Serotonin plays a central role in mood regulation and the development of depressive disorders. The serotonin transporter, the primary regulator of serotonin levels, presents genetic variants that affect its functionality.
Aim: To study whether functional bi-allelic 5-HTTLPR or tri-allelic 5-HTTLPR/rs25531 polymorphisms in the serotonin transporter gene are associated with the diagnosis of depression.
Methods: The Composite International Diagnostic Interview (CIDI-10) and sociodemographic and psychosocial questionnaires were applied to 969 primary care center patients aged 18 to 75 years to establish the diagnosis of depression. A saliva sample was obtained for DNA extraction and genetic analysis.
Results: No association was found between the diagnosis of depression in the last 12 months and risk genotypes grouped for 5HTTLPR or 5-HTTLPR/rs25531. Of the sociodemographic variables, female sex and the number of different forms of violence experienced in childhood proved to be predictors of depression in the sample studied.
Conclusions: In this study, 5HTTLPR/rs25531 polymorphisms, independent of the bi- or tri-allelic analysis performed, did not prove to be risk factors for depression. In turn, we corroborated that female sex and childhood traumatic events are associated with an increased risk of developing a major depressive episode.
{"title":"[Association of the 5HTTLPR/rs25531 Genetic Variant with Depression in a Cohort of Primary Care Patients].","authors":"Paola Lagos-Muñoz, Benjamín Vicente, Kristin Schmidt, Alejandra Guzmán-Castillo, Ximena Macaya, Esteban Moraga, Juan Luis-Castillo, Romina Rojas-Ponce","doi":"10.4067/s0034-98872024000500577","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500577","url":null,"abstract":"<p><p>Serotonin plays a central role in mood regulation and the development of depressive disorders. The serotonin transporter, the primary regulator of serotonin levels, presents genetic variants that affect its functionality.</p><p><strong>Aim: </strong>To study whether functional bi-allelic 5-HTTLPR or tri-allelic 5-HTTLPR/rs25531 polymorphisms in the serotonin transporter gene are associated with the diagnosis of depression.</p><p><strong>Methods: </strong>The Composite International Diagnostic Interview (CIDI-10) and sociodemographic and psychosocial questionnaires were applied to 969 primary care center patients aged 18 to 75 years to establish the diagnosis of depression. A saliva sample was obtained for DNA extraction and genetic analysis.</p><p><strong>Results: </strong>No association was found between the diagnosis of depression in the last 12 months and risk genotypes grouped for 5HTTLPR or 5-HTTLPR/rs25531. Of the sociodemographic variables, female sex and the number of different forms of violence experienced in childhood proved to be predictors of depression in the sample studied.</p><p><strong>Conclusions: </strong>In this study, 5HTTLPR/rs25531 polymorphisms, independent of the bi- or tri-allelic analysis performed, did not prove to be risk factors for depression. In turn, we corroborated that female sex and childhood traumatic events are associated with an increased risk of developing a major depressive episode.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"577-588"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500563
María de la Paz Grebe, María Soledad Álvarez de Campos, Ángel M Centeno, Lucía M Galazi
This research set out to identify and describe turning points in the lives of medical, nursing, and psychology students in a school of health sciences at a private university in Argentina. Turning points refer to unexpected events and situations in people's lives where it is possible to determine a change or transformation.
Aim: to explore turning points originating in the health sciences school. Through a qualitative, exploratory, and descriptive cross-sectional study, we tried to identify, describe, and characterize turning points in the students' lives.
Methods: The strategy used was the recording of narratives and an interview. Twenty-three students in their final year of Medicine, Nursing, and Psychology participated. A thematic analysis of the narratives and interviews using Atlas ti software allowed us to identify the main dimensions/categories the students recognized as significant in their educational trajectory. These categories included meaningful experiences meaningful people transformative places, and pandemics.
Results: The temporal distance to becoming aware of events that become turning points is a condition that affects their identification. Students know situations but cannot recognize that these can become turning points.
Conclusion: This study made it possible to make visible aspects of the institutional culture that affect the shaping of professional identity and are transversal to the degree courses in this health sciences school.
