendations for prevention with the use of uterotonics, continuing in first place oxytocin. They also emphasize the recognition of risk factors to generate prevention interventions, since management is fully recognized.Item Fiebre de Mediterráneo Familiar en una Paciente Afrodescendiente de 10 Años - Reporte de Caso(Universidad Santiago de Cali, 2024) Perlaza Riascos, María Del Carmen; Lasso Castellanos, Karem Dayana; Alomia Lerma, Juliana; Kanan Mohamed, Talat AhmadMediterranean fever is an autosomal recessive inherited autoinflammatory disease, which is more prevalent in males than in females and its age of onset is usually in people younger than 20 years in 90% of cases; however, 50% of patients may start with symptoms before the age of 10 years. The following case report shows a 10-year-old Afro-descendant patient with early onset of manifestations, with autosomal dominant mutation in the MEFV gene and other heterozygous genetic alterations. The importance of this case report lies in the unusual presentation in people of African descent, since the epidemiology of this disease is more frequent in Jewish, Armenian, Turkish and Arab people. Therefore, the information presented in this case report allows us to contribute to the knowledge of this disease, its diagnosis and manifestation in patients who are not the common phenotype or genotype of this pathology.