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3.
Anticancer Res ; 44(5): 1955-1962, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38677771

RESUMO

BACKGROUND/AIM: The epidermal growth factor receptor (EGFR) is over-expressed in several types of cancer, and monoclonal antibody therapy has been the strategy that has shown the best results. This study focused on the construction of a humanized single chain antibody (huscFv) directed against EGFR (HER1). MATERIALS AND METHODS: The CDR grafting method was used to incorporate murine complementarity determining regions (CDRs) of cetuximab into human sequences. A dot blot assay was used to examine the affinity of the huscFv secreted by HEK293T for EGFR. The inhibitory effect on the viability of A549 cells was evaluated using the WST-1 assay. RESULTS: The incorporation of murine CDRs of cetuximab into human sequences increased the degree of humanness by 16.4%. The increase in the humanization of scFv did not affect the affinity for EGFR. Metformin had a dose-dependent effect, with an IC50 of 46 mM, and in combination with huscFv, the cell viability decreased by 45% compared to the 15% demonstrated by huscFv alone. CONCLUSION: The CDR grafting technique is efficient for the humanization of scFv, maintaining its affinity for EGFR and demonstrating its inhibitory effect when combined with metformin in A549 cells.


Assuntos
Cetuximab , Receptores ErbB , Metformina , Anticorpos de Cadeia Única , Animais , Humanos , Camundongos , Células A549/efeitos dos fármacos , Anticorpos Monoclonais Humanizados/farmacologia , Sobrevivência Celular/efeitos dos fármacos , Cetuximab/farmacologia , Regiões Determinantes de Complementaridade/imunologia , Receptores ErbB/imunologia , Receptores ErbB/antagonistas & inibidores , Células HEK293 , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/imunologia , Metformina/farmacologia , Anticorpos de Cadeia Única/farmacologia , Anticorpos de Cadeia Única/imunologia
4.
Toxins (Basel) ; 16(3)2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38535808

RESUMO

Central America is home to one of the most abundant herpetofauna in the Americas, occupying only 7% of the continent's total area. Vipers and lizards are among the most relevant venomous animals in medical practice due to the consequences of envenomation from the bite of these animals. A great diversity of biomolecules with immense therapeutic and biotechnological value is contained in their venom. This paper describes the prominent leading representatives of the family Viperidae, emphasizing their morphology, distribution, habitat, feeding, and venom composition, as well as the biotechnological application of some isolated components from the venom of the animals from these families, focusing on molecules with potential anti-thrombotic action. We present the leading protein families that interfere with blood clotting, platelet activity, or the endothelium pro-thrombotic profile. In conclusion, Central America is an endemic region of venomous animals that can provide many molecules for biotechnological applications.


Assuntos
Trombose , Animais , América Central , Coagulação Sanguínea , Biotecnologia , Plaquetas
6.
Cardiol Young ; 34(2): 314-318, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37403735

RESUMO

The use of prostaglandin E1 is well documented in ductus arteriosus-dependent CHD or in neonatal pulmonary pathologies that cause severe pulmonary hypertension. The intravenous infusion is well established in loading infusion and maintenance with an onset of action of 30 minutes until 2 hours or even more. Our aim is to report three patients with pulmonary atresia that presented hypercyanotic spell due to a ductal spasm during cardiac catheterisation in whom the administration of a bolus of alprostadil reversed the spasm and increased pulmonary flow, immediately stabilising the condition of the patients allowing subsequent successful stent placement with no serious complications or sequelae after the administration of the bolus. More studies are needed to make a recommendation regarding the use of alprostadil in bolus in cases where the ductal spasm might jeopardise the life of the patient.