{"title":"[Exploring Turning Points in the Academic Lives of Health Sciences Students].","authors":"María de la Paz Grebe, María Soledad Álvarez de Campos, Ángel M Centeno, Lucía M Galazi","doi":"10.4067/s0034-98872024000500563","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500563","url":null,"abstract":"<p><p>This research set out to identify and describe turning points in the lives of medical, nursing, and psychology students in a school of health sciences at a private university in Argentina. Turning points refer to unexpected events and situations in people's lives where it is possible to determine a change or transformation.</p><p><strong>Aim: </strong>to explore turning points originating in the health sciences school. Through a qualitative, exploratory, and descriptive cross-sectional study, we tried to identify, describe, and characterize turning points in the students' lives.</p><p><strong>Methods: </strong>The strategy used was the recording of narratives and an interview. Twenty-three students in their final year of Medicine, Nursing, and Psychology participated. A thematic analysis of the narratives and interviews using Atlas ti software allowed us to identify the main dimensions/categories the students recognized as significant in their educational trajectory. These categories included meaningful experiences meaningful people transformative places, and pandemics.</p><p><strong>Results: </strong>The temporal distance to becoming aware of events that become turning points is a condition that affects their identification. Students know situations but cannot recognize that these can become turning points.</p><p><strong>Conclusion: </strong>This study made it possible to make visible aspects of the institutional culture that affect the shaping of professional identity and are transversal to the degree courses in this health sciences school.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"563-576"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500589
Cristóbal Oyarzún, Sonia Arriagada, Lorena Soto, Leonidas Llanos, Andrea Bancalari
The management of proteinuria in patients with lupus nephritis represents a challenge for the specialist. Recently, Calcineurin Inhibitors have been positioned as an effective alternative in these patients, but their use is not widespread in our country. We report the experience of three centers in this regard.
Methods: a review of lupus nephritis patients treated with Tacrolimus from 3 centers in southern Chile.
Results: Data from 10 patients with Lupus nephritis were obtained. All of them had significant proteinuria after the traditional induction scheme. In most of them, there was a significant decrease in proteinuria without deterioration of creatinine at 12 months after treatment with Tacrolimus alone or in combination with Mycophenolate.
Conclusions: Tacrolimus alone or in combination with Mycophenolate is a safe and effective alternative in the management of Lupus nephritis-associated proteinuria.
{"title":"[Tacrolimus in Difficult to Treat Proteinuria Associated with Lupus Nephritis. Experience of 3 Centers].","authors":"Cristóbal Oyarzún, Sonia Arriagada, Lorena Soto, Leonidas Llanos, Andrea Bancalari","doi":"10.4067/s0034-98872024000500589","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500589","url":null,"abstract":"<p><p>The management of proteinuria in patients with lupus nephritis represents a challenge for the specialist. Recently, Calcineurin Inhibitors have been positioned as an effective alternative in these patients, but their use is not widespread in our country. We report the experience of three centers in this regard.</p><p><strong>Methods: </strong>a review of lupus nephritis patients treated with Tacrolimus from 3 centers in southern Chile.</p><p><strong>Results: </strong>Data from 10 patients with Lupus nephritis were obtained. All of them had significant proteinuria after the traditional induction scheme. In most of them, there was a significant decrease in proteinuria without deterioration of creatinine at 12 months after treatment with Tacrolimus alone or in combination with Mycophenolate.</p><p><strong>Conclusions: </strong>Tacrolimus alone or in combination with Mycophenolate is a safe and effective alternative in the management of Lupus nephritis-associated proteinuria.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"589-595"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500621
Cristian Sánchez E, Cristóbal Iglesias A, Constanza Almuna A, Andrés Liberona R, Leonidas Quintana C
Guillain-Barré Syndrome (GBS) is an acute inflammatory polyradiculoneuropathy that affects the peripheral nervous system, predominantly impairing motor function. Pain, both somatic and neuropathic, is reported in 89% of cases and is refractory to first-line analgesics in most of these. We present the case of a 75-year-old woman with an acute presentation of areflexic flaccid tetraparesis compatible with GBS. She received treatment with intravenous immunoglobulin (IVIg), which improved the motor component, but she experienced pain refractory to nonsteroidal anti-inflammatory drugs and pregabalin, as well as persistent urinary retention with unsuccessful attempts to remove the urinary catheter. Transdermal fentanyl was administered with good response and tolerance, in addition to tamsulosin and intermittent catheterization, resulting in the successful removal of the catheter after six weeks. Based on this case, individualized evaluation of pain and urinary retention in GBS is suggested, considering the use of transdermal opioids and non-invasive bladder emptying measures, respectively.
