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1.
J Virol ; 98(8): e0084824, 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39051773

RESUMEN

Varicella zoster virus (VZV) reactivates from ganglionic sensory neurons to produce herpes zoster (shingles) in a unilateral dermatomal distribution, typically in the thoracic region. Reactivation not only heightens the risk of stroke and other neurological complications but also increases susceptibility to co-infections with various viral and bacterial pathogens at sites distant from the original infection. The mechanism by which VZV results in complications remote from the initial foci remains unclear. Small extracellular vesicles (sEVs) are membranous signaling structures that can deliver proteins and nucleic acids to modify the function of distal cells and tissues during normal physiological conditions. Although viruses have been documented to exploit the sEV machinery to propagate infection, the role of non-infectious sEVs released from VZV-infected neurons in viral spread and disease has not been studied. Using multi-omic approaches, we characterized the content of sEVs released from VZV-infected human sensory neurons (VZV sEVs). One viral protein was detected (immediate-early 62), as well as numerous immunosuppressive and vascular disease-associated host proteins and miRNAs that were absent in sEVs from uninfected neurons. Notably, VZV sEVs are non-infectious yet transcriptionally altered primary human cells, suppressing the antiviral type 1 interferon response and promoting neuroinvasion of a secondary pathogen in vivo. These results challenge our understanding of VZV infection, proposing that the virus may contribute to distant pathologies through non-infectious sEVs beyond the primary infection site. Furthermore, this study provides a previously undescribed immune-evasion mechanism induced by VZV that highlights the significance of non-infectious sEVs in early VZV pathogenesis. IMPORTANCE: Varicella zoster virus (VZV) is a ubiquitous human virus that predominantly spreads by direct cell-cell contact and requires efficient and immediate host immune evasion strategies to spread. The mechanisms of immune evasion prior to virion entry have not been fully elucidated and represent a critical gap in our complete understanding of VZV pathogenesis. This study describes a previously unreported antiviral evasion strategy employed by VZV through the exploitation of the infected host cell's small extracellular vesicle (sEV) machinery. These findings suggest that non-infectious VZV sEVs could travel throughout the body, affecting cells remote from the site of infection and challenging the current understanding of VZV clinical disease, which has focused on local effects and direct infection. The significance of these sEVs in early VZV pathogenesis highlights the importance of further investigating their role in viral spread and secondary disease development to reduce systemic complications following VZV infections.


Asunto(s)
Vesículas Extracelulares , Herpesvirus Humano 3 , Herpesvirus Humano 3/inmunología , Herpesvirus Humano 3/fisiología , Vesículas Extracelulares/inmunología , Vesículas Extracelulares/metabolismo , Vesículas Extracelulares/virología , Humanos , Herpes Zóster/virología , Herpes Zóster/inmunología , Animales , MicroARNs/metabolismo , MicroARNs/genética , Células Receptoras Sensoriales/virología , Infección por el Virus de la Varicela-Zóster/inmunología , Infección por el Virus de la Varicela-Zóster/virología , Proteínas Virales/metabolismo , Activación Viral
2.
Cureus ; 16(3): e56564, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38646353

RESUMEN

Abdominal pain ranks as the predominant cause for emergency department consultations. Although rare, transvaginal evisceration of the small intestine necessitates immediate surgical intervention due to its potential to induce intestinal ischemia and peritonitis. Key risk factors include postmenopausal status, a history of gynecologic surgery, and heightened abdominal pressure. Clinical presentation typically involves pain and protrusion of intestinal contents or even abdominal viscera. Diagnosis relies on thorough clinical assessment, and treatment strategies should be tailored to each patient. Here, we describe the case of a 65-year-old female patient with a non-traumatic evisceration of the ileum, who had undergone total abdominal hysterectomy following anterior colpocele a year ago, subsequently necessitating exploratory laparotomy and repair of the vaginal ampulla.

