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1.
Rev. cienc. salud (Bogotá) ; 22(2): 1-15, 20240531.
Artículo en Español | LILACS | ID: biblio-1555035

RESUMEN

Introducción: la fragilidad, entendida como un estado previo a la discapacidad, confiere mayor vulnerabi-lidad a estresores externos y contribuye a desenlaces negativos como caídas, hospitalización, discapacidad y mortalidad. El objetivo de este estudio fue identificar su prevalencia y evaluar los factores asociados en los pacientes del Servicio Ambulatorio de Geriatría del Hospital Universitario San Ignacio (husi) en Bogotá (Colombia). Materiales y métodos: estudio de corte transversal con 689 pacientes atendidos en la consulta externa de geriatría del husi entre agosto de 2016 y marzo de 2020. Mediante regresiones logísticas se iden-tificaron los factores relacionados con la fragilidad. Resultados: la prevalencia fue del 35.4 %. En el análisis bivariado, las variables asociadas con la fragilidad fueron edad mayor de 80 años (or: 2.07; ic95 %: 1.40-3.20; p = 0.001), sexo femenino (or: 1.40; ic95 %: 0.99-2.02; p = 0.03), multimorbilidad (or: 2.13; ic95 %: 1.40-2.90; p < 0.001) y malnutrición (or: 2.23; ic95 %: 1.22-4.07; p = 0.009). En el análisis multivariado, la multimor-bilidad (or: 2.46; ic95 %: 1.62-3.75; p = 0.001), la velocidad de la marcha lenta (or: 5.15; ic95 %: 3.0-8.60; p = 0.001) y el perímetro de pantorrilla bajo (or: 1.60; ic95 %: 1.03-2.50; p = 0.06) se vincularon con la fragilidad. Conclusión: la prevalencia de fragilidad en el servicio de geriatría del husies mayor a la de los referentes nacionales; adicionalmente, las variables analizadas coinciden con las encontradas en la literatura; todo esto respecto a la gran complejidad clínica de los pacientes. Es clave la detección de los factores que se asocian con fragilidad, a fin de intervenirlos y prevenir desenlaces adversos


Introduction: Frailty, understood as a pre-disability state, increases vulnerability to external stressors and contributes to negative outcomes such as falls, hospitalization, disability, and mortality. This study aims to identify the prevalence of frailty and assess the associated factors in patients attending the geriatric outpatient service of the Hospital Universitario San Ignacio (husi). Materials and methods: A cross-sectional study involving 689 patients treated at the husigeriatric outpatient clinic between August 2016 and March 2020. Logistic regressions were conducted to identify factors associated with frailty. Results: The prevalence of frailty was 35.4 %. In bivariate analysis, variables associated with frailty included age over 80 years (or: 2.07; ci95 %: 1.40-3.20; p = 0.001), female sex (or: 1.40; ci95 %:0.99-2.02; p= 0.03), multimorbidity (or: 2.13; ci95 %:1.40-2.90; p < 0.001) and malnutrition (or: 2.23; ci95 %: 1.22-4.07; p = 0.009). In multivariate analysis, multimorbidity (or: 2.46; ci95 %: 1.62-3.75; p = 0.001), slow walking speed (or: 5.15; ci95 %: 3.0-8.60; p = 0.001) and low calf perimeter (or: 1.60; ci95 %: 1.03-2.50; p = 0.06) were associated with frailty. Conclusion: The prevalence of frailty in our center exceeds national references; and the identified variables align with those reported in the literature; reflecting the considerable clin-ical complexity of our patients. Detecting factors associated with frailty is crucial for intervention and prevention of adverse outcomes


ntrodução: a fragilidade, entendida como um estado anterior à incapacidade, confere maior vulnerabi-lidade a estressores externos e contribui para desfechos negativos como quedas, hospitalização, incapa-cidade e mortalidade. O objetivo deste estudo foi identificar a prevalência e avaliar os fatores associados à fragilidade em pacientes do ambulatório de geriatria do Hospital Universitário San Ignacio (husi) de Bogotá, Colômbia. Materiais e métodos: estudo transversal com 689 pacientes atendidos no ambulatório de geriatria do husi entre agosto de 2016 e março de 2020. Foram realizadas regressões logísticas para identificar fatores associados à fragilidade. Resultados: a prevalência de fragilidade foi de 35.4 %. Na análise bivariada, as variáveis associadas à fragilidade foram: idade acima de 80 anos (or:2.07; ic95 %:1.40-3,20; p = 0.001), gênero feminino (or:1.40; ic95 %:0.99-2.02; p = 0.03), multimorbidade (or: 2.13; ic95 %: 1.40-2.90; p < 0.001) e desnutrição (or:2.23; ic95 %:1.22-4.07; p = 0.009). Na análise multivariada, multimorbidade (or:2.46; ic95 %: 1.62-3.75; p = 0.001), velocidade lenta de caminhada (or:5.15; ic95 %:3.0-8.60; p = 0.001) e baixa circunferência da panturrilha (or: 1.60; ic95 %: 1.03-2.50; p = 0.06) foram associados à fragilidade. Conclusão: a prevalência de fragilidade no husi é superior à das referências nacionais; adicionalmente, as variáveis associadas coincidem com as encontradas na literatura; tudo isso em relação à grande complexidade clínica dos nossos pacientes. É fundamental detectar os fatores associados à fragilidade para intervir e prevenir resultados adversos