{"title":"[Case Report: Guillain-Barré Syndrome with Difficult-to-manage Pain and Persistent Urinary Retention].","authors":"Cristian Sánchez E, Cristóbal Iglesias A, Constanza Almuna A, Andrés Liberona R, Leonidas Quintana C","doi":"10.4067/s0034-98872024000500621","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500621","url":null,"abstract":"<p><p>Guillain-Barré Syndrome (GBS) is an acute inflammatory polyradiculoneuropathy that affects the peripheral nervous system, predominantly impairing motor function. Pain, both somatic and neuropathic, is reported in 89% of cases and is refractory to first-line analgesics in most of these. We present the case of a 75-year-old woman with an acute presentation of areflexic flaccid tetraparesis compatible with GBS. She received treatment with intravenous immunoglobulin (IVIg), which improved the motor component, but she experienced pain refractory to nonsteroidal anti-inflammatory drugs and pregabalin, as well as persistent urinary retention with unsuccessful attempts to remove the urinary catheter. Transdermal fentanyl was administered with good response and tolerance, in addition to tamsulosin and intermittent catheterization, resulting in the successful removal of the catheter after six weeks. Based on this case, individualized evaluation of pain and urinary retention in GBS is suggested, considering the use of transdermal opioids and non-invasive bladder emptying measures, respectively.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"621-626"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500542
Rubén Rojas, Nicolás Jaña, Carlos Arroyo, Patricia Palma, Gladys Alarcón, Luis Arriagada
Cardiovascular diseases, in addition to being a health problem for Chile, ranking as the second leading cause of death, also impose a significant economic burden on the country. Aiming to reduce these diseases' health and economic impact, we decided to structure a Cardiometabolic Integrated Practice Unit (UPI) at the FUSAT Clinical Hospital. Unlike the current organization of healthcare systems in Chile, a UPI is structured throughout the entire cycle of care (from promotion and prevention to rehabilitation), with a multidisciplinary team (both clinical and administrative) organized around closely related medical conditions or a set of health conditions.
Aim: This study aims to describe the process of structuring a Cardiometabolic Integrated Practice Unit (UPI) at the FUSAT Clinical Hospital.
Methodology: In this case, Porter and Lee's article was used as a basis for structuring this UPI.
Results: Based on this article, five steps were defined to organize this Cardiometabolic UPI: (1) patient selection, (2) patient stratification based on care needs, (3) patient selection and care, (4) communication strategy, and (5) definition of monitoring indicators.
Conclusion: After 6 months of collaborative work, we successfully implemented the UPI at the FUSAT Clinical Hospital. This achievement demonstrates that projects of this nature can be carried out through a defined organization and governance, a strategic definition and prioritization of objectives, and an adaptation of the methodology to the local reality. The successful implementation of the UPI inspires confidence in its potential impact on healthcare in Chile.
{"title":"[Experience in Implementing an Integrated Cardiometabolic Practice Unit in a Private Healthcare Provider: A Value-Based Care Model].","authors":"Rubén Rojas, Nicolás Jaña, Carlos Arroyo, Patricia Palma, Gladys Alarcón, Luis Arriagada","doi":"10.4067/s0034-98872024000500542","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500542","url":null,"abstract":"<p><p>Cardiovascular diseases, in addition to being a health problem for Chile, ranking as the second leading cause of death, also impose a significant economic burden on the country. Aiming to reduce these diseases' health and economic impact, we decided to structure a Cardiometabolic Integrated Practice Unit (UPI) at the FUSAT Clinical Hospital. Unlike the current organization of healthcare systems in Chile, a UPI is structured throughout the entire cycle of care (from promotion and prevention to rehabilitation), with a multidisciplinary team (both clinical and administrative) organized around closely related medical conditions or a set of health conditions.