Assuntos
Permeabilidade do Canal Arterial , Canal Arterial , Cardiopatias Congênitas , Recém-Nascido , Humanos , Alprostadil/uso terapêutico , Permeabilidade do Canal Arterial/tratamento farmacológico , Espasmo
7.
Heliyon ; 9(9): e19642, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37810128

RESUMO

In recent years, the avocado has been one of the most dynamic fruits in the world market. In particular, cv. Hass stands out due to its productivity, nutritional quality, and acceptance. Under tropical conditions, weather elements, especially air temperature, and precipitation, affect the productivity and quality of cv. Hass. However, in tropical environments, many relationships between weather and phenological aspects of this cultivar are still unknown. Given this situation, our aim was to identify the variation and degree of association between the phenology of avocado cv. Hass and thermal time (TT) under low-latitude conditions. Eight commercial fields planted with cv. Hass grafted onto Antillean genotypes, located in an altitudinal transect between 1,700 and 2,500 m, were evaluated. The evaluation was carried out for three years and was focused on determining the differences in avocado phenological patterns associated with different environmental variables monitored by weather stations at each location. Air temperature data were used to calculate the base temperature (BT) using different methods for all phenological stages. Later the TT was determined for each stage and all locations. The results show that the duration of each phenological stage varies as a function of elevation (air temperature) and that the phenological stages overlap at the regional, crop field, and plant levels at different periods of the year, generating a high phenological variability but with specific patterns associated with temperature and precipitation. The BT for each phenological stage varied between 0.3 and 7.5 °C, and TT was found to vary depending on the method of calculation. Our work suggests that the generalization of a BT of 10 °C is not applicable for avocado cv. Hass crops under tropical conditions, specifically in the case of Colombia. Detailed studies of phenological relationships with respect to climatic variables will allow a better approximation of the productive behavior of avocado cv. Hass.

8.
Cardiol Young ; 33(12): 2649-2650, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37905344

RESUMO

Ten-day-old neonate who underwent correction of interrupted aortic arch developed a giant early post-surgical aneurysm. To our knowledge, this unusual complication has been only reported as a late complication.


Assuntos
Aneurisma , Coartação Aórtica , Lactente , Recém-Nascido , Humanos , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Coartação Aórtica/cirurgia
9.
Int J Mol Sci ; 24(18)2023 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-37762277

RESUMO

Aberrant expression of the tight junction protein claudin 6 (CLDN6) is a hallmark of gastric cancer progression. Its expression is regulated by the cAMP response element-binding protein (CREB). In gastric cancer induced by Helicobacter pylori (H. pylori) there is no information regarding what transcription factors induce/upregulate the expression of CLDN6. We aimed to identify whether CREB and Yin Yang1 (YY1) regulate the expression of CLDN6 and the site where they bind to the promoter sequence. Bioinformatics analysis, H. pylori lipopolysaccharide (LPS), YY1 and CREB silencing, Western blot, luciferase assays, and chromatin immunoprecipitation experiments were performed using the stomach gastric adenocarcinoma cell line AGS. A gen reporter assay suggested that the initial 2000 bp contains the regulatory sequence associated with CLDN6 transcription; the luciferase assay demonstrated three different regions with transcriptional activity, but the -901 to -1421 bp region displayed the maximal transcriptional activity in response to LPS. Fragment 1279-1421 showed CREB and, surprisingly, YY1 occupancy. Sequential Chromatin Immunoprecipitation (ChIP) experiments confirmed that YY1 and CREB interact in the 1279-1421 region. Our results suggest that CLDN6 expression is regulated by the binding of YY1 and CREB in the 901-1421 enhancer, in which a non-described interaction of YY1 with CREB was established in the 1279-1421 region.


Assuntos
Adenocarcinoma , Helicobacter pylori , Neoplasias Gástricas , Humanos , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Lipopolissacarídeos/farmacologia , Fator de Transcrição YY1/genética
10.
Rev Med Inst Mex Seguro Soc ; 61(2): 251-255, 2023 Mar 01.
Artigo em Espanhol | MEDLINE | ID: mdl-37200622

RESUMO

Background: The indiscriminate application of substances for aesthetic purposes, such as silicone in breast implants, leads to the production of common local signs such as inflammation, skin irregularities, edema, erythema, vascular neoformations, and ulcers, which can evolve into general symptoms such as fever, asthenia, weakness, arthralgia or activate the immune system abnormally, causing the appearance of autoimmune diseases. This set of signs and symptoms is called adjuvant-induced autoimmune/inflammatory syndrome. Clinical case: We present the case of a 50-year-old woman with a history of silicone-based breast implants who spontaneously developed a hemorrhagic coagulopathy, type A acquired hemophilia was documented, that is, autoantibodies against coagulation factor VIII. Thanks to the work of a multidisciplinary team, it is possible to successfully diagnose and treat the patient with bridging agents, implant removal and management of associated symptoms. Conclusion: the importance of knowing the pathology is recognized, which, although it is rare, when it occurs has a high mortality rate if it is not diagnosed and treated on time.