3.
Cureus ; 16(3): e56700, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38523871

RESUMEN

Introduction Acute appendicitis is a common cause of acute abdomen and the most frequent surgical emergency in the world. Since the nineteenth century, surgical resolution has been the most accepted treatment worldwide, and laparoscopic appendectomy is currently preferred as the treatment of choice because it has several benefits. The closure of the appendiceal stump is the most crucial step during appendectomy since its inadequate management can cause post-surgical complications. Throughout recent years, several methods have been proposed to perform this closure. This study was performed to compare the post-surgical outcomes of the use of endoloop and endostapler devices. Methods This is a retrospective study of 290 patients aged 18 to 83 who underwent laparoscopic appendectomy between 2016 and 2020. Demographic data, clinical history, tomographic findings, and laboratory data were collected, as well as appendicular base management technique, severity degree of appendicitis at hospital admission, postoperative complications at 30 days, hospital readmission, and in-hospital stay. Statistical tests and binary logistic regression analyses were used to identify risk factors, with a significance level of p<0.05. Results Demographic data and clinical history did not show statistically significant differences. The presence of a pre-surgical abscess with tomography was 1.58 times higher in the endostapler group. Post-surgical results showed that the use of endostapler devices represented a 2.7 times higher risk of post-surgical abscess. The endostapler group was also found to have 1.87 times the risk of post-surgical sepsis. Conclusion Our study shows that the use of an endoloop reduces the risk of postoperative abscess by 16.5% and protects against the development of post-surgical sepsis by 30%.

4.
Microorganisms ; 12(4)2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38674696

RESUMEN

Combination antiretroviral therapy (ART) suppresses viral replication to undetectable levels, reduces mortality and morbidity, and improves the quality of life of people living with HIV (PWH). However, ART cannot cure HIV infection because it is unable to eliminate latently infected cells. HIV latency may be regulated by different HIV transcription mechanisms, such as blocks to initiation, elongation, and post-transcriptional processes. Several latency-reversing (LRA) and -promoting agents (LPA) have been investigated in clinical trials aiming to eliminate or reduce the HIV reservoir. However, none of these trials has shown a conclusive impact on the HIV reservoir. Here, we review the cellular and viral factors that regulate HIV-1 transcription, the potential pharmacological targets and genetic and epigenetic editing techniques that have been or might be evaluated to disrupt HIV-1 latency, the role of miRNA in post-transcriptional regulation of HIV-1, and the differences between the mechanisms regulating HIV-1 and HIV-2 expression.

5.
Cureus ; 16(3): e55579, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38576686

RESUMEN

Cerebrovascular diseases in pediatric patients are relatively rare. Ischemic stroke in adolescents is associated with a poor prognosis. The most common causes include systemic diseases, such as heart disease and hypercoagulation disorders. It is important to mention that one of the most common acquired hypercoagulation states is the antiphospholipid syndrome (APS). Patients with this disease may present stroke as the first clinical manifestation, which not only increases morbidity in these patients but presents a diagnostic challenge. This case presents one example of how APS can present as a pediatric stroke. The diagnostic approach should always be through the presence of specific antibodies accompanied by the presence of a thromboembolic episode proven by catheterization or an imaging study. In the brain, the preferred imaging study is magnetic resonance imaging. Management is based on anticoagulation therapy and continuous monitoring in the intensive care unit.