</p><p><strong>Aim: </strong>This study aims to describe the process of structuring a Cardiometabolic Integrated Practice Unit (UPI) at the FUSAT Clinical Hospital.</p><p><strong>Methodology: </strong>In this case, Porter and Lee's article was used as a basis for structuring this UPI.</p><p><strong>Results: </strong>Based on this article, five steps were defined to organize this Cardiometabolic UPI: (1) patient selection, (2) patient stratification based on care needs, (3) patient selection and care, (4) communication strategy, and (5) definition of monitoring indicators.</p><p><strong>Conclusion: </strong>After 6 months of collaborative work, we successfully implemented the UPI at the FUSAT Clinical Hospital. This achievement demonstrates that projects of this nature can be carried out through a defined organization and governance, a strategic definition and prioritization of objectives, and an adaptation of the methodology to the local reality. The successful implementation of the UPI inspires confidence in its potential impact on healthcare in Chile.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"542-551"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500640
Solange Parra-Soto, Fernanda Carrasco-Marín, Carlos Celis-Morales
{"title":"[Boosting Longevity: The Potential of a Healthy Diet to Increase Life Expectancy in Chile].","authors":"Solange Parra-Soto, Fernanda Carrasco-Marín, Carlos Celis-Morales","doi":"10.4067/s0034-98872024000500640","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500640","url":null,"abstract":"","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"640-642"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500643
Fanny Petermann-Rocha, Alonso Pizarro, Gabriela Nazar, Mauricio Zambrano-Bigiarini, Angela Plaza-Garrido, Felipe Díaz-Toro, Claudia Troncoso-Pantoja, Andrés Celis, Daniela Sugg, Carlos Celis-Morales
{"title":"[Water Availability and Security in the Development of Non-Communicable Chronic Diseases: New Risk Factors?]","authors":"Fanny Petermann-Rocha, Alonso Pizarro, Gabriela Nazar, Mauricio Zambrano-Bigiarini, Angela Plaza-Garrido, Felipe Díaz-Toro, Claudia Troncoso-Pantoja, Andrés Celis, Daniela Sugg, Carlos Celis-Morales","doi":"10.4067/s0034-98872024000500643","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500643","url":null,"abstract":"","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"643-644"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500552
Gonzalo Eymin, Chloe Jacomet, Pamela Gil, Carolina Verdugo, Emma Manríquez, Valentina Manríquez, José González Del Valle
Hyponatremia is the most common hydroelectrolyte disorder in hospitalized patients. It is unclear whether there are differences between severe hyponatremia (<125 mEq/L) and very severe hyponatremia (<115 mEq/L) in terms of etiology, response to therapy, and mortality.
Aim: Describe the etiology, symptoms, response to treatment and mortality of hospitalized adults with severe and very severe hyponatremia.
Methods: Retrospective study reviewing clinical and laboratory records of hospitalized patients between 2010 and 2020.
Results: records from 398 patients were obtained. The average age was 71,4 years. The average sodium Na+ upon admission was 116,5 mEq/L. 69,1% corresponded to severe hyponatremia and 30,9% to very severe. In the severe group, there were more patients with cirrhosis and renal failure, while in the very severe group, there was more use of SSRIs, hypokalemia, and hypouricemia, and more therapy with hypertonic sodium. 14,1% had no response (Na+<130), 49,0% had a partial response (Na+130-134), and 36,9% had a total response (Na+≥135). Those without response had more edema and cirrhosis and lower urea nitrogen and creatinine values, while those with response had more use of thiazides, ARA II, renal failure, as well as therapy with isotonic saline solution. Overall mortality was 10,1%. Survivors had more nausea and vomiting, used thiazides and ARBs on admission, and received more isotonic and hypertonic saline solutions. The deceased received more albumin and isotonic saline solutions, responded more to therapy, and cirrhosis was more common.
Conclusions: Differences related to etiology, response to treatment, and mortality were observed between patients with severe and very severe hyponatremia. These findings may generate hypotheses for prospective studies of hyponatremia in hospitalized patients.