Introducción: la aplicación de sustancias con fines estéticos de forma indiscriminada, como es el caso de la silicona en los implantes mamarios, llevan a la producción de signos locales comunes como: inflamación, irregularidad en la piel, edema, eritema, neoformaciones vasculares y úlceras, que pueden evolucionar a síntomas generales como la fiebre, astenia, adinamia, artralgias o a activar, de manera anómala, el sistema inmunitario, causando la aparición de enfermedades autoinmunitarias. A este conjunto de signos y síntomas se le denomina síndrome autoinmunitario/inflamatorio inducido por adyuvantes. Caso clínico: presentamos el caso de una mujer de 50 años con antecedente de implantes mamarios a base de silicona que desarrolla, de manera espontánea, una coagulopatía hemorrágica, se documenta hemofilia tipo A adquirida, es decir, autoanticuerpos contra el factor VIII de la coagulación. Gracias al trabajo de un equipo multidisciplinario se consigue diagnosticar y tratar de manera exitosa a la paciente con agentes de puente, remoción de los implantes y manejo de los síntomas asociados. Conclusión: se reconoce la importancia de conocer la patología que, si bien es rara, cuando se presenta tiene alta tasa de mortalidad si no se diagnostica y trata a tiempo.


Assuntos
Doenças Autoimunes , Implantes de Mama , Feminino , Humanos , Pessoa de Meia-Idade , Implantes de Mama/efeitos adversos , Síndrome , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Inflamação/complicações , Adjuvantes Imunológicos/efeitos adversos , Silicones/efeitos adversos
11.
Eur Heart J Case Rep ; 7(4): ytad155, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37078071

RESUMO

Background: Congenital aortic diseases (CAoD) encompass a wide variety of disorders that range from asymptomatic findings to life-threatening conditions. Multiple imaging techniques are available for the assessment of CAoD. Case summary: We present seven case reports of congenital aortic diseases, including obstructions in the aortic arch (coarctation, hypoplasia, and interruption) and vascular rings, in which the clinical manifestations throughout the cases are discussed, highlighting the heterogeneity of the symptoms. Discussion: Multi-imaging techniques are indispensable for the assessment of CAoD, where cardiac computed tomography angiography is the main modality for rapid acquisition of three-dimensional volume-rendered images for optimal surgical planning.

12.
Lipids Health Dis ; 22(1): 43, 2023 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-36978188

RESUMO

BACKGROUND AND AIM: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is a polygenic disorder and the most frequent cause of chylomicronemia, which results from the presence of multiple genetic variants related to chylomicron metabolism, in addition to secondary factors. Indeed, the genetic determinants that predispose to MCS are the presence of a heterozygous rare variant or an accumulation of several SNPs (oligo/polygenic). However, their clinical, paraclinical, and molecular features are not well established in our country. The objective of this study was to describe the development and results of a screening program for severe hypertriglyceridemia in Colombia. METHODS: A cross-sectional study was performed. All patients aged >18 years with triglyceride levels ≥500 mg/dL from 2010 to 2020 were included. The program was developed in three stages: 1. Review of electronic records and identification of suspected cases based on laboratory findings (triglyceride levels ≥500 mg/dL); 2. Identification of suspected cases based on laboratory findings that also allowed us to exclude secondary factors; 3. Patients with FCS scores <8 were excluded. The remaining patients underwent molecular analysis. RESULTS: In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard deviation [SD] 335.9 mg/dL). After applying the FCS score, 2.4% (n = 18) of patients met the probable case definition and underwent a molecular test. Additionally, 7 patients had unique variants in the APOA5 gene (c.694 T > C; p. Ser232Pro) or in the GPIHBP1 gene (c.523G > C; p. Gly175Arg), for an apparent prevalence of familial chylomicronemia in the consulting population of 0.41 per 1.000 patients with severe HTG measurement. No previously reported pathogenic variants were detected. CONCLUSION: This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 gene, we diagnosed only one patient with FCS. We believe that more programs of these characteristics should be developed in our region, given the importance of early detection of this metabolic disorder.