6.
Commun Med (Lond) ; 4(1): 79, 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38702451

RESUMEN

BACKGROUND: Bulk transcriptional profiles of early colorectal cancer (CRC) can fail to detect biological processes associated with disease-free survival (DFS) if the transcriptional patterns are subtle and/or obscured by other processes' patterns. Consensus-independent component analysis (c-ICA) can dissect such transcriptomes into statistically independent transcriptional components (TCs), capturing both pronounced and subtle biological processes. METHODS: In this study we (1) integrated transcriptomes (n = 4228) from multiple early CRC studies, (2) performed c-ICA to define the TC landscape within this integrated data set, 3) determined the biological processes captured by these TCs, (4) performed Cox regression to identify DFS-associated TCs, (5) performed random survival forest (RSF) analyses with activity of DFS-associated TCs as classifiers to identify subgroups of patients, and 6) performed a sensitivity analysis to determine the robustness of our results RESULTS: We identify 191 TCs, 43 of which are associated with DFS, revealing transcriptional diversity among DFS-associated biological processes. A prominent example is the epithelial-mesenchymal transition (EMT), for which we identify an association with nine independent DFS-associated TCs, each with coordinated upregulation or downregulation of various sets of genes. CONCLUSIONS: This finding indicates that early CRC may have nine distinct routes to achieve EMT, each requiring a specific peri-operative treatment strategy. Finally, we stratify patients into DFS patient subgroups with distinct transcriptional patterns associated with stage 2 and stage 3 CRC.


While treatments for patients with colorectal cancer have improved, many patients (around 30-50%) have cancers that will eventually relapse and these patients will die due to their disease. Researchers have been studying the genes involved in colorectal cancer to help us understand why some cancers might relapse. However, current methods to do this may miss subtle or hidden patterns in the gene activity related to cancer relapse. To deal with this, we used a special method called consensus-independent component analysis (c-ICA) to dig more deeply into the activity of genes. This helped us to uncover some potential biological processes underpinning colorectal cancer relapse, which ultimately could help researchers to identify better treatments for patients with colorectal cancer.

7.
Front Pediatr ; 12: 1284671, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38440183

RESUMEN

Introduction: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico. Methods: The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea. Results: The infant was born at term by C-section with a birth weight of 3.120 kg and height of 48 cm for consanguineous parents. She had been breastfed until day 5 of her life when she presented lethargy, diarrhea, abdominal discomfort, and jaundice. During the first evaluation at the emergency room, the significant laboratory finding was blood tyrosine elevation; afterward, amino acid and succinylacetone determinations were obtained, discarding tyrosinemia. When admitted to the hospital, an abdominal ultrasound detected a duplex collecting system. At this time, rice formula was introduced to the patient. She was discharged with jaundice improvement, but diarrhea persisted. Several formula changes had been made from rice to extensively hydrolyzed casein protein to whey-based, with no clinical improvement; the patient still had 10-12 excretions daily. In the second hospitalization, the patient presented anemia, severe dehydration, hyperammonemia, and renal tubular acidosis. A next-generation sequencing panel for inborn errors of metabolism and congenital diarrhea was performed, identifying a homozygous variant in SLC5A1 (c.1667T > C). The diagnosis of CGGM was made at 3 months of age. The infant was initially treated with a modular galactose-glucose-free formula with oil, fructose, casein, minerals, and vitamins until a commercial fructose-based formula was introduced. This led to a complete resolution of diarrhea and improved nutritional status. Discussion: Diagnosing CGGM is challenging for clinicians, and next-generation sequencing is a valuable tool for providing appropriate treatment. More detailed information on patients with this condition might lead to possible phenotype-genotype correlations. This case's primary clinical and biochemical findings were chronic diarrhea, anemia, jaundice, renal tubular acidosis, hyperammonemia, and initial hypertyrosinemia. Symptoms were resolved entirely with the fructose-based formula.

8.
J Nutr Health Aging ; 28(1): 100007, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38267158

RESUMEN

While the implementation of these initiatives varies globally and continues to face low uptake in the global south, it is crucial to underscore key ongoing efforts, particularly in developing nations. This allows us to have knowledge about progress and identify areas that require more effective strategies to advance the cause of global healthy aging. The aim of this mini-review was to describe some of the key age-friendly initiatives made in Mexico through Governmental and Non-Governmental entities to promote healthy aging, at different levels of health and social institutions, covering the healthcare systems, community, and education.