Asunto(s)
Humanos , Anciano Frágil , Medicina Hospitalar
2.
Rev. chil. infectol ; Rev. chil. infectol;41(2): 282-290, abr. 2024. ilus, tab
Artículo en Español | LILACS | ID: biblio-1559682

RESUMEN

INTRODUCCIÓN: La rickettsiosis, enfermedad potencialmente mortal, es trasmitida por vectores como Rhipicephalus sanguineus, Dermacentor variabilis y D. andersonii, reservorios de Rickettsia rickettsii. En Baja California, México, es endémica, multifactorial, tiene alta letalidad, sus manifestaciones clínicas inespecíficas y ataque multisistémico dificultan el diagnóstico y tratamiento oportuno. OBJETIVO: Identificar los factores de riesgo asociados a la letalidad por rickettsiosis trasmitida por garrapatas en Mexicali, Baja California. PACIENTES Y MÉTODOS : Estudio observacional, analítico, transversal, retrospectivo, de 40 registros de pacientes con diagnóstico confirmado de rickettsiosis, periodo 2014 a 2018. Variables analizadas: sociodemográficas, clínicas, laboratorio clínico, evolución y desenlace. Se reportan frecuencias y medidas de asociación. RESULTADOS: 24 defunciones y 16 vivos. Más de 90% tuvo contacto conocido con garrapatas. Afectó en su mayoría a < 45 años en ambos grupos. La evolución antes del ingreso fue similar y la estancia hospitalaria fue mayor en los pacientes vivos (3,2 ± 4.7 vs 10,62 ± 7,6 p = 0,0002). Fiebre, cefalea, mialgias fueron predominantes. Datos asociados con letalidad: disfunción respiratoria (OR 38,33 IC95% 4,06-361,3 p < 0,0001), creatinina elevada (OR 15,4 IC95% 3,08-76,77 p < 0,0003), retardo del llenado capilar (OR 13,0 IC95% 2,73-61,78 p = 0,0005), dolor abdominal (OR 8,33, IC95% 1,90-36,44 p = 0,0029), AST (OR 7,5, IC95% 1,69-33,27 p = 0,005). CONCLUSIÓN: Esta enfermedad requiere de identificación temprana de factores que se asocian con letalidad para un tratamiento oportuno y adecuado.


BACKGROUND: Rickettsiosis, a potentially fatal disease, is transmitted by vectors such as Rhipicephalus sanguineus, Dermacentor variabilis and D. andersonii, reservoirs of Rickettsia rickettsii. In Baja California, Mexico, it is endemic, multifactorial, has high lethality, its nonspecific clinical manifestations and multisystem attack make diagnosis and timely treatment difficult. AIM: Identify the risk factors associated with lethality due to tick-transmitted rickettsiosis in Mexicali, Baja California. METHODS: Observational, analytical, cross-sectional, retrospective study of 40 records of patients with a confirmed diagnosis of rickettsiosis, period 2014 to 2018. Analyzed variables: sociodemographic, clinical, clinical laboratory, evolution and outcome. Frequencies and association measures are reported. RESULTS: 24 patients died and 16 survived. More than 90% had reported contact with ticks. It mostly affected ≤ 45 years in both groups. The evolution before admission was similar, and the hospital stay was longer in patients who lived (3.2 ± 4.7 vs 10.62 ± 7.6 p = 0.0002). Fever, headache, and myalgia are predominant. Data associated with lethality: respiratory dysfunction (OR 38.33 95% CI 4.06-361.3 p < 0.0001), elevated creatinine (OR 15.4 95% CI 3.08-76.77 p < 0.0003), delayed capillary refill (OR 13.0, 95% CI 2.73-61.78 p = 0.0005), abdominal pain (OR 8.33, 95% CI 1.90-36.44 p = 0.0029), AST (OR 7.5, 95% CI 1.69-33.27 p = 0.005). CONCLUSION: This disease requires early identification of factors that are associated with lethality for timely and adequate treatment.


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Infecciones por Rickettsia/mortalidad , Enfermedades por Picaduras de Garrapatas/mortalidad , Rickettsia , Infecciones por Rickettsia/tratamiento farmacológico , Estudios Transversales , Factores de Riesgo , Enfermedades por Picaduras de Garrapatas/tratamiento farmacológico , Rickettsiosis Exantemáticas , México/epidemiología , Antibacterianos/uso terapéutico
3.
HIV Med ; 25(8): 927-934, 2024 08.
Artículo en Inglés | MEDLINE | ID: mdl-38657752

RESUMEN

BACKGROUND: From October 2020 to October 2022, we conducted an implementation study to offer telemedicine (TM) across four HIV units of general public hospitals in Buenos Aires. The intervention used TM to provide a continuum of care to patients with HIV. METHODS AND SETTING: We used the RE-AIM framework to evaluate the strategy. The study started during a COVID-19 outbreak with strict lockdown policies and continued until return to normal practices. Implementation facilitation served as the core implementation strategy. RESULTS: We reached 4118 patients (58% of eligible individuals), and the main perceived benefits were the ability to avoid exposure to infectious diseases and reduced travel time and cost. After a median of 515 days of follow-up, 95.7% of participants with HIV were receiving antiretroviral therapy, and 87.8% were virally suppressed, with a median CD4+ count of 648 cells/µL. In total, 36.6% reported clinical events, and 20.4% presented with COVID-19 infection. The proportion of physicians adopting TM was 69.37%. After enrolment, 2406 of 5640 (43%) follow-up visits were conducted via TM. By the end of the study, 26.29% of appointments offered in the four centres were through TM, whereas 73.71% were in-person appointments. CONCLUSION: It was feasible to implement TM in the four centres in the public health sector in Buenos Aires, Argentina. It was acceptable for both patients and healthcare workers, and effectively reached a large proportion of the population served in these clinics. Both healthcare workers and patients consider it a model of care that will continue to be offered in the future.