Assuntos
Hiperlipoproteinemia Tipo IV , Hiperlipoproteinemia Tipo I , Hipertrigliceridemia , Humanos , Masculino , Pessoa de Meia-Idade , Hiperlipoproteinemia Tipo I/diagnóstico , Hiperlipoproteinemia Tipo I/genética , Estudos Transversais , Lipase Lipoproteica/genética , Colômbia/epidemiologia , Hipertrigliceridemia/epidemiologia , Hipertrigliceridemia/genética , Hipertrigliceridemia/complicações , Triglicerídeos , Quilomícrons
13.
Oral Maxillofac Surg ; 27(1): 151-161, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35064843

RESUMO

PURPOSE: The selection of candidates for buccal fat pad (BFP) removal depends on the patient's requirements, the subjective surgeons' evaluation, and objective clinical factors. This cross-sectional observational study aimed to identify objective clinical and ultrasonographic parameters as indicators of cheek contouring with BFP excision. METHODS: Sixty-six patients with cheek fullness complaints were examined by two experienced surgeons to determine if they were good candidates for the procedure. Thereafter, participants underwent clinical and ultrasonographic assessments in a separate session to aid in the surgical decision-making. The association between the clinical judgment for BFP excision and the study variables was analyzed individually and adjusted for confounders using binary logistic regression and grouping analyses. RESULTS: Forty-nine participants were regarded as suitable and 17 as non-suitable for the procedure. After regression analysis, cheek skin-fold thickness > 6.00 mm, midfacial contour > 2.20 mm, ovoid/triangular facial form, and ultrasonographic BFP volume > 2.05 mL remained as robust individual indicators for the suitability for the procedure. However, the grouping analysis showed that patients having three-to-four significant criteria synchronously had significantly higher odds for eligibility with excellent discrimination capability. CONCLUSION: Although high values of cheek skin-fold thickness, midfacial contour, and ultrasonographic BFP volume, as well as an ovoid/triangular facial form, might be robust indicators for the suitability for BFP excision, the surgical decision-making should not be based on isolated parameters. Instead, those patients possessing a combination of at least three of these specific eligibility criteria above the threshold value might be considered the best candidates for the procedure.


Assuntos
Tecido Adiposo , Estética Dentária , Humanos , Tecido Adiposo/cirurgia , Estudos Transversais , Face , Bochecha/diagnóstico por imagem , Bochecha/cirurgia
14.
Plants (Basel) ; 11(21)2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36365373

RESUMO

Bio-formulation technologies have a limited impact on agricultural productivity in developing countries, especially those based on plant growth-promoting rhizobacteria. Thus, calcium alginate microbeads were synthesized and used for the protection and delivery of three beneficial Bacillus strains for agricultural applications. The process of encapsulation had a high yield per gram for all bacteria and the microbeads protected the Bacillus strains, allowing their survival, after 12 months of storage at room temperature. Microbead analysis was carried out by observing the rate of swelling and biodegradation of the beads and the released-establishment of bacteria in the soil. These results showed that there is an increase of around 75% in bead swelling on average, which allows for larger pores, and the effective release and subsequent establishment of the bacteria in the soil. Biodegradation of microbeads in the soil was gradual: in the first week, they increased their weight (75%), which consistently results in the swelling ratio. The co-inoculation of the encapsulated strain TRQ8 with the other two encapsulated strains showed plant growth promotion. TRQ8 + TRQ65 and TRQ8 + TE3T bacteria showed increases in different biometric parameters of wheat plants, such as stem height, root length, dry weight, and chlorophyll content. Thus, here we demonstrated that the application of alginate microbeads containing the studied strains showed a positive effect on wheat plants.

15.
Toxins (Basel) ; 14(11)2022 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-36356016

RESUMO

BmooMPα-I has kininogenase activity, cleaving kininogen releasing bradykinin and can hydrolyze angiotensin I at post-proline and aspartic acid positions, generating an inactive peptide. We evaluated the antihypertensive activity of BmooMPα-I in a model of two-kidney, one-clip (2K1C). Wistar rats were divided into groups: Sham, who underwent sham surgery, and 2K1C, who suffered stenosis of the right renal artery. In the second week of hypertension, we started treatment (Vehicle, BmooMPα-I and Losartan) for two weeks. We performed an electrocardiogram and blood and heart collection in the fourth week of hypertension. The 2K1C BmooMPα-I showed a reduction in blood pressure (systolic pressure: 131 ± 2 mmHg; diastolic pressure: 84 ± 2 mmHg versus 174 ± 3 mmHg; 97 ± 4 mmHg, 2K1C Vehicle, p < 0.05), improvement in electrocardiographic parameters (Heart Rate: 297 ± 4 bpm; QRS: 42 ± 0.1 ms; QT: 92 ± 1 ms versus 332 ± 6 bpm; 48 ± 0.2 ms; 122 ± 1 ms, 2K1C Vehicle, p < 0.05), without changing the hematological profile (platelets: 758 ± 67; leukocytes: 3980 ± 326 versus 758 ± 75; 4400 ± 800, 2K1C Vehicle, p > 0.05), with reversal of hypertrophy (left ventricular area: 12.1 ± 0.3; left ventricle wall thickness: 2.5 ± 0.2; septum wall thickness: 2.3 ± 0.06 versus 10.5 ± 0.3; 2.7 ± 0.2; 2.5 ± 0.04, 2K1C Vehicle, p < 0.05) and fibrosis (3.9 ± 0.2 versus 7.4 ± 0.7, 2K1C Vehicle, p < 0.05). We concluded that BmooMPα-I improved blood pressure levels and cardiac remodeling, having a cardioprotective effect.


Assuntos
Bothrops , Venenos de Crotalídeos , Hipertensão Renovascular , Animais , Ratos , Pressão Sanguínea , Venenos de Crotalídeos/farmacologia , Frequência Cardíaca , Hipertensão Renovascular/tratamento farmacológico , Metaloproteases/farmacologia , Ratos Wistar , Remodelação Ventricular
16.
JACC Case Rep ; 4(22): 1504-1508, 2022 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-36444188

RESUMO

Gaucher type 3C disease with porcelain aorta can cause severe hemodynamic impairment. We report the first case, to our knowledge, of a 13-year-old Mexican girl with a GBA1 homozygous c.1342G>C [p.Asp448His] (commonly known as p.D409H) pathogenic variant who underwent extensive aortic replacement. She has been on enzyme replacement therapy and is alive 5 years after surgery. (Level of Difficulty: Intermediate.).

17.
Biomedica ; 42(Sp. 1): 89-99, 2022 05 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35866733

RESUMO

Introduction: Spinal muscular atrophy is a rare genetic neurodegenerative disorder affecting the motor neurons of the anterior horn of the spinal cord, which results in muscle atrophy and weakness. In Colombia, few studies have been published on the pathology and none with functional analysis. Objective: To characterize clinically and functionally some cases of spinal muscular atrophy patients from Central-Western Colombia. Materials and methods: We conducted a cross-sectional descriptive study between 2007 and 2020 with patients clinically and molecularly diagnosed with spinal muscular atrophy who attended a care center. For the functional assessment we used the Hammersmith and Chop-Intend scales and the data were systematized with the Epi-Info, version 7.0 software. Results: We analyzed 14 patients (42.8 % men). The most prevalent spinal muscular atrophy was type II with 71.4 %. We found phenotypic variability in terms of functionality in some patients with type II spinal muscular atrophy, 37.5 % of whom reached gait. Survival was estimated at 28.6 years. Conclusions: The findings in the group of patients analyzed revealed that the scores of the revised and expanded Hammersmith scales correlated with the severity of SMA.


Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular. En Colombia, son pocos los estudios publicados sobre la enfermedad y no hay ninguno con análisis funcional. Objetivo. Caracterizar clínica y funcionalmente una serie de casos de atrofia muscular espinal del centro-occidente colombiano. Materiales y métodos. Se hizo un estudio descriptivo transversal, entre el 2007 y el 2020, de pacientes con diagnóstico clínico y molecular de atrofia muscular espinal que consultaron en el centro de atención. La evaluación funcional se realizó con las escalas Hammersmith y Chop Intend. En la sistematización de los datos, se empleó el programa Epi-Info, versión 7.0. Resultados. Se analizaron 14 pacientes: 8 mujeres y 6 hombres. La atrofia muscular espinal más prevalente fue la de tipo II, la cual se presentó en 10 casos. Se encontró variabilidad fenotípica en términos de funcionalidad en algunos pacientes con atrofia muscular espinal de tipo II, cinco de los cuales lograron alcanzar la marcha. La estimación de la supervivencia fue de 28,6 años. Conclusiones. Los hallazgos en el grupo de pacientes analizados evidenciaron que los puntajes de la escala de Hammersmith revisada y expandida, concordaron con la gravedad de la enfermedad.


Assuntos
Atrofia Muscular Espinal , Colômbia/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Estudos Retrospectivos
18.
Biomédica (Bogotá) ; Biomédica (Bogotá);42(supl.1): 89-99, mayo 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1393998

RESUMO

Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular. En Colombia, son pocos los estudios publicados sobre la enfermedad y no hay ninguno con análisis funcional. Objetivo. Caracterizar clínica y funcionalmente una serie de casos de atrofia muscular espinal del centro-occidente colombiano. Materiales y métodos. Se hizo un estudio descriptivo transversal, entre el 2007 y el 2020, de pacientes con diagnóstico clínico y molecular de atrofia muscular espinal que consultaron en el centro de atención. La evaluación funcional se realizó con las escalas Hammersmith y Chop Intend. En la sistematización de los datos, se empleó el programa Epi-Info, versión 7.0. Resultados. Se analizaron 14 pacientes: 8 mujeres y 6 hombres. La atrofia muscular espinal más prevalente fue la de tipo II, la cual se presentó en 10 casos. Se encontró variabilidad fenotípica en términos de funcionalidad en algunos pacientes con atrofia muscular espinal de tipo II, cinco de los cuales lograron alcanzar la marcha. La estimación de la supervivencia fue de 28,6 años. Conclusiones. Los hallazgos en el grupo de pacientes analizados evidenciaron que los puntajes de la escala de Hammersmith revisada y expandida, concordaron con la gravedad de la enfermedad.


Introduction: Spinal muscular atrophy is a rare genetic neurodegenerative disorder affecting the motor neurons of the anterior horn of the spinal cord, which results in muscle atrophy and weakness. In Colombia, few studies have been published on the pathology and none with functional analysis. Objective: To characterize clinically and functionally some cases of spinal muscular atrophy patients from Central-Western Colombia. Materials and methods: We conducted a cross-sectional descriptive study between 2007 and 2020 with patients clinically and molecularly diagnosed with spinal muscular atrophy who attended a care center. For the functional assessment we used the Hammersmith and Chop-Intend scales and the data were systematized with the Epi-Info, version 7.0 software. Results: We analyzed 14 patients (42.8 % men). The most prevalent spinal muscular atrophy was type II with 71.4 %. We found phenotypic variability in terms of functionality in some patients with type II spinal muscular atrophy, 37.5 % of whom reached gait. Survival was estimated at 28.6 years. Conclusions: The findings in the group of patients analyzed revealed that the scores of the revised and expanded Hammersmith scales correlated with the severity of SMA.


Assuntos
Atrofia Muscular Espinal , Especialidade de Fisioterapia , Doenças Raras
19.
Front Cardiovasc Med ; 9: 1070378, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36712274

RESUMO

This report describes a rare case of a global myocardial infarction caused by severe vasospasm of the coronary arteries secondary to the administration of pyridostigmine in a patient with polyarteritis nodosa (PAN). Details about the clinical presentation, the typical electrocardiographic pattern of multivessel disease, the differential diagnoses suspected in the multi-imaging approach, and the treatment of cardiogenic shock are described. The definitive diagnosis of infarction and the histopathological findings compatible with polyarteritis nodosa were made by autopsy.

20.
Coluna/Columna ; 21(1): e259475, 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1364769

RESUMO

ABSTRACT Objective: To report the results of our patients who underwent scoliosis correction surgery in relation to their quality of life. Introduction: Juvenile idiopathic scoliosis affects between 1 and 3% of the population during puberty. Treatment will be conservative in most cases. The goal of surgical treatment is to improve coronal and sagittal alignment. The SRS 22 questionnaire is a useful tool for assessing quality of life in these patients. Methods: A retrospective study of 22 patients submitted to corrective surgery for juvenile idiopathic scoliosis between October 2017 and January 2020 was conducted. All of them had curves greater than 45 degrees managed through instrumentation and arthrodesis. Post-surgical quality of life was assessed using the SRS 22 questionnaire. Results: The average age of our patients at the time of the intervention was 15.5 years with a predominance of female patients. The application of the SRS 22 questionnaire generated the following mean scores: pain 4.6, function 4.3, self-image 4.41, mental health 4.89, and satisfaction 5.0. Conclusions: The development of surgical techniques has allowed good results to be achieved in the treatment of scoliosis. The evaluation of our patients using the SRS 22 questionnaire reflects a good quality of life in the 5 parameters evaluated. The main limitations of this study were the small sample size and its retrospective nature. Level of Evidence III; Retrospective, longitudinal, descriptive, observational study.


RESUMO Objetivo: Relatar os resultados de nossos pacientes operados para correção de escoliose com relação à sua qualidade de vida. Introdução: A escoliose idiopática juvenil afeta entre 1% e 3% da população durante a puberdade. O tratamento será conservador na maioria dos casos. O tratamento cirúrgico terá como objetivo melhorar o alinhamento coronal e sagital. O questionário SRS 22 é uma ferramenta útil para avaliar a qualidade de vida desses pacientes. Métodos: Foi realizado um estudo retrospectivo de 22 pacientes operados entre outubro de 2017 e janeiro de 2020 devido à escoliose idiopática juvenil. Todos tinham curvas superiores a 45 graus tratadas com instrumentação e artrodese. A qualidade de vida pós-operatória foi avaliada por meio do questionário SRS-22. Resultados: A média de idade dos nossos pacientes no momento da intervenção foi 15,5 anos, com predominância do sexo feminino. A aplicação do questionário SRS-22 gerou os seguintes escores médios: dor 4,6; função 4,3; autoimagem 4,41; saúde mental 4,89 e satisfação 5,0. Conclusões: O desenvolvimento das técnicas cirúrgicas permitiu obter bons resultados no tratamento da escoliose. A avaliação de nossos pacientes por intermédio do questionário SRS 22 reflete boa qualidade de vida nos cinco parâmetros avaliados. As principais limitações deste estudo foram o pequeno tamanho da amostra e seu caráter retrospectivo. Nível de Evidência III; Estudo retrospectivo, longitudinal, descritivo, observacional.


RESUMEN Objetivo: Reportar los resultados de nuestros pacientes operados para corrección de escoliosis en relación a su calidad de vida. Introducción: La escoliosis idiopática juvenil afecta entre el 1% y 3% de la población durante la pubertad. El tratamiento será, en la mayoría, de los casos conservador. El tratamiento quirúrgico tendrá como objetivo mejorar la alineación coronal y sagital. El cuestionario SRS 22 es una herramienta útil para la valoración de la calidad de vida en estos pacientes. Métodos: Se realizó un estudio retrospectivo de 22 pacientes intervenidos entre octubre de 2017 y enero de 2020 debido a la escoliosis idiopática juvenil. Todos tenían curvas mayores de 45 grados manejadas mediante instrumentación y artrodesis. Se realizó la evaluación de la calidad de vida posquirúrgica mediante el cuestionario SRS-22. Resultados: La edad promedio de nuestros pacientes en el momento de la intervención fue de 15,5 años con predominio de pacientes del sexo femenino. La aplicación del cuestionario SRS-22 generó las siguientes puntuaciones medias: dolor 4,6; función 4,3; autoimagen 4,41; salud mental 4,89 y satisfacción 5,0. Conclusiones: El desarrollo de las técnicas quirúrgicas ha permitido obtener buenos resultados en el tratamiento de la escoliosis. La evaluación de nuestros pacientes mediante el cuestionario SRS 22 refleja una buena calidad de vida en los 5 parámetros evaluados. Las limitaciones principales de este estudio han sido el pequeño tamaño de la muestra y su carácter retrospectivo. Nivel de Evidencia III; Estudio retrospectivo, longitudinal, descriptivo, observacional.


Assuntos
Humanos , Adolescente , Escoliose , Ortopedia
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