Asunto(s)
Envejecimiento Saludable , Humanos , México , Escolaridad
9.
Respir Care ; 69(8): 999-1010, 2024 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-38653555

RESUMEN

BACKGROUND: Increasing evidence suggests an association between childhood obstructive sleep apnea (OSA) and metabolic syndrome, with more research available on the potential impacts of positive airway pressure (PAP) on metabolic markers in children. The purpose of this systematic review is to provide a systematic synthesis of the evidence on the effect of PAP use on metabolic markers in children with OSA. METHODS: A search strategy with terms for "OSA" and metabolic markers in pediatrics was run to systematically assess 5 databases until August 26, 2022. Two reviewers independently screened eligible articles, extracted data, and conducted quality appraisal. Meta-analysis was done using random-effects models. Body mass index (BMI), glycemic, lipid, cardiovascular, and other metabolic and inflammatory markers were reported. RESULTS: Sixteen studies (N = 1,213) were included, 15 observational studies and 1 randomized controlled trial (RCT); most reported outcomes in children with obesity. Meta-analysis of 4 studies found no changes in BMI at median average follow-up of 12 months after PAP initiation. A reduction in heart rate and blood pressure parameters was demonstrated in several studies in children with OSA with and without obesity at a median average follow-up of 4.9 months after PAP initiation. Research in echocardiographic outcomes is limited, including one RCT in children with Down syndrome and OSA showing no changes in heart rate variability parameters. Evidence of improvements in glycemic and/or lipid control, liver enzymes, and inflammatory markers with PAP therapy is even more limited and of limited clinical importance. Risk of bias was moderate to critical and outcome evidence very low. CONCLUSIONS: Although evidence on effects of PAP on metabolic markers in children with OSA is encouraging, available literature is limited. Longitudinal studies are still required to further assess the long-term influence of PAP on metabolic and inflammatory markers, particularly in children with obesity.


Asunto(s)
Biomarcadores , Síndrome Metabólico , Apnea Obstructiva del Sueño , Humanos , Apnea Obstructiva del Sueño/terapia , Apnea Obstructiva del Sueño/sangre , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/fisiopatología , Niño , Biomarcadores/sangre , Síndrome Metabólico/sangre , Índice de Masa Corporal , Presión de las Vías Aéreas Positiva Contínua , Presión Sanguínea , Femenino , Frecuencia Cardíaca , Masculino , Glucemia/análisis , Glucemia/metabolismo , Preescolar , Adolescente , Obesidad Infantil/complicaciones , Obesidad Infantil/sangre , Obesidad Infantil/terapia , Lípidos/sangre
10.
Nutrients ; 16(11)2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38892708

RESUMEN

Propionate defects (PDs) mainly include methylmalonic (MMA) and propionic acidemia (PA) defects. Lifelong PD patients progress from the compensated to the decompensated stages, the latter of which are characterized by life-threatening acidemia and hyperammonemia crises. PD patients can suffer immunocompromise, especially during the decompensation stage. There is a significant gap in the research regarding the humoral immune response in PD patients. Here, we analyzed serum immunoglobulin concentrations and hemograms across compensated and decompensated stages in PD patients. Nutritional status and crisis triggers of decompensation were also explored. Twenty patients were studied, and 25 decompensation events (DE) and 8 compensation events (CE) were recorded. Compared with those in the CE group, the IgG levels in the DE group (513.4 ± 244.5 mg/dL) were significantly lower than those in the CE group (860.8 ± 456.5 mg/dL) (p < 0.0087). The mean hemoglobin concentration was significantly lower in the DE group (11.8 g/dL) than in the CE group (13.4 g/dL) (p < 0.05). The most frequent (48%) possible decompensation trigger factor was infection. Most of the events were registered in eutrophic patients (87.9%), despite which 65.2% and 50% of patients who experienced decompensated and compensated events, respectively, presented with hypogammaglobulinemia G. These findings provide evidence of the immunodeficiency of PD patients, independent of their nutritional status. We suggest that PD patients be managed as immunocompromised independently of their nutritional status or metabolic state (compensated or decompensated).