{"title":"[Characteristics of Hospitalized Adults with Severe Hyponatremia: A Comparison of Patients with Severe and Very Severe Hyponatremia in Terms of Etiology, Symptoms, Treatment Response, and Mortality].","authors":"Gonzalo Eymin, Chloe Jacomet, Pamela Gil, Carolina Verdugo, Emma Manríquez, Valentina Manríquez, José González Del Valle","doi":"10.4067/s0034-98872024000500552","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500552","url":null,"abstract":"<p><p>Hyponatremia is the most common hydroelectrolyte disorder in hospitalized patients. It is unclear whether there are differences between severe hyponatremia (<125 mEq/L) and very severe hyponatremia (<115 mEq/L) in terms of etiology, response to therapy, and mortality.</p><p><strong>Aim: </strong>Describe the etiology, symptoms, response to treatment and mortality of hospitalized adults with severe and very severe hyponatremia.</p><p><strong>Methods: </strong>Retrospective study reviewing clinical and laboratory records of hospitalized patients between 2010 and 2020.</p><p><strong>Results: </strong>records from 398 patients were obtained. The average age was 71,4 years. The average sodium Na+ upon admission was 116,5 mEq/L. 69,1% corresponded to severe hyponatremia and 30,9% to very severe. In the severe group, there were more patients with cirrhosis and renal failure, while in the very severe group, there was more use of SSRIs, hypokalemia, and hypouricemia, and more therapy with hypertonic sodium. 14,1% had no response (Na+<130), 49,0% had a partial response (Na+130-134), and 36,9% had a total response (Na+≥135). Those without response had more edema and cirrhosis and lower urea nitrogen and creatinine values, while those with response had more use of thiazides, ARA II, renal failure, as well as therapy with isotonic saline solution. Overall mortality was 10,1%. Survivors had more nausea and vomiting, used thiazides and ARBs on admission, and received more isotonic and hypertonic saline solutions. The deceased received more albumin and isotonic saline solutions, responded more to therapy, and cirrhosis was more common.</p><p><strong>Conclusions: </strong>Differences related to etiology, response to treatment, and mortality were observed between patients with severe and very severe hyponatremia. These findings may generate hypotheses for prospective studies of hyponatremia in hospitalized patients.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"552-562"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Uremic leontiasis ossia (ULO) is a rare manifestation of renal osteodystrophy in) patients with end-stage chronic kidney disease (CKD) and secondary hyperparathyroidism (SHPTH). It occurs due to increased osteoclastic activity secondary to high plasmatic parathyroid hormone (PTH) levels. This leads to bone deformation with thickening and massive enlargement of the cranial vault, resulting in a leonine face appearance. Imaging such as CT scans of the head and neck can reveal bone remodeling, which aids in diagnosing ULO in patients with elevated PTH. Treatment requires a multidisciplinary approach, including medical management of SHPTH, parathyroidectomy, and osteoplasty under a maxillofacial surgery specialist to correct anatomical abnormalities.
Aim: Herein, we present a case report of a patient with ULO, demonstrating valuable insights into early recognition and multidisciplinary management of the disease.
Case report: A 39-year-old female patient with a past medical history of CKD on hemodialysis, hypertension, and SHPTH. The patient was admitted for total parathyroidectomy due to non-toxic multinodular goiter. Physical exam shows a nonpainful increasing bilateral growth of maxillary and mandibular bone, loss of nasolabial folds, and widening of the nares, resulting in a leonine appearance. Relevant laboratory exams showed a plasmatic PTH level of 4557 pg/ml. CT scan of the head and neck shows tunnel-like bones in the cranial vault consistent with ULO. The patient underwent total thyroidectomy and subtotal parathyroidectomy without complications. Laboratory exams on the first day post-surgery showed improvement in PTH plasmatic levels.
Conclusion: ULO is a rare disease and poses a diagnostic challenge. Early recognition of clinical features of ULO and elevated PTH levels in end-stage CKD patients is essential for a prompt diagnosis and appropriate treatment to avoid the consequences of ULO.
{"title":"[Uremic Leontiasis Ossea: A Challenge in End-Stage Chronic Kidney Disease. About a Case].","authors":"Valentina Burckhardt-Bravo, Antonia Bañados-Alarcón, Rodrigo Funes-Ferrada, César Caviedes-Rivera","doi":"10.4067/s0034-98872024000500634","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500634","url":null,"abstract":"<p><p>Uremic leontiasis ossia (ULO) is a rare manifestation of renal osteodystrophy in) patients with end-stage chronic kidney disease (CKD) and secondary hyperparathyroidism (SHPTH). It occurs due to increased osteoclastic activity secondary to high plasmatic parathyroid hormone (PTH) levels. This leads to bone deformation with thickening and massive enlargement of the cranial vault, resulting in a leonine face appearance. Imaging such as CT scans of the head and neck can reveal bone remodeling, which aids in diagnosing ULO in patients with elevated PTH. Treatment requires a multidisciplinary approach, including medical management of SHPTH, parathyroidectomy, and osteoplasty under a maxillofacial surgery specialist to correct anatomical abnormalities.</p><p><strong>Aim: </strong>Herein, we present a case report of a patient with ULO, demonstrating valuable insights into early recognition and multidisciplinary management of the disease.</p><p><strong>Case report: </strong>A 39-year-old female patient with a past medical history of CKD on hemodialysis, hypertension, and SHPTH. The patient was admitted for total parathyroidectomy due to non-toxic multinodular goiter. Physical exam shows a nonpainful increasing bilateral growth of maxillary and mandibular bone, loss of nasolabial folds, and widening of the nares, resulting in a leonine appearance. Relevant laboratory exams showed a plasmatic PTH level of 4557 pg/ml. CT scan of the head and neck shows tunnel-like bones in the cranial vault consistent with ULO. The patient underwent total thyroidectomy and subtotal parathyroidectomy without complications. Laboratory exams on the first day post-surgery showed improvement in PTH plasmatic levels.</p><p><strong>Conclusion: </strong>ULO is a rare disease and poses a diagnostic challenge. Early recognition of clinical features of ULO and elevated PTH levels in end-stage CKD patients is essential for a prompt diagnosis and appropriate treatment to avoid the consequences of ULO.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"634-639"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.4067/s0034-98872024000500531
Felipe Palma, Javier Contreras M, Isidora Lazcano S
Biomechanical analysis of gait encompasses the measurement of spatiotemporal (STVs), kinematics, and kinetics variables. The behavior of these variables can provide clinicians and researchers with insights into the normality or alteration of this motor act across different populations. However, there is a lack of reference data for the Chilean population.
Aim: To present a freely accessible database including STVs, kinematics, and joint kinetics of 51 healthy Chilean individuals during gait.
Methods: 51 healthy volunteers aged 18-30 years were included in the sample. The MOCAP Vicon system with the Plug-in Gait Lower Body Functional model was utilized for biomechanical model creation and analysis. At least five valid gait trials per individual were recorded at a self-selected speed, with participants stepping on embedded force platforms. Based on this information, STVs, kinematics, and joint kinetics were computed. These data were graphically represented for each plane, utilizing the average value of both lower extremities.
Results: The findings were summarized in a table and five distinct figures. The variables of interest were exported and made available in ".csv" format on the Figshare platform (DOI: https://doi.org/10.6084/m9.figshare.22151474). Similarities in morphology and magnitude were observed compared to other databases from foreign studies.
Conclusion: Data regarding STVs, kinematics, and kinetics of gait in the Chilean population are provided, facilitating future research and clinical applications in this demographic.
{"title":"[A Public Database of biomechanical parameters of gait in young Chileans].","authors":"Felipe Palma, Javier Contreras M, Isidora Lazcano S","doi":"10.4067/s0034-98872024000500531","DOIUrl":"https://doi.org/10.4067/s0034-98872024000500531","url":null,"abstract":"<p><p>Biomechanical analysis of gait encompasses the measurement of spatiotemporal (STVs), kinematics, and kinetics variables. The behavior of these variables can provide clinicians and researchers with insights into the normality or alteration of this motor act across different populations. However, there is a lack of reference data for the Chilean population.</p><p><strong>Aim: </strong>To present a freely accessible database including STVs, kinematics, and joint kinetics of 51 healthy Chilean individuals during gait.</p><p><strong>Methods: </strong>51 healthy volunteers aged 18-30 years were included in the sample. The MOCAP Vicon system with the Plug-in Gait Lower Body Functional model was utilized for biomechanical model creation and analysis. At least five valid gait trials per individual were recorded at a self-selected speed, with participants stepping on embedded force platforms. Based on this information, STVs, kinematics, and joint kinetics were computed. These data were graphically represented for each plane, utilizing the average value of both lower extremities.</p><p><strong>Results: </strong>The findings were summarized in a table and five distinct figures. The variables of interest were exported and made available in \".csv\" format on the Figshare platform (DOI: https://doi.org/10.6084/m9.figshare.22151474). Similarities in morphology and magnitude were observed compared to other databases from foreign studies.</p><p><strong>Conclusion: </strong>Data regarding STVs, kinematics, and kinetics of gait in the Chilean population are provided, facilitating future research and clinical applications in this demographic.</p>","PeriodicalId":101370,"journal":{"name":"Revista medica de Chile","volume":"152 5","pages":"531-541"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142934364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}