Asunto(s)
COVID-19 , Infecciones por VIH , SARS-CoV-2 , Telemedicina , Humanos , COVID-19/epidemiología , COVID-19/prevención & control , Argentina/epidemiología , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , Masculino , Femenino , Adulto , Persona de Mediana Edad , Pandemias , Continuidad de la Atención al Paciente/organización & administración
4.
Viruses ; 16(2)2024 01 25.
Artículo en Inglés | MEDLINE | ID: mdl-38399957

RESUMEN

In 2019-2020, dengue virus (DENV) type 4 emerged to cause the largest DENV outbreak in Paraguay's history. This study sought to characterize dengue relative to other acute illness cases and use phylogenetic analysis to understand the outbreak's origin. Individuals with an acute illness (≤7 days) were enrolled and tested for DENV nonstructural protein 1 (NS1) and viral RNA by real-time RT-PCR. Near-complete genome sequences were obtained from 62 DENV-4 positive samples. From January 2019 to March 2020, 799 participants were enrolled: 253 dengue (14 severe dengue, 5.5%) and 546 other acute illness cases. DENV-4 was detected in 238 dengue cases (94.1%). NS1 detection by rapid test was 52.5% sensitive (53/101) and 96.5% specific (387/401) for dengue compared to rRT-PCR. DENV-4 sequences were grouped into two clades within genotype II. No clustering was observed based on dengue severity, location, or date. Sequences obtained here were most closely related to 2018 DENV-4 sequences from Paraguay, followed by a 2013 sequence from southern Brazil. DENV-4 can result in large outbreaks, including severe cases, and is poorly detected with available rapid diagnostics. Outbreak strains seem to have been circulating in Paraguay and Brazil prior to 2018, highlighting the importance of sustained DENV genomic surveillance.


Asunto(s)
Virus del Dengue , Dengue , Humanos , Virus del Dengue/genética , Dengue/diagnóstico , Dengue/epidemiología , Paraguay/epidemiología , Filogenia , Enfermedad Aguda , Genotipo , Brotes de Enfermedades
5.
Pharmaceuticals (Basel) ; 16(12)2023 Dec 09.
Artículo en Inglés | MEDLINE | ID: mdl-38139835

RESUMEN

A series of heterocyclic chloroquine hybrids, containing a chain of two carbon atoms at position four of the quinolinic chain and acting as a link between quinoline and several benzoyl groups, is synthesized and screened in vitro as an inhibitor of ß-hematin formation and in vivo for its antimalarial activity against chloroquine-sensitive strains of Plasmodium berghei ANKA in this study. The compounds significantly reduced haeme crystallization, with IC50 values < 10 µM. The values were comparable to chloroquine's, with an IC50 of 1.50 ± 0.01 µM. The compounds 4c and 4e prolonged the average survival time of the infected mice to 16.7 ± 2.16 and 14.4 ± 1.20 days, respectively. We also studied the effect of the compounds 4b, 4c, and 4e on another important human parasite, Leishmania mexicana, which is responsible for cutaneous leishmaniasis, demonstrating a potential leishmanicidal effect against promasigotes, with an IC50 < 10 µM. Concerning the possible mechanism of action of these compounds on Lesihmania mexicana, we performed experiments demonstrating that these three compounds could induce the collapse of the parasite mitochondrial electrochemical membrane potential (Δφ). The in vitro cytotoxicity assays against mammalian cancerous and noncancerous human cell lines showed that the studied compounds exhibit low cytotoxic effects. The ADME/Tox analysis predicted moderate lipophilicity values, low unbound fraction values, and a poor distribution for these compounds. Therefore, moderate bioavailability was expected. We calculated other molecular descriptors, such as the topological polar surface area, according to Veber's rules, and except for 2 and 4i, the rest of the compounds violated this descriptor, demonstrating the low antimalarial activity of our compounds in vivo.

6.
Rev. Inst. Med. Trop ; 18(2)dic. 2023.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1529464

RESUMEN

Introducción: La lepra o enfermedad de Hansen es una enfermedad infectocontagiosa, crónica, causada por el bacilo Mycobacterium leprae. Es causante de neuropatía periférica, y afecta a la piel, nervios periféricos, vías aéreas superiores y ojos. El objetivo fue evaluar las características clínicas y sociodemográficas a los pacientes con Lepra que acudieron Hospital Menonita Km 81 de Itacurubi de la Cordillera en los años 2018-2022. Material y Método: Estudio observacional descriptivo. retrospectivo, de corte transversal en pacientes con Lepra del Hospital Menonita Km 81 en la ciudad de Itacurubi de la Cordillera del Departamento de Cordillera del año 2018 al 2022. Los datos se obtuvieron de la revisión de las fichas epidemiológicas de pacientes con diagnóstico de lepra en el período abarcado en un periodo de 5 años, 2018 al 2022. Resultados: Fueron reportados 286 casos de lepra en pacientes provenientes de los 18 departamentos del Paraguay. El año con más casos detectados fue el 2019 con 79 casos, siendo el departamento de Alto Paraná con mayor incidencia con 17 casos diagnosticados, seguido del año 2018 con 76 casos. La ocupación más frecuente de los pacientes fue la agricultura. El sexo más frecuente fue el masculino 203 (71%) casos con lepra. El rango de edad de mayor frecuencia fue entre 49- 63 años de edad (29,56%). El motivo de consulta más frecuente fue el de Mácula en 139 (49%). Conclusión: Se requiere aumentar la calidad de la atención primaria y el compromiso del personal de salud para el control y el diagnóstico oportuno de la Lepra en nuestro país.


Introduction: Leprosy, or Hansen's disease, is a chronic infectious disease caused by Mycobacterium leprae. It causes peripheral neuropathy and affects the skin, peripheral nerves, upper airways, and eyes. The objective was to evaluate the clinical and sociodemographic characteristics to patients with Leprosy who attended Mennonite Hospital Km 81 of Itacurubí de la Cordillera in the years 2018-2022 Material and Method: descriptive observational study, retrospective of cross-sectional in patients with Leprosy of the Mennonite Hospital Km 81 in the city of Itacurubi de la Cordillera of the Department of Cordillera from the year 2018 to 2022. Data were obtained from the review of epidemiological records of patients with a diagnosis of leprosy in the period covered in a period of 5 years, 2018-2022. Results: Of the 18 departments in Paraguay, 286 cases of leprosy were reported. The year with the most cases detected was 2019, with 79 cases, with the department of Alto Paraná having the highest incidence, with 17 cases diagnosed, followed by 2018 with 76 cases. Agriculture was the most common occupation. The most frequent sex was male (203 [71%] patients) with leprosy. The most frequent age range was 49-63 years (29.56%), and the most frequent reason for consultation was macular in 139 patients (49%). Conclusion: It is necessary to increase the quality of primary care and commitment of health personnel in the control and timely diagnosis of leprosy in our country.

7.
Sci Rep ; 13(1): 19779, 2023 11 13.
Artículo en Inglés | MEDLINE | ID: mdl-37957271

RESUMEN

Colombia aims to eliminate malaria by 2030 but remains one of the highest burden countries in the Americas. Plasmodium vivax contributes half of all malaria cases, with its control challenged by relapsing parasitaemia, drug resistance and cross-border spread. Using 64 Colombian P. vivax genomes collected between 2013 and 2017, we explored diversity and selection in two major foci of transmission: Chocó and Córdoba. Open-access data from other countries were used for comparative assessment of drug resistance candidates and to assess cross-border spread. Across Colombia, polyclonal infections were infrequent (12%), and infection connectivity was relatively high (median IBD = 5%), consistent with low endemicity. Chocó exhibited a higher frequency of polyclonal infections (23%) than Córdoba (7%), although the difference was not significant (P = 0.300). Most Colombian infections carried double pvdhfr (95%) and single pvdhps (71%) mutants, but other drug resistance mutations were less prevalent (< 10%). There was no evidence of selection at the pvaat1 gene, whose P. falciparum orthologue has recently been implicated in chloroquine resistance. Global population comparisons identified other putative adaptations. Within the Americas, low-level connectivity was observed between Colombia and Peru, highlighting potential for cross-border spread. Our findings demonstrate the potential of molecular data to inform on infection spread and adaptation.


Asunto(s)
Antimaláricos , Malaria Falciparum , Malaria Vivax , Humanos , Plasmodium vivax/genética , Antimaláricos/farmacología , Colombia/epidemiología , Malaria Vivax/epidemiología , Malaria Vivax/tratamiento farmacológico , Proteínas Protozoarias/genética , Resistencia a Medicamentos/genética , Genómica
8.
Diagnostics (Basel) ; 13(22)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-37998553

RESUMEN

The classification of carbapenemases can help guide therapy. The present study evaluated the performance of the CPO detection test, included in the BD Phoenix™ NMIC-501 panel for the detection and classification of carbapenemases on the representative molecularly characterized strains collection from Mexico. Carbapenem non-susceptible isolates collected in Mexico were included. The clinical isolates (n = 484) comprised Klebsiella pneumoniae (n = 154), Escherichia coli (n = 150), and P. aeruginosa (n = 180). BD Phoenix CPO NMIC-504 and NMIC-501 panels were used for the identification of species, antimicrobial susceptibility tests, and detection of CPOs. For the detection of carbapenemase-encoding genes, E. coli and K. pneumoniae were evaluated using PCR assays for blaNDM-1, blaKPC, blaVIM, blaIMP, and blaOXA-48-like. For P. aeruginosa, blaVIM, blaIMP, and blaGES were detected using PCR. Regarding E. coli, the CPO panels had a sensitivity of 70% and specificity of 83.33% for the detection of a class B carbapenemase (blaNDM in the molecular test). Regarding K. pneumoniae, the panels had a sensitivity of 75% and specificity of 100% for the detection of a class A carbapenemase (blaKPC in the molecular test). The Phoenix NMIC-501 panels are reliable for detecting class B carbapenemases in E. coli. The carbapenemase classification in K. pneumoniae for class A carbapenemases has a high specificity and PPV; thus, a positive result is of high value.

9.
Medicina (B.Aires) ; Medicina (B.Aires);83(supl.4): 52-56, oct. 2023.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1521202

RESUMEN

Resumen Las enfermedades raras y enfermedades sin diag nóstico se han posicionado en los últimos años como condiciones clínicas que han permitido avanzar el en tendimiento de las funciones de los genes y el im pacto en el desarrollo del individuo. En esta revisión, presentamos como los esfuerzos individuales hechos por muchos años para entender la fisiopatología de en fermedades comunes, enfermedades raras y otras aún más raras, como las enfermedades sin diagnóstico, que se unen hoy para, de manera cooperativa, avanzar en el conocimiento científico. Estos avances en el conoci miento permiten aplicar los avances obtenidos en un grupo de condiciones clínicas a otras con características fenotípicas similares o viceversa. El trabajo conjunto de equipos multidisciplinarios y la comunicación entre clínicos e investigadores proporcionarán oportunidades para proveer mejores oportunidades de tratamiento para pacientes y familias a lo largo de múltiples diagnósticos comunes o raros.


Abstract Rare diseases and undiagnosed diseases have re cently positioned themselves as clinical entities that provide important opportunities to advance our under standing of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances ob tained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.

10.
Pathogens ; 12(9)2023 Sep 07.
Artículo en Inglés | MEDLINE | ID: mdl-37764952

RESUMEN

We analyzed the antimicrobial resistance (AMR) data of 6519 clinical isolates of Escherichia coli (n = 3985), Klebsiella pneumoniae (n = 775), Acinetobacter baumannii (n = 163), Pseudomonas aeruginosa (n = 781), Enterococcus faecium (n = 124), and Staphylococcus aureus (n = 691) from 43 centers in Mexico. AMR assays were performed using commercial microdilution systems (37/43) and the disk diffusion susceptibility method (6/43). The presence of carbapenemase-encoding genes was assessed using PCR. Data from centers regarding site of care, patient age, and clinical specimen were collected. According to the site of care, the highest AMR was observed in E. coli, K. pneumoniae, and P. aeruginosa isolates from ICU patients. In contrast, in A. baumannii, higher AMR was observed in isolates from hospitalized non-ICU patients. According to age group, the highest AMR was observed in the ≥60 years age group for E. coli, E. faecium, and S. aureus, and in the 19-59 years age group for A. baumannii and P. aeruginosa. According to clinical specimen type, a higher AMR was observed in E. coli, K. pneumoniae, and P. aeruginosa isolates from blood specimens. The most frequently detected carbapenemase-encoding gene in E. coli was blaNDM (84%).

11.
Medicina (B Aires) ; 83 Suppl 4: 52-56, 2023 Sep.
Artículo en Español | MEDLINE | ID: mdl-37714123

RESUMEN

Rare diseases and undiagnosed diseases have recently positioned themselves as clinical entities that provide important opportunities to advance our understanding of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances obtained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.


Las enfermedades raras y enfermedades sin diagnóstico se han posicionado en los últimos años como condiciones clínicas que han permitido avanzar el entendimiento de las funciones de los genes y el impacto en el desarrollo del individuo. En esta revisión, presentamos como los esfuerzos individuales hechos por muchos años para entender la fisiopatología de enfermedades comunes, enfermedades raras y otras aún más raras, como las enfermedades sin diagnóstico, que se unen hoy para, de manera cooperativa, avanzar en el conocimiento científico. Estos avances en el conocimiento permiten aplicar los avances obtenidos en un grupo de condiciones clínicas a otras con características fenotípicas similares o viceversa. El trabajo conjunto de equipos multidisciplinarios y la comunicación entre clínicos e investigadores proporcionarán oportunidades para proveer mejores oportunidades de tratamiento para pacientes y familias a lo largo de múltiples diagnósticos comunes o raros.


Asunto(s)
Enfermedades Raras , Enfermedades no Diagnosticadas , Humanos , Enfermedades Raras/diagnóstico , Comunicación , Investigadores
12.
Plants (Basel) ; 12(15)2023 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-37570927

RESUMEN

The Cactaceae family makes use of different strategies, both physiological and biochemical, for anatomical adjustments that allow them to grow and reproduce in arid environments. Morphological studies of Gymnocalycium have been scarce, and the anatomy and phytochemistry are still largely unknown. The aim of the present work was to analyze the structural, physiological, and biochemical features of Gymnocalycium marianae and G. oenanthemum, two endemic species of arid regions in Argentina. The anatomic structure, biomass, and photosynthetic pigments, as well as phenolic compound contents, were analyzed in the stem, spine, and root of both species. G. marianae showed stems with deeper substomatal chambers and a more developed photosynthetic tissue than G. oenanthemum. The spines of G. oenanthemum showed higher biomass, thicker epidermal and subepidermal cell walls, and a higher content of phenolic compounds than those of G. marianae. Ectomycorrhizae were observed for the first time in roots in both species. Roots of G. marianae showed high colonization, biomass, and content of phenolic compounds. Both species showed abundant mucilaginous fibers in the stem and root. Finally, these results show the strategies associated with the survival in xeric environments of two cacti species at risk of extinction. They could be useful for the development of ex situ conservation programs.