Asunto(s)
Agammaglobulinemia , Estado Nutricional , Humanos , Masculino , Femenino , Agammaglobulinemia/sangre , Agammaglobulinemia/inmunología , Agammaglobulinemia/complicaciones , Persona de Mediana Edad , Anciano , Inmunoglobulina G/sangre , Adulto , Propionatos/sangre , Acidemia Propiónica
11.
J Infect Public Health ; 17(9): 102516, 2024 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-39154433

RESUMEN

BACKGROUND: Toxoplasmosis is potentially avoidable, treatable, and curable by simple and direct preventive measures. Knowledge, attitudes, and practices (KAP) assessments concerning gestational toxoplasmosis were evaluated in a cohort of pregnant women from Armenia-Quindío (Colombia, South America). METHODS: This cross-sectional descriptive KAP-type study was performed with informed consent between October 2021 and March 2022. The intervention involved a ten-minute talk administered by prenatal clinic nurses to pregnant women. This took place in the public health clinic RedSalud and the private clinic Happy Maternity with a post-KAP survey after pregnancy. RESULTS: The findings of the initial KAP survey revealed that approximately 42.8 % of the 250 mothers surveyed had IgG anti-T. gondii antibodies present. A strong correlation was observed between a lower frequency of antibodies and a higher level of education. Following an educational intervention, 73 seronegative women demonstrated a significant improvement in their knowledge and behavior. Among the 111 mothers who received the intervention, 42 (37 %) were followed until delivery. Unfortunately, their level of compliance with prenatal serological follow-up was lower compared to previous historical records of cohort of mothers in the same health center during pre-pandemic periods. No seroconversion occurred, although the small number of cases makes the outcome inconclusive with respect to statistical significance. CONCLUSIONS: Education plays a crucial role in imparting valuable knowledge and fostering effective practices. It holds significant potential to prevent toxoplasmosis in pregnant seronegative mothers. Prenatal check-ups have proven to be a critical determinant in leveraging the benefits of education for seronegative mothers. Reporting and observed behaviors differed, identifying areas for improvement.

12.
Sci Rep ; 14(1): 5428, 2024 03 05.
Artículo en Inglés | MEDLINE | ID: mdl-38443427

RESUMEN

Dietary interventions can reduce progression to type 2 diabetes mellitus (T2DM) in people with non-diabetic hyperglycaemia. In this study we aimed to determine the impact of a DNA-personalised nutrition intervention in people with non-diabetic hyperglycaemia over 26 weeks. ASPIRE-DNA was a pilot study. Participants were randomised into three arms to receive either (i) Control arm: standard care (NICE guidelines) (n = 51), (ii) Intervention arm: DNA-personalised dietary advice (n = 50), or (iii) Exploratory arm: DNA-personalised dietary advice via a self-guided app and wearable device (n = 46). The primary outcome was the difference in fasting plasma glucose (FPG) between the Control and Intervention arms after 6 weeks. 180 people were recruited, of whom 148 people were randomised, mean age of 59 years (SD = 11), 69% of whom were female. There was no significant difference in the FPG change between the Control and Intervention arms at 6 weeks (- 0.13 mmol/L (95% CI [- 0.37, 0.11]), p = 0.29), however, we found that a DNA-personalised dietary intervention led to a significant reduction of FPG at 26 weeks in the Intervention arm when compared to standard care (- 0.019 (SD = 0.008), p = 0.01), as did the Exploratory arm (- 0.021 (SD = 0.008), p = 0.006). HbA1c at 26 weeks was significantly reduced in the Intervention arm when compared to standard care (- 0.038 (SD = 0.018), p = 0.04). There was some evidence suggesting prevention of progression to T2DM across the groups that received a DNA-based intervention (p = 0.06). Personalisation of dietary advice based on DNA did not result in glucose changes within the first 6 weeks but was associated with significant reduction of FPG and HbA1c at 26 weeks when compared to standard care. The DNA-based diet was effective regardless of intervention type, though results should be interpreted with caution due to the low sample size. These findings suggest that DNA-based dietary guidance is an effective intervention compared to standard care, but there is still a minimum timeframe of adherence to the intervention before changes in clinical outcomes become apparent.Trial Registration: www.clinicaltrials.gov.uk Ref: NCT03702465.


Asunto(s)
Diabetes Mellitus Tipo 2 , Hiperglucemia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Diabetes Mellitus Tipo 2/prevención & control , ADN , Glucosa , Hemoglobina Glucada , Proyectos Piloto , Anciano
13.
Bol Med Hosp Infant Mex ; 81(Supl 1): 1-13, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39009030

RESUMEN

INTRODUCTION: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing. METHOD: A consensus was reached with experts in the field of inborn errors of metabolism (EIM), including eight pediatric gastroenterologists, two EIM specialists, two geneticists, three pediatric nutritionists specialized in EIM, and a pediatric surgeon specializing in transplants. Six working groups were tasked with formulating statements and justifications, and 32 statements were anonymously voted on using the Likert scale and the Delphi method. The first virtual vote achieved an 80% consensus, with the remaining 20% determined in person. RESULTS: The statements were categorized into epidemiology, clinical presentation, diagnosis, nutritional and medical treatment, and genetic counseling. CONCLUSIONS: This consensus serves as a valuable tool for primary care physicians, pediatricians, and pediatric gastroenterologists, aiding in the prompt diagnosis and treatment of this disease. Its impact on the morbidity and mortality of patients with tyrosinemia type 1 is substantial.


INTRODUCCIÓN: La tirosinemia tipo 1 es una enfermedad rara, con herencia autosómica recesiva, con múltiples manifestaciones clínicas, que pueden comprender desde falla hepática aguda neonatal, síndrome colestásico neonatal, hepatitis crónica, cirrosis o hepatocarcinoma, hasta alteraciones renales como acidosis tubular renal, síndrome de Fanconi o raquitismo hipofosfatémico, entre otras. El diagnóstico se basa en la presencia de metabolitos tóxicos en la sangre y la orina, idealmente con la confirmación molecular de la enfermedad. MÉTODO: Se realizó un consenso con expertos en el área de los errores innatos del metabolismo (EIM): ocho gastroenterólogos pediatras, dos médicos especialistas en EIM, dos genetistas, tres nutriólogas pediatras especializadas en EIM y un cirujano pediatra especialista en trasplantes. Se formaron seis mesas de trabajo encargadas de desarrollar los enunciados con sus justificaciones y fueron votados anónimamente 32 enunciados en una escala Likert con un método Delphi. La primera votación fue virtual, obteniendo consenso del 80% de los enunciados, y la segunda fue presencial, obteniendo el 20% restante. RESULTADOS: Los enunciados fueron divididos en epidemiología, cuadro clínico, diagnóstico, tratamiento nutricional y médico, y consejo genético. CONCLUSIONES: Este consenso constituye una valiosa herramienta para los médicos de atención primaria, pediatras y gastroenterólogos pediátricos, ya que ayuda a diagnosticar y tratar rápidamente esta enfermedad. Su impacto en la morbilidad y mortalidad de los pacientes con tirosinemia tipo 1 es sustancial.


Asunto(s)
Consenso , Tirosinemias , Humanos , Tirosinemias/diagnóstico , Tirosinemias/terapia , México , Recién Nacido , Técnica Delphi , Asesoramiento Genético
14.
Children (Basel) ; 10(12)2023 Nov 28.
Artículo en Inglés | MEDLINE | ID: mdl-38136067

RESUMEN

Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood concentration exceeds 360 µmol/L (6 mg/dL). Here, we describe a female HPA patient who was born in Mexico to Cuban non-consanguineous parents and identified by newborn screening, and who bears the previously unreported PAH NM_000277.3(PAH):c.[229T>C];[1222C>T] or p.[Tyr77His];[Arg408Trp] genotype. At diagnosis, the patient showed a Phe blood level of 321 µmol/L (5.3 mg/dL), indicative of mild HPA. Neither of the PAH variants found in this patient had been previously reported in the mutational PAH spectrum of the Mexican population. The c.229T>C or p.(Tyr77His) PAH variant was previously related to mild HPA in the Swedish population. Our in silico structural analysis and molecular docking showed that mutated His 77 residue is located in the allosteric site of PAH at the interface of the two monomers. The PDBsum in silico tool predicted that this variant would cause minimal structural disturbance of the protein interface in the presence of Phe at the allosteric site. Docking studies revealed that these structural changes might be attenuated by the allosteric effect of Phe. Given the classic PKU phenotype conditioned by the "Celtic" or c.[1222C>T] or p.(Arg408Trp) PAH variant, which is the second variant in this patient, we propose that p.(Tyr77His) has a hypomorphic feature that could explain her mild HPA phenotype. Our results show the importance of following up on cases detected by NBS and the value of genetic studies and in silico tools that aid in the establishment of correct therapeutic strategies.

15.
Front Nutr ; 10: 1338601, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38249596

RESUMEN

Aims: To evaluate the synergistic impact of diet, lifestyle and technology on glycemic control in children with type 1 diabetes (T1D). Methods: This cross-sectional study included 112 randomly selected patients with T1D from Gran Canaria (median age 12 years; 51.8% female). The study collected data on height, weight, body composition (bioimpedance), age, disease duration, and method of insulin delivery. Physical activity was evaluated using the Krece questionnaire and an accelerometer (GENEActiv). Adherence to the Mediterranean diet was assessed using the KIDMED Quick Nutrition Test. Glycemic control was evaluated using HbA1c and the percentage of time in range. SPSS version 21 and RStudio were used for statistical analysis of the data. Stepwise linear regression analysis (backwards) was used to identify factors independently associated with metabolic control. Results: Insulin pump use, age and adherence to the Mediterranean diet were found to be significantly and independently associated with better glycemic control, whereas years with T1D was associated with worse HbA1c values. No relationship was found between body composition and physical activity measured by accelerometry or questionnaire. Conclusion: Adherence to the Mediterranean diet, insulin delivery methods, age, and number of years with T1D are important factors to consider in the management of T1D in children.

17.
Rev. biol. trop ; 72(1): e52916, ene.-dic. 2024. tab, graf
Artículo en Español | SaludCR, LILACS | ID: biblio-1559320

RESUMEN

Resumen Introducción: Varias presiones antrópicas sufren los ecosistemas acuáticos del piedemonte llanero en Colombia. La respuesta a estresores ambientales aún se desconoce en organismos bioindicadores como Leptohyphidae. Objetivo: Determinar la diversidad de ninfas de Leptohyphidae del río Quenane-Quenanito, en dos periodos hidrológicos contrastantes y su relación con algunas variables fisicoquímicas. Métodos: En diciembre (2014) y febrero (2015) se recolectaron organismos con red Surber en seis estaciones a lo largo del río. Se analizó la diversidad alfa y beta y se aplicó análisis de redundancia y modelos lineales generalizados con el fin de establecer la relación entre los taxones y las variables ambientales. Resultados: Se identificaron 369 organismos pertenecientes a cuatro géneros (Amanahyphes, Traverhyphes, Tricorythopsis y Tricorythodes), dos especies y ocho morfoespecies. Se reporta por primera vez para el departamento del Meta Amanahyphes saguassu. Se registró la mayor diversidad de ninfas en la transición a la sequía y la mayor abundancia en sequía. La diversidad beta señaló que la configuración del ensamblaje cambia a nivel espacial y temporal. Conclusiones: Los organismos de Leptohyphidae prefieren hábitats de corrientes, particularmente en el periodo de sequía, donde hallan alimento (hojarