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1.
Front Neurosci ; 18: 1408105, 2024.
Article in English | MEDLINE | ID: mdl-39315078

ABSTRACT

XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.

2.
Sci Rep ; 14(1): 18091, 2024 08 05.
Article in English | MEDLINE | ID: mdl-39103362

ABSTRACT

Apparent resistant hypertension (aTRH) is a significant public health issue. Once low adherence to antihypertensive treatment has been ruled out and true resistant hypertension is diagnosed, aldosterone-direct-renin-ratio (ADRR) aids in the screening of an aldosterone-producing adenoma (APA) and primary aldosteronism (PA). Once PA and other secondary causes have been ruled out, the values of aldosterone and renin allow patients to be classified into phenotypes such as low renin hypertension (LRH), Liddle's-like (LLph), and primary hyperaldosteronism (PAph). These classifications could aid in the treatment decision-making process. However, optimal cut-off points for these classifications remain uncertain. This study aims to assess the prevalence of these phenotypes and the behavior of different cut-offs of the ADRR in an Afro-Colombian population with apparent resistant hypertension, as well to describe their sodium consumption. Afro-descendant individuals 18 years of age or older, diagnosed with resistant hypertension and attending to a primary care center in Colombia were recruited as volunteers. As part of the study, their plasma renin concentration (PRC) and plasma aldosterone concentration (PAC) were measured. The phenotypes were categorized into three groups based on multiple cut-off points from different authors: low renin and low aldosterone phenotype (LLph), low renin and high aldosterone phenotype (PAph), and high renin and high aldosterone phenotype, referred to as the renal phenotype (Rph). The prevalence of ADRR values exceeding the cut-off and phenotypes were calculated. A linear regression model was derived to assess the effect of sodium consumption with PAC, PRC and ADRR. A total of 88 patients with aTRH were included. Adherence to at least 3 antihypertensive medications was 62.5%. The median age was 56 years (IQR 48-60), 44% were female, and 20% had diabetes. The study found that the prevalence of ADRR values exceeding the cut-off ranged from 4.5 to 23%, while low-renin hypertension (LRH) varied from 15 to 74%, Rph was found in approximately 30 to 34% of patients, PAph in 30 to 51%, and the LLph in 15 to 41%, respectively, depending on the specific cut-off value by different authors. Notably, sodium consumption was associated with lower aldosterone (ß - 0.15, 95% CI [- 0.27, - 0.03]) and renin concentrations (ß - 0.75, 95% CI [- 1.5, - 0.02]), but ADRR showed no significant association with sodium consumption. There were no significant differences in prevalences between the groups taking < 3 vs ≥ 3 antihypertensive medications. Altered aldosterone-direct-renin-ratio, low renin hypertension, Liddle's-like, and primary hyperaldosteronism are prevalent phenotypes in patients within Afro-Colombian patients with apparent treatment-Resistant hypertension.


Subject(s)
Aldosterone , Antihypertensive Agents , Hypertension , Phenotype , Renin , Humans , Renin/blood , Aldosterone/blood , Hypertension/drug therapy , Hypertension/epidemiology , Hypertension/blood , Female , Middle Aged , Male , Adult , Antihypertensive Agents/therapeutic use , Hyperaldosteronism/blood , Hyperaldosteronism/diagnosis , Hyperaldosteronism/drug therapy , Hyperaldosteronism/epidemiology , Black People , Aged , Drug Resistance
3.
Rev Neurol ; 78(11): 295-305, 2024 Jun 01.
Article in Spanish, English | MEDLINE | ID: mdl-38813787

ABSTRACT

AIM: To determine post-surgical cognitive risk and associated factors according to lesion location in a sample of patients evaluated for epilepsy surgery with Wada test at the Fundacion Instituto Neurologico de Colombia. MATERIALS AND METHODS: An observational, retrospective, analytical study was completed in patients with drug-resistant temporal lobe epilepsy candidates for epilepsy surgery treated from 2001 to 2021, who completed the Wada test as part of the pre-surgical evaluation. A descriptive analysis of sociodemographic, clinical, imaging and neuropsychological variables was completed; a multivariate logistic regression was performed analyzing factors associated with resection risk in patients with left lesions. RESULTS A total of 369 patients were included, 54.74% of the cases were women, with a median age of seizure onset of 11 years. 92.66% of the cases had lesional epilepsy and 68.56% were secondary to hippocampal sclerosis. Left hemisphere was the most frequently affected (65.68%) being dominant for memory and language in most of the patients with a proportion of 42.82% and 81.3%, respectively. The median functional adequacy was 43.75 (IQR 0-75) and the functional reserve was 75 (IQR 25 -93.75). In 104 patients, the Wada test determined a resection risk. In patients with a left lesion, it was found that functional reserve (PRadjusted 0.99, CI 95% 0.9997-0.9998) and having a right hemispheric dominance for memory (PRadjusted 0.92, CI 95% 0.547-0.999) were protective factors for post-surgical resection risk. CONCLUSION: Wada test is a useful tool for surgical decision-making in patients with drug-resistant temporal lobe epilepsy. When considering cognitive risk, components such as memory dominance and functional reserve should be considered as protective factors for postsurgical cognitive function preservation in patients with left lesions.


TITLE: Evaluación de la memoria y el lenguaje mediante el test de Wada en pacientes candidatos a cirugía de epilepsia.Objetivo. Determinar el riesgo cognitivo posquirúrgico y factores asociados según la localización de la lesión en una muestra de pacientes evaluados para cirugía de epilepsia con el test de Wada en la Fundación Instituto Neurológico de Colombia. Materiales y métodos. Se realizó un estudio observacional, retrospectivo y analítico en pacientes con epilepsia farmacorresistente del lóbulo temporal candidatos a cirugía de epilepsia tratados entre 2001 y 2021, que completaron el test de Wada como parte de la evaluación prequirúrgica. Se realizó un análisis descriptivo de variables sociodemográficas, clínicas, imagenológicas y neuropsicológicas. Se realizó una regresión logística multivariada analizando factores asociados al riesgo de resección en pacientes con lesiones izquierdas. Resultados. Se incluyó a 369 pacientes, el 54,74% de los casos fueron mujeres, con una mediana de edad de inicio de las convulsiones de 11 años. El 92,66% de los casos presentó epilepsia lesional; de éstos, el 68,56% fue secundario a esclerosis hipocampal. El hemisferio izquierdo fue el más frecuentemente afectado (65,68%), y éste fue dominante para la memoria y el lenguaje en la mayoría de los pacientes, con una proporción del 42,82 y el 81,3%, respectivamente. La mediana de adecuación funcional fue de 43,75 (rango intercuartílico: 0-75) y la reserva funcional de 75 (rango intercuartílico: 25-93,75). En 104 pacientes, el test de Wada determinó un riesgo de resección. En pacientes con lesiones izquierdas se encontró que la reserva funcional (razón de prevalencia ajustada: 0,99; intervalo de confianza al 95%: 0,9997-0,9998) y tener dominancia del hemisferio derecho para la memoria (razón de prevalencia ajustada: 0,92; intervalo de confianza al 95%: 0,547-0,999) fueron factores asociados para determinar el riesgo de resección posquirúrgico en el test de Wada. Conclusión. El test de Wada es una herramienta útil para la toma de decisiones quirúrgicas en pacientes con epilepsia del lóbulo temporal farmacorresistente. Componentes como la dominancia de la memoria y la reserva funcional en el test de Wada deben considerarse como factores que se deben tener en cuenta en la predicción de la preservación de la función cognitiva posquirúrgica en pacientes con lesiones izquierdas.


Subject(s)
Drug Resistant Epilepsy , Epilepsy, Temporal Lobe , Humans , Female , Male , Retrospective Studies , Adult , Risk Assessment , Epilepsy, Temporal Lobe/surgery , Drug Resistant Epilepsy/surgery , Neuropsychological Tests , Postoperative Complications/etiology , Young Adult , Adolescent , Child , Language
4.
Braz J Microbiol ; 55(2): 1167-1177, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38557863

ABSTRACT

It is essential to evaluate the effects of operating conditions in submerged cultures of filamentous microorganisms. In particular, the impeller type influences the flow pattern, power consumption, and energy dissipation, leading to differences in the hydrodynamic environment that affect the morphology of the microorganism. This work investigated the effect of different impeller types, namely the Rushton turbine (RT-RT) and Elephant Ear impellers in up-pumping (EEUP) and down-pumping (EEDP) modes, on cellular morphology and clavulanic acid (CA) production by Streptomyces clavuligerus in a stirred-tank bioreactor. At 800 rpm and 0.5 vvm, the cultivations performed using RT-RT and EEUP impellers provided higher shear conditions and oxygen transfer rates than those observed with EEDP. These conditions resulted in higher clavulanic acid production using RT-RT (380.7 mg/L) and EEUP (453.3 mg/L) impellers, compared to EEDP (196.6 mg/L). Although the maximum CA concentration exhibited the same order of magnitude for RT-RT and EEUP impellers, the latter presented 40% of the specific power consumption (4.9 kW/m3) compared to the classical RT-RT (12.0 kW/m3). The specific energy for CA production ( E CA ), defined as the energy cost to produce 1 mg of CA, was 3.5 times lower using the EEUP impeller (1.91 kJ/mgCA) when compared to RT-RT (5.91 kJ/mgCA). Besides, the specific energy for O2 transfer ( E O 2 ), the energy required to transfer 1 mmol of O2, was 2.3 times lower comparing the EEUP impeller (3.28 kJ/mmolO2) to RT-RT (7.65 kJ/mmolO2). The results demonstrated the importance of choosing the most suitable impeller configuration in conventional bioreactors to manufacture bioproducts.


Subject(s)
Bioreactors , Clavulanic Acid , Streptomyces , Clavulanic Acid/biosynthesis , Streptomyces/metabolism , Streptomyces/growth & development , Bioreactors/microbiology , Fermentation , Anti-Bacterial Agents/biosynthesis
5.
Rev Neurol ; 78(5): 127-133, 2024 Mar 01.
Article in Spanish, English | MEDLINE | ID: mdl-38416504

ABSTRACT

INTRODUCTION: Information about seasonal distribution of Neuromyelitis optica spectrum disorders (NMOSD) attacks, particularly in tropical countries, has rarely been described and the reported data are diverse. OBJECTIVE: To evaluate influence of seasonal variation in NMOSD relapses in an equatorial country. PATIENTS AND METHODS: Exploratory observational, retrospective ecological study in a cohort of patients with NMOSD followed from January 2008 to December 2019. Data of demographic, clinical information, characteristics of relapses and seasonal temporal variation were recorded. Also, the annual, monthly and intra-annual seasonal variation of relapses was quantified. A negative binomial regression was used to estimate the associations between the number of relapses and climatic and temporal variables. RESULTS: One hundred thirteen patients were included, most of them were female (89.38%), with a mean age at NMOSD diagnosis was 44.97 (±13.98) and the median of relapses per patient were 2 relapses (IQR 1-3). The patients presented 237 relapses, most of these in AQP4 seropositive patients (87.76%) and longitudinal extensive myelitis was the most frequent type of relapse (53.59%). According to the temporal variation, relapses were more common in the second rainy season (28.69%) during November and December. However, there weren't significant differences in the number of relapses between seasons and climatic variables in the multivariable model. CONCLUSION: The number of NMOSD relapses in this equatorial country cohort did not exhibit any significant associations with climatic variations, including changes in rainy or dry seasons.


TITLE: Recaídas del trastorno de espectro de la neuromielitis óptica e influencia estacional en una cohorte de un país ecuatorial.Introducción. La evidencia sobre la distribución estacional de las recaídas del trastorno del espectro de la neuromielitis óptica (NMOSD), especialmente en países tropicales, es limitada y diversa. Objetivo. Evaluar la influencia de las variaciones estacionales en las recaídas del NMOSD en un país localizado sobre la línea ecuatorial. Pacientes y métodos. Se llevó a cabo un estudio ecológico, con información retrospectiva de una cohorte de pacientes con NMOSD atendida entre enero de 2003 y diciembre de 2020 en Medellín, Colombia. Se recolectaron datos demográficos y clínicos de los pacientes, así como información sobre variables estacionales y climáticas. Se calculó la frecuencia de recaídas por estación, mes y año, y se realizó una regresión binomial negativa para evaluar la asociación entre el número de recaídas, y las variables estacionales y climáticas. Resultados. Se incluyó a 113 pacientes, de los cuales el 89,38% eran mujeres, con una edad media en el momento del diagnóstico de NMOSD de 44,97 (±13,98) años y una mediana de tres recaídas (rango intercuartílico: 1-2). Se registraron 237 recaídas, la mayoría en pacientes seropositivos para anticuerpos antiacuaporina 4 (87,76%) y con mielitis longitudinal extensa como la presentación clínica más común (53,59%). Las recaídas se presentaron con mayor frecuencia durante la segunda temporada lluviosa (28,69%; n = 68), y en los meses de noviembre y diciembre. Sin embargo, en la regresión binomial negativa no se observó una asociación significativa entre el número de recaídas y las variables climáticas y estacionales, los meses y los años. Conclusión. Las variables climáticas y los patrones estacionales no muestran una asociación significativa con cambios en el número de recaídas del NMOSD en pacientes residentes en un país localizado sobre la línea ecuatorial.


Subject(s)
Neuromyelitis Optica , Humans , Female , Male , Neuromyelitis Optica/epidemiology , Seasons , Retrospective Studies , Chronic Disease , Research Design
7.
Cerebellum ; 23(4): 1727-1732, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38180701

ABSTRACT

Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases encompass a range of clinical presentations, highlighting the phenotypic variability within SCA19 from an early-onset, severe disease to a late-onset, slowly progressive condition with normal lifespan. While some patients present with pure ataxia, others also show cognitive impairment, dystonia, and other neurological symptoms. The correlations between specific KCND3 variants and phenotypic outcomes are complex and warrant further investigation. As the genomic landscape of spinocerebellar ataxias evolves, comprehensive genetic testing is becoming pivotal in improving diagnostic accuracy. This study contributes to a better understanding of the clinical spectrum of SCA19, laying the groundwork for further genotype-phenotype correlations and functional studies to elucidate the underlying pathophysiology.


Subject(s)
Phenotype , Humans , Male , Female , Middle Aged , Adult , Mexico/epidemiology , Chile/epidemiology , Aged , Spinocerebellar Degenerations/genetics , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/epidemiology
8.
Actas Dermosifiliogr ; 115(1): T28-T35, 2024 Jan.
Article in English, Spanish | MEDLINE | ID: mdl-37923070

ABSTRACT

BACKGROUND AND OBJECTIVE: Systemic adverse effects (AE) are a major concern of low-dose oral minoxidil (LDOM) treatment, especially in patients with arterial hypertension or arrhythmia. The objective of this study was to evaluate the safety of LDOM in patients with hypertension or arrhythmia. PATIENTS AND METHODS: Retrospective multicenter study of patients with hypertension or arrhythmia treated with LDOM for any type of alopecia. RESULTS: A total of 254 patients with hypertension [176 women (69.3%) and 78 men (30.7%)] with a mean age of 56.9 years (range 19-82) were included. From them, the dose of LDOM was titrated in 128 patients, allowing the analysis of 382 doses. Patients were receiving a mean of 1.45 (range 0-5) antihypertensive drugs. Systemic AE were detected in 26 cases (6.8%) and included lightheadedness (3.1%), fluid retention (2.6%), general malaise (0.8%), tachycardia (0.8%) and headache (0.5%), leading to LDOM discontinuation in 6 cases (1.5%). Prior treatment with doxazosin (P<0.001), or with three or more antihypertensive drugs (P=0.012) was associated with a higher risk of discontinuation of LDOM. CONCLUSIONS: LDOM treatment showed a favorable safety profile in patients with hypertension or arrhythmia, similar to general population.


Subject(s)
Hypertension , Minoxidil , Male , Humans , Female , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and over , Minoxidil/adverse effects , Antihypertensive Agents/adverse effects , Alopecia/drug therapy , Alopecia/chemically induced , Hypertension/drug therapy , Arrhythmias, Cardiac/chemically induced , Arrhythmias, Cardiac/drug therapy , Treatment Outcome
9.
Actas Dermosifiliogr ; 115(1): 28-35, 2024 Jan.
Article in English, Spanish | MEDLINE | ID: mdl-37652097

ABSTRACT

BACKGROUND AND OBJECTIVE: Systemic adverse effects (AE) are a major concern of low-dose oral minoxidil (LDOM) treatment, especially in patients with arterial hypertension or arrhythmia. The objective of this study was to evaluate the safety of LDOM in patients with hypertension or arrhythmia. PATIENTS AND METHODS: Retrospective multicenter study of patients with hypertension or arrhythmia treated with LDOM for any type of alopecia. RESULTS: A total of 254 patients with hypertension [176 women (69.3%) and 78 men (30.7%)] with a mean age of 56.9 years (range 19-82) were included. From them, the dose of LDOM was titrated in 128 patients, allowing the analysis of 382 doses. Patients were receiving a mean of 1.45 (range 0-5) antihypertensive drugs. Systemic AE were detected in 26 cases (6.8%) and included lightheadedness (3.1%), fluid retention (2.6%), general malaise (0.8%), tachycardia (0.8%) and headache (0.5%), leading to LDOM discontinuation in 6 cases (1.5%). Prior treatment with doxazosin (P<0.001), or with three or more antihypertensive drugs (P=0.012) was associated with a higher risk of discontinuation of LDOM. CONCLUSIONS: LDOM treatment showed a favorable safety profile in patients with hypertension or arrhythmia, similar to general population.


Subject(s)
Hypertension , Minoxidil , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Alopecia/drug therapy , Alopecia/chemically induced , Antihypertensive Agents/adverse effects , Arrhythmias, Cardiac/chemically induced , Arrhythmias, Cardiac/drug therapy , Hypertension/drug therapy , Minoxidil/adverse effects , Treatment Outcome , Retrospective Studies
10.
Int J Mol Sci ; 24(19)2023 Oct 03.
Article in English | MEDLINE | ID: mdl-37834314

ABSTRACT

Lactose intolerance (LI) and vitamin D deficiency (VDD) have been linked to inflammatory bowel disease (IBD). We conducted an observational study in 192 Chilean IBD patients to investigate the prevalence of a specific gene variant (LCT-13910 CC genotype) associated with LI and the prevalence of VDD/Vitamin D Receptor (VDR) gene variants. Blood samples were analyzed using Illumina's Infinium Global Screening Array. The LCT-13910 CC genotype was found in 61% of IBD patients, similar to Chilean Hispanic controls and lower than Chilean Amerindian controls. The frequency of the LCT-13910-C allele in Chilean IBD patients (0.79) was comparable to the general population and higher than Europeans (0.49). Regarding VDR and VDD variants, in our study, the rs12785878-GG variant was associated with an increased risk of IBD (OR = 2.64, CI = 1.61-4.32; p-value = 0.001). Sixty-one percent of the Chilean IBD cohort have a genetic predisposition to lactose malabsorption, and a significant proportion exhibit genetic variants associated with VDD/VDR. Screening for LI and VDD is crucial in this Latin American IBD population.


Subject(s)
Inflammatory Bowel Diseases , Lactose , Receptors, Calcitriol , Humans , Chile/epidemiology , Genetic Predisposition to Disease , Genotype , Inflammatory Bowel Diseases/epidemiology , Inflammatory Bowel Diseases/genetics , Inflammatory Bowel Diseases/complications , Lactose/deficiency , Polymorphism, Single Nucleotide , Prevalence , Receptors, Calcitriol/genetics , Vitamin D , Vitamin D Deficiency/complications , Vitamin D Deficiency/epidemiology , Vitamin D Deficiency/genetics
11.
Rev. méd. Chile ; 151(9)sept. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1565710

ABSTRACT

Presentamos el caso de un paciente de 49 años, de sexo masculino, que consulta en el servicio de urgencias por un cuadro de dos meses de evolución, caracterizado por compromiso del estado general, baja de peso, dolor abdominal, sensación febril y elevación de los parámetros inflamatorios. Al estudio imagenológico se observa una voluminosa lesión hepática, asociada a dilatación de la vía biliar y adenopatías en hilio hepático, espacio porto-cavo y retroperitoneales (inter-cavo-aórticos), que plantea dentro de los diagnósticos diferencias un colangiocarcinoma intrahepático. Basados en esta sospecha se realiza una segmentectomía y linfadenectomía regional. El estudio histopatológico e inmunohistoquímico de la pieza quirúrgica, evidencia un proceso inflamatorio linfoplasmocitario, con la presencia de células plasmáticas IgG4 positivas, compatible con una enfermedad asociada a IgG4. Posterior a la resección se decide manejo expectante, evolucionando el paciente de forma favorable, asintomático y sin signos de recurrencia. Presentamos un caso y una breve revisión de la literatura de un pseudotumor inflamatorio hepático, entidad poco frecuente y de comportamiento benigno.


We report the case of a 49-year-old man who attended the emergency department for a two-month history of compromised general condition, weight loss, abdominal pain, fever, and elevated inflammatory parameters. An imaging study demonstrates a bulky liver tumor associated with dilation of the bile duct and retroperitoneal adenopathies (hepatic hilum, intermediate, and right lumbar groups). These findings raise intrahepatic cholangiocarcinoma within the differential diagnoses, reason why segmental hepatectomy and regional lymphadenectomy were performed. Histopathology and immunochemistry revealed a lymphoplasmacytic inflammatory process with IgG4-positive plasma cells compatible with IgG4-associated disease. After the resection, expectant management was decided, with the patient evolving favorably, asymptomatic, and without signs of recurrence. We present a case and a brief literature review of an hepatic inflammatory pseudotumor, a rare entity with a benign behavior.

12.
Environ Pollut ; 333: 122027, 2023 Sep 15.
Article in English | MEDLINE | ID: mdl-37364751

ABSTRACT

This work evaluates the effect of agricultural plastic waste (APW) in two particle sizes, microplastic and film debris, and subjected to a pre-treatment by exposure to UV-C, in the development of the vermicomposting process. Eisenia fetida health status and metabolic response and the vermicompost quality and enzymatic activity were determined. The environmental significant of this study is mainly related to how can affect plastic presence (depending on plastic type, size and/or if it is partially degraded) not only to this biological process of organic waste degradation, but also to the vermicompost characteristics, since these organic materials will be reintroduced in the environment as organic amendments and/or fertilizers in agriculture. The plastic presence induced a significant negative effect in survival and body weight of E. fetida with an average decrease of 10% and 15%, respectively, and differences on the characteristics of the vermicomposts obtained, mainly related with NPK content. Although the plastic proportion tested (1.25% f. w.) did not induce acute toxicity in worms, effects of oxidative stress were found. Thus, the exposure of E. fetida to AWP with smaller size or pre-treated with UV seemed to induce a biochemical response, but the mechanism of oxidative stress response did not seem to be dependent on the size or shape of plastic fragments or pre-treated plastic.


Subject(s)
Manure , Oligochaeta , Animals , Microplastics/metabolism , Oligochaeta/metabolism , Plastics/toxicity , Plastics/metabolism , Soil/chemistry , Agriculture
13.
Int. j. odontostomatol. (Print) ; 17(2): 186-195, jun. 2023. ilus
Article in Spanish | LILACS | ID: biblio-1440357

ABSTRACT

Establecer un protocolo de cirugía guiada estática con técnicas referenciales para ser realizado de manera predecible, repetible y simple, en todos los tipos de casos. El protocolo abreviado guiado digital para cirugía guiada estática para implantes se centra en diseñar computacionalmente una guía quirúrgica que se apoye en el tejido remanente del paciente, siendo un protocolo digital versátil para la cirugía y rehabilitación implanto protésica, basada en registros clínicos, principalmente la línea de la sonrisa y la captación de ésta en tomografía de haz cónico (CBCT), además de establecer dimensión vertical oclusal (DVO). Logrando así, planificación de implantes hasta la inserción inmediata de la prótesis temporal. Se ejemplifica el trabajo con 2 casos clínicos. Se establece un protocolo con la intención de que pueda ser realizado en pacientes desdentados parciales (Técnica de Registro Silicona) o totales (Técnica de Marcadores Tisulares en prótesis), definiendo un flujo de trabajo tridimensional, digital y optimizado, con un consecuente ahorro de tiempo clínico. Como principio del protocolo de cirugía guiada es lograr el objetivo quirúrgico - protésico deseado con alta precisión. La cirugía y rehabilitación de implantes de manera convencional es altamente dependiente del operador por lo que la alternativa de cirugía guiada de manera estática es una herramienta más para mejorar el pronóstico del paciente. Se establece un protocolo digital simple y efectivo, de cirugía guiada, para la rehabilitación implanto protésica basada en la línea de la sonrisa, tomografía de haz cónico (CBCT), dimensión vertical oclusal (DVO). Protocolo predecible y que optimiza los tiempos clínicos, logrando una rehabilitación protésica inmediata acorde e individualizada para cada paciente.


Establish a static guided surgery protocol with referential techniques to be performed in a predictable, repeatable and simple way, in all types of cases. The abbreviated digital guided protocol for static guided surgery for implants focuses on computationally designing a surgical guide that rests on the patient's remaining tissue, being a versatile digital protocol for prosthetic implant surgery and rehabilitation, based on clinical records, mainly the line of the smile and its uptake in cone beam tomography (CBCT), in addition to establishing occlusal vertical dimension (OVD). Thus achieving implant planning until the immediate insertion of the temporary prosthesis. The work is exemplified with 2 clinical cases. A protocol is established with the intention that it can be carried out in partially edentulous patients (Silicone Registration Technique) or total (Tissue Marker Technique in prostheses), defining a three-dimensional, digital and optimized workflow, with a consequent saving of time. clinical. As a principle of the guided surgery protocol, it is to achieve the desired surgical-prosthetic objective with high precision. Conventional implant surgery and rehabilitation is highly dependent on the operator, so the alternative of statically guided surgery is one more tool to improve the patient's prognosis. A simple and effective digital protocol for guided surgery is established for prosthetic implant rehabilitation based on the smile line, cone beam tomography (CBCT), and occlusal vertical dimension (OVD). Predictable protocol that optimizes clinical times, achieving an immediate and individualized prosthetic rehabilitation for each patient.


Subject(s)
Humans , Male , Female , Aged , Dental Implants , Clinical Protocols , Surgery, Computer-Assisted/methods , Smiling , Denture Design , Cone-Beam Computed Tomography
14.
PeerJ ; 11: e14892, 2023.
Article in English | MEDLINE | ID: mdl-36923504

ABSTRACT

Background: An epidemiological model (susceptible, un-quarantined infected, quarantined infected, confirmed infected (SUQC)) was previously developed and applied to incorporate quarantine measures and calculate COVID-19 contagion dynamics and pandemic control in some Chinese regions. Here, we generalized this model to incorporate the disease recovery rate and applied our model to records of the total number of confirmed cases of people infected with the SARS-CoV-2 virus in some Chilean communes. Methods: In each commune, two consecutive stages were considered: a stage without quarantine and an immediately subsequent quarantine stage imposed by the Ministry of Health. To adjust the model, typical epidemiological parameters were determined, such as the confirmation rate and the quarantine rate. The latter allowed us to calculate the reproduction number. Results: The mathematical model adequately reproduced the data, indicating a higher quarantine rate when quarantine was imposed by the health authority, with a corresponding decrease in the reproduction number of the virus down to values that prevent or decrease its exponential spread. In general, during this second stage, the communes with the lowest social priority indices had the highest quarantine rates, and therefore, the lowest effective viral reproduction numbers. This study provides useful evidence to address the health inequity of pandemics. The mathematical model applied here can be used in other regions or easily modified for other cases of infectious disease control by quarantine.


Subject(s)
COVID-19 , SARS-CoV-2 , Humans , Quarantine , COVID-19/epidemiology , Chile/epidemiology , Communicable Disease Control
15.
Allergy ; 78(5): 1169-1203, 2023 05.
Article in English | MEDLINE | ID: mdl-36799120

ABSTRACT

Asthma, rhinitis, and atopic dermatitis (AD) are interrelated clinical phenotypes that partly overlap in the human interactome. The concept of "one-airway-one-disease," coined over 20 years ago, is a simplistic approach of the links between upper- and lower-airway allergic diseases. With new data, it is time to reassess the concept. This article reviews (i) the clinical observations that led to Allergic Rhinitis and its Impact on Asthma (ARIA), (ii) new insights into polysensitization and multimorbidity, (iii) advances in mHealth for novel phenotype definitions, (iv) confirmation in canonical epidemiologic studies, (v) genomic findings, (vi) treatment approaches, and (vii) novel concepts on the onset of rhinitis and multimorbidity. One recent concept, bringing together upper- and lower-airway allergic diseases with skin, gut, and neuropsychiatric multimorbidities, is the "Epithelial Barrier Hypothesis." This review determined that the "one-airway-one-disease" concept does not always hold true and that several phenotypes of disease can be defined. These phenotypes include an extreme "allergic" (asthma) phenotype combining asthma, rhinitis, and conjunctivitis. Rhinitis alone and rhinitis and asthma multimorbidity represent two distinct diseases with the following differences: (i) genomic and transcriptomic background (Toll-Like Receptors and IL-17 for rhinitis alone as a local disease; IL-33 and IL-5 for allergic and non-allergic multimorbidity as a systemic disease), (ii) allergen sensitization patterns (mono- or pauci-sensitization versus polysensitization), (iii) severity of symptoms, and (iv) treatment response. In conclusion, rhinitis alone (local disease) and rhinitis with asthma multimorbidity (systemic disease) should be considered as two distinct diseases, possibly modulated by the microbiome, and may be a model for understanding the epidemics of chronic and autoimmune diseases.


Subject(s)
Asthma , Rhinitis, Allergic , Rhinitis , Humans , Rhinitis/diagnosis , Rhinitis/epidemiology , Rhinitis/complications , Asthma/diagnosis , Asthma/epidemiology , Asthma/etiology , Rhinitis, Allergic/complications , Allergens , Multimorbidity
16.
J Environ Manage ; 329: 117063, 2023 Mar 01.
Article in English | MEDLINE | ID: mdl-36584515

ABSTRACT

Although the use of composts derived from anaerobic digestates as soil amendments is likely to increase in the future, there is little information concerning the fate of their C and N compounds after their incorporation into soil. This work assesses C and N concentrations and the associated changes in δ15N and δ13C during the composting processes of cattle and pig slurry anaerobic digestates. In addition, the compost effect on C and N fractions and plant uptake were studied during a six-month pot experiment with rosemary plants. The results did not show δ13C and δ15N isotopic discrimination during composting, indicating a previous stabilization of cattle manure and pig slurry during the anaerobic digestion. This fact was also confirmed by the low C losses during the composting processes (1.2-fold and 1.05-fold for the composting piles with cattle and pig slurry anaerobic digestates, respectively). After soil addition, the composts augmented N values (from 0.41 g kg-1 to around 0.56 g kg-1 in low dose and 0.68 g kg-1 in high dose compost amended soils) and δ15N soil values (increases in the range of 50%-156%), but showed only slight differences in C and δ13C values compared to unfertilised control and inorganic fertilized soils. Moreover, the rosemary leaves of the plants grown on the compost amended soils presented higher N and δ15N abundance than control and inorganic fertilized plants. We conclude that δ15N abundance of anaerobic digestate composts is useful to discern its N uptake and could thus be a useful tool to detect whether organic or mineral fertiliser types were used for agricultural production.


Subject(s)
Composting , Soil , Swine , Animals , Cattle , Anaerobiosis , Agriculture/methods , Manure
17.
Rev Med Chil ; 151(9): 1255-1259, 2023 Sep.
Article in Spanish | MEDLINE | ID: mdl-39093163

ABSTRACT

We report the case of a 49-year-old man who attended the emergency department for a two-month history of compromised general condition, weight loss, abdominal pain, fever, and elevated inflammatory parameters. An imaging study demonstrates a bulky liver tumor associated with dilation of the bile duct and retroperitoneal adenopathies (hepatic hilum, intermediate, and right lumbar groups). These findings raise intrahepatic cholangiocarcinoma within the differential diagnoses, reason why segmental hepatectomy and regional lymphadenectomy were performed. Histopathology and immunochemistry revealed a lymphoplasmacytic inflammatory process with IgG4-positive plasma cells compatible with IgG4-associated disease. After the resection, expectant management was decided, with the patient evolving favorably, asymptomatic, and without signs of recurrence. We present a case and a brief literature review of an hepatic inflammatory pseudotumor, a rare entity with a benign behavior.


Subject(s)
Bile Duct Neoplasms , Cholangiocarcinoma , Granuloma, Plasma Cell , Humans , Male , Cholangiocarcinoma/pathology , Cholangiocarcinoma/diagnosis , Cholangiocarcinoma/diagnostic imaging , Middle Aged , Diagnosis, Differential , Bile Duct Neoplasms/pathology , Bile Duct Neoplasms/diagnosis , Bile Duct Neoplasms/diagnostic imaging , Granuloma, Plasma Cell/diagnosis , Granuloma, Plasma Cell/diagnostic imaging , Granuloma, Plasma Cell/pathology , Liver Diseases/pathology , Liver Diseases/diagnosis , Hepatectomy , Bile Ducts, Intrahepatic/pathology , Liver Neoplasms/pathology , Liver Neoplasms/diagnosis , Liver Neoplasms/diagnostic imaging , Tomography, X-Ray Computed
18.
Nature ; 607(7918): 301-306, 2022 07.
Article in English | MEDLINE | ID: mdl-35831604

ABSTRACT

Our understanding of the climatic teleconnections that drove ice-age cycles has been limited by a paucity of well-dated tropical records of glaciation that span several glacial-interglacial intervals. Glacial deposits offer discrete snapshots of glacier extent but cannot provide the continuous records required for detailed interhemispheric comparisons. By contrast, lakes located within glaciated catchments can provide continuous archives of upstream glacial activity, but few such records extend beyond the last glacial cycle. Here a piston core from Lake Junín in the uppermost Amazon basin provides the first, to our knowledge, continuous, independently dated archive of tropical glaciation spanning 700,000 years. We find that tropical glaciers tracked changes in global ice volume and followed a clear approximately 100,000-year periodicity. An enhancement in the extent of tropical Andean glaciers relative to global ice volume occurred between 200,000 and 400,000 years ago, during sustained intervals of regionally elevated hydrologic balance that modified the regular approximately 23,000-year pacing of monsoon-driven precipitation. Millennial-scale variations in the extent of tropical Andean glaciers during the last glacial cycle were driven by variations in regional monsoon strength that were linked to temperature perturbations in Greenland ice cores1; these interhemispheric connections may have existed during previous glacial cycles.

19.
Int J Neuropsychopharmacol ; 25(9): 701-708, 2022 09 28.
Article in English | MEDLINE | ID: mdl-35416253

ABSTRACT

BACKGROUND: Approximately 30% of individuals with schizophrenia (SZ) are resistant to conventional antipsychotic drug therapy (AP). Of these, one-third are also resistant to the second-line treatment, clozapine. Treatment resistance and refractoriness are associated with increased morbidity and disability, making timely detection of these issues critical. Variability in treatment responsiveness is partly genetic, but research has yet to identify variants suitable for personalizing antipsychotic prescriptions. METHODS: We evaluated potential associations between response to AP and candidate gene variants previously linked to SZ or treatment response. Two groups of patients with SZ were evaluated: one receiving clozapine (n = 135) and the other receiving another second-generation AP (n = 61). Single-nucleotide polymorphisms (SNPs) in the genes OXT, OXTR, CNR1, DDC, and DRD2 were analyzed. RESULTS: Several SNPs were associated with response vs. resistance to AP or clozapine. CONCLUSIONS: This is the first study of its kind, to our knowledge, in our admixed Chilean population to address the complete treatment response spectrum. We identified SNPs predictive of treatment-resistant SZ in the genes OXT, CNR1, DDC, and DRD2.


Subject(s)
Antipsychotic Agents , Clozapine , Schizophrenia , Humans , Antipsychotic Agents/therapeutic use , Clozapine/therapeutic use , Polymorphism, Single Nucleotide/genetics , Schizophrenia/diagnosis , Schizophrenia/drug therapy , Schizophrenia/genetics
20.
Int J Surg Case Rep ; 87: 106417, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34571348

ABSTRACT

INTRODUCTION AND IMPORTANCE: The ingestion of foreign bodies is a frequent cause of consultation in the emergency department, especially in pediatric and elderly patients. CASE PRESENTATION: We present the case of a 48-year-old male patient who arrived to the emergency department with dysphagia after food intake. The diagnosis is confirmed by simple neck tomography. After a failed endoscopy, he underwent surgery, with subsequent resolution of the condition. DISCUSSION: The diagnosis is based on the clinical history, physical examination and is supported by extension studies such as radiography, tomography and/or endoscopy, this last one being also therapeutic. CONCLUSION: Although in most cases there is a spontaneous passage through the gastrointestinal tract, there is the possibility of requiring endoscopy (reported success greater than 95% of cases) or surgical treatment.

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