13.
J Glob Antimicrob Resist ; 33: 61-71, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36878463

RESUMEN

OBJECTIVES: To determine genomic characteristics and molecular epidemiology of carbapenem non-susceptible Klebsiella pneumoniae, Escherichia coli, Acinetobacter baumannii, and Pseudomonas aeruginosa from medical centres of Mexico using whole genome sequencing data analysed with the EPISEQⓇ CS application and other bioinformatic platforms. METHODS: Clinical isolates collected from 28 centres in Mexico included carbapenem-non-susceptible K. pneumoniae (n = 22), E. coli (n = 24), A. baumannii (n = 16), and P. aeruginosa (n = 13). Isolates were subjected to whole genome sequencing using the Illumina (MiSeq) platform. FASTQ files were uploaded to the EPISEQⓇ CS application for analysis. Additionally, the tools Kleborate v2.0.4 and Pathogenwatch were used as comparators for Klebsiella genomes, and the bacterial whole genome sequence typing database was used for E. coli and A. baumannii. RESULTS: For K. pneumoniae, both bioinformatic approaches detected multiple genes encoding aminoglycoside, quinolone, and phenicol resistance, and the presence of blaNDM-1 explained carbapenem non-susceptibility in 18 strains and blaKPC-3 in four strains. Regarding E. coli, both EPISEQⓇ CS and bacterial whole genome sequence typing database analyses detected multiple virulence and resistance genes: 20 of 24 (83.3%) strains carried blaNDM, 3 of 24 (12.4%) carried blaOXA-232, and 1 carried blaOXA-181. Genes that confer resistance to aminoglycosides, tetracyclines, sulfonamides, phenicols, trimethoprim, and macrolides were also detected by both platforms. Regarding A. baumannii, the most frequent carbapenemase-encoding gene detected by both platforms was blaOXA-72, followed by blaOXA-66. Both approaches detected similar genes for aminoglycosides, carbapenems, tetracyclines, phenicols, and sulfonamides. Regarding P. aeruginosa, blaVIM, blaIMP, and blaGES were the more frequently detected. Multiple virulence genes were detected in all strains. CONCLUSION: Compared to the other available platforms, EPISEQⓇ CS enabled a comprehensive resistance and virulence analysis, providing a reliable method for bacterial strain typing and characterization of the virulome and resistome.


Asunto(s)
Antibacterianos , Escherichia coli , Escherichia coli/genética , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Bacterias Gramnegativas , Carbapenémicos , Klebsiella pneumoniae , Aminoglicósidos , Pseudomonas aeruginosa/genética , Biología Computacional
14.
Rev. am. med. respir ; 23(1): 32-36, mar. 2023. graf
Artículo en Español | LILACS, BINACIS | ID: biblio-1514918

RESUMEN

Introducción: Es probable que el SARS-CoV-2 favorezca el paso de infección a enfer medad tuberculosa. Si bien la información es limitada, existen avances en la comprensión de la interacción COVID-19 y tuberculosis. Nuevas investigaciones arrojaron similitudes inesperadas en la patogenia y evolución de la coinfección. Linfopenia prolongada, hipe rinflamación, lesión del tejido pulmonar y desequilibrio en los subconjuntos de células T CD4+ asociados con COVID-19 podrían propagar la infección por M. tuberculosis y progresión de la enfermedad. Casos clínicos: Presentamos tres pacientes jóvenes, sin comorbilidades, con factores de riesgo para infección tuberculosa latente, diagnosticados de tuberculosis pulmonar posterior cursado COVID-19 leve, de tratamiento sintomático (no corticoideo). Discusión: Estos casos plantean el probable impacto del SARS-CoV-2 en el paso de infección tuberculosa latente a enfermedad, excluida la ya demostrada influencia de los corticoides y formas graves de COVID-19. Existe cada vez más evidencia que refuerza esta idea.


Introduction: SARS-CoV-2 is likely to favor the transition from infection to tuberculosis disease. Although information is limited, there is progress in understanding the inter action between COVID-19 and Tuberculosis. New investigations yielded unexpected similarities in the pathogenesis and evolution of the coinfection. Prolonged lymphopenia, hyperinflammation, lung tissue injury, and imbalance in CD4+ T-cell subsets associated with COVID-19 could propagate M. tuberculosis infection and disease progression. Clinical cases: we present three young patients, without comorbidities, with risk factors for Latent Tuberculous Infection, diagnosed with pulomonary Tuberculosis post mild COVID-19, treated symptomatically (not corticosteroids). Discussion: These cases raise the probable impact of SARS-CoV-2 in the transition from Latent Tuberculous Infection to disease, excluding the already proven influence of corticosteroids and severe forms of COVID-19. There is increasing evidence to sup port this idea.

15.
Life Sci Alliance ; 6(5)2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36813568

RESUMEN

Building de novo genome assemblies for complex genomes is possible thanks to long-read DNA sequencing technologies. However, maximizing the quality of assemblies based on long reads is a challenging task that requires the development of specialized data analysis techniques. We present new algorithms for assembling long DNA sequencing reads from haploid and diploid organisms. The assembly algorithm builds an undirected graph with two vertices for each read based on minimizers selected by a hash function derived from the k-mer distribution. Statistics collected during the graph construction are used as features to build layout paths by selecting edges, ranked by a likelihood function. For diploid samples, we integrated a reimplementation of the ReFHap algorithm to perform molecular phasing. We ran the implemented algorithms on PacBio HiFi and Nanopore sequencing data taken from haploid and diploid samples of different species. Our algorithms showed competitive accuracy and computational efficiency, compared with other currently used software. We expect that this new development will be useful for researchers building genome assemblies for different species.


Asunto(s)
Algoritmos , Secuenciación de Nucleótidos de Alto Rendimiento , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Análisis de Secuencia de ADN/métodos , Genoma , Programas Informáticos
16.
Microb Drug Resist ; 29(6): 239-248, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36595348

RESUMEN

In this study, we report the carbapenemase-encoding genes and colistin resistance in Escherichia coli, Klebsiella pneumoniae, Acinetobacter baumannii, and Pseudomonas aeruginosa in the second year of the COVID-19 pandemic. Clinical isolates included carbapenem-resistant K. pneumoniae, carbapenem-resistant E. coli, carbapenem-resistant A. baumannii, and carbapenem-resistant P. aeruginosa. Carbapenemase-encoding genes were detected by PCR. Carbapenem-resistant K. pneumoniae and carbapenem-resistant E. coli isolates were analyzed using the Rapid Polymyxin NP assay. mcr genes were screened by PCR. Pulsed-field gel electrophoresis and whole-genome sequencing were performed on representative isolates. A total of 80 carbapenem-resistant E. coli, 103 carbapenem-resistant K. pneumoniae, 284 carbapenem-resistant A. baumannii, and 129 carbapenem-resistant P. aeruginosa isolates were recovered. All carbapenem-resistant E. coli and carbapenem-resistant K. pneumoniae isolates were included for further analysis. A selection of carbapenem-resistant A. baumannii and carbapenem-resistant P. aeruginosa strains was further analyzed (86 carbapenem-resistant A. baumannii and 82 carbapenem-resistant P. aeruginosa). Among carbapenem-resistant K. pneumoniae and carbapenem-resistant E. coli isolates, the most frequent gene was blaNDM (86/103 [83.5%] and 72/80 [90%], respectively). For carbapenem-resistant A. baumannii, the most frequently detected gene was blaOXA-40 (52/86, 60.5%), and for carbapenem-resistant P. aeruginosa, was blaVIM (19/82, 23.2%). For carbapenem-resistant A. baumannii, five indistinguishable pulsotypes were detected. Circulation of K. pneumoniae New Delhi metallo-ß-lactamase (NDM) and E. coli NDM was detected in Mexico. High virulence sequence types (STs), such as K. pneumoniae ST307, E. coli ST167, P. aeruginosa ST111, and A. baumannii ST2, were detected. Among K. pneumoniae isolates, 18/101 (17.8%) were positive for the Polymyxin NP test (two, 11.0% positive for the mcr-1 gene, and one, 5.6% with disruption of the mgrB gene). All E. coli isolates were negative for the Polymyxin NP test. In conclusion, K. pneumoniae NDM and E. coli NDM were detected in Mexico, with the circulation of highly virulent STs. These results are relevant in clinical practice to guide antibiotic therapies considering the molecular mechanisms of resistance to carbapenems.


Asunto(s)
COVID-19 , Colistina , Humanos , Colistina/farmacología , Antibacterianos/farmacología , Escherichia coli/genética , México/epidemiología , Pandemias , Farmacorresistencia Bacteriana/genética , Pruebas de Sensibilidad Microbiana , COVID-19/epidemiología , beta-Lactamasas/genética , Carbapenémicos/farmacología , Carbapenémicos/uso terapéutico , Bacterias Gramnegativas , Klebsiella pneumoniae , Pseudomonas aeruginosa/genética
17.
PeerJ ; 11: e14411, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36684666

RESUMEN

Background: Antimicrobial resistance is a global concern. Analysis of sterile fluids is essential because microorganisms are defined as significant in most cases. Blood, cerebrospinal, and pleural fluids are frequently received in the microbiology lab because they are associated with considerable rates of morbi-mortality. Knowledge of epidemiology in these samples is needed to choose proper empirical treatments due to the importance of reducing selection pressure. Methods: We used retrospective laboratory data of blood, CSF, and pleural fluid collected from patients in Mexico between 2019 and 2020. Each laboratory identified the strains and tested susceptibility using its routine methods. For Streptococcus pneumoniae, a comparative analysis was performed with data from the broth microdilution method. Results: Forty-five centers participated in the study, with 30,746 clinical isolates from blood, 2,429 from pleural fluid, and 2,275 from CSF. For blood and CSF, Staphylococcus epidermidis was the most frequent. For blood, among gram negatives, the most frequent was Escherichia coli. Among Enterobacterales, 9.8% of K. pneumoniae were carbapenem-resistant. For S. pneumoniae, similar resistance percentages were observed for levofloxacin, cefotaxime, and vancomycin. For CSF, the most frequent gram-negative was E. coli. In Acinetobacter baumannii, carbapenem resistance was 71.4%. The most frequent species detected for pleural fluid was E. coli; in A. baumannii, carbapenem resistance was 96.3%. Conclusion: Gram-negative bacteria, with E. coli most prevalent, are frequently recovered from CSF, blood, and pleural fluid. In S. pneumoniae, the routine, conventional methods showed good agreement in detecting resistance percentages for erythromycin, levofloxacin, and vancomycin.


Asunto(s)
Antibacterianos , Vancomicina , Humanos , Antibacterianos/farmacología , Vancomicina/farmacología , Levofloxacino , Escherichia coli , Incidencia , Estudios Retrospectivos , Bacterias , Carbapenémicos , Resistencia a Medicamentos
18.
Int J Immunogenet ; 50(1): 12-18, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36543746

RESUMEN

Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc) in the Paraguayan population. We included 254 patients with IMIDs (101 SLE, 103 RA, and 50 SSc) and 50 healthy controls. The haplotypes of five genes corresponding to HLA class II genes and their relationship to the IMIDs studied were determined. Note that 84.6% were women, with a mean age of 43.4 ± 14 years. Among the associated HLA alleles, we found the previously identified risk factors in other populations like HLA-DRB1*03:01 and HLA-DRB1*14:02 for RA, as well as new ones not previously identified, such as DPA1*02:01 for SLE and, DB1*02:01 for RA and SSc. In the genetic association analysis, already known associations have been replicated, and unpublished associations have been identified in Paraguayan patients with IMIDs. This is the first genetic association study in Paraguayan patients with IMIDs.


Asunto(s)
Artritis Reumatoide , Lupus Eritematoso Sistémico , Humanos , Femenino , Adulto , Persona de Mediana Edad , Masculino , Predisposición Genética a la Enfermedad , Alelos , Agentes Inmunomoduladores , Lupus Eritematoso Sistémico/genética , Cadenas HLA-DRB1/genética , Artritis Reumatoide/genética , Haplotipos
19.
Ginecol. obstet. Méx ; Ginecol. obstet. Méx;91(9): 637-644, ene. 2023. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1520954

RESUMEN

Resumen OBJETIVO: Describir el nivel de conocimiento de los signos y síntomas de alarma obstétrica en mujeres embarazadas. MATERIALES Y MÉTODOS: Estudio de serie de casos prolectivo y descriptivo efectuado en la Unidad de Medicina Familiar 16, Instituto Mexicano del Seguro Social, Mexicali, Baja California, entre los meses de enero a junio de 2022. Variables de estudio: edad, sexo, escolaridad y nivel de conocimiento de signos y síntomas de alarma a través de una encuesta elaborada conforme a los criterios de la guía de práctica clínica. Se utilizó estadística descriptiva con el programa SPSSv24. RESULTADOS: Se estudiaron 150 pacientes embarazadas. El bajo nivel de conocimiento de los signos y síntomas de alarma se observó en 15 casos, el nivel medio en 47 casos y el nivel alto en 88 casos (58.7%). En cuanto a las características de la población, los límites de edad fueron 20 y 34 años, la escolaridad secundaria ocupó el 47.3% seguido de la preparatoria con el 35.3% y en cuanto a la ocupación el 80.7% refirió ser empleada. El 34% cursaba el primer trimestre del embarazo y el 48.7% el segundo trimestre. CONCLUSIONES: El nivel de conocimiento de las pacientes embarazadas atendidas en la unidad es alto y medio porque pueden reconocer los signos y síntomas de alarma durante el embarazo, sobre todo quienes cursan el segundo embarazo, en coincidencia con estudios nacionales e internacionales. El grupo predominante fue el de 20 a 34 años, con escolaridad media y superior.


Abstract OBJECTIVE: To describe the level of knowledge of obstetric alarm signs and symptoms in pregnant women. MATERIALS AND METHODS: Selective and descriptive case series study carried out in the Family Medicine Unit 16, Mexican Institute of Social Security, Mexicali, Baja California, between January and June 2022. Study variables: age, sex, education and level of knowledge of warning signs and symptoms through a survey prepared according to the criteria of the Clinical Practice Guide. Descriptive statistics were performed using SPSSv24. RESULTS: 150 pregnant patients were screened. A low level of knowledge of warning signs and symptoms was observed in 15 cases, a medium level in 47 cases and a high level in 88 cases (58.7%). Regarding the characteristics of the population, the age range was 20-34 years, 47.3% had secondary education, followed by high school with 35.3%, and 80.7% reported being employed. Thirty-four per cent were in the first trimester of pregnancy and 48.7 per cent in the second trimester. CONCLUSIONS: The level of knowledge of pregnant patients attending the unit is high and medium in terms of being able to recognize the warning signs and symptoms of pregnancy, particularly in the second trimester, in line with national and international studies. The predominant age group was 20-34 years, with secondary and higher education.

20.
World J Clin Cases ; 10(33): 12247-12256, 2022 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-36483799

RESUMEN

BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations. It was recently described in 2005, and today at least six different subtypes have been identified. Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities, with specific arterial tortuosity at any site. The differential diagnosis of LDS includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome, Shprintzen-Goldberg craniosynostosis, and familial aortic aneurysm and dissection syndrome. CASE SUMMARY: We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein. CONCLUSION: This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies, underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients. Differential diagnosis, clinical presentation and treatment options for this syndrome are discussed in this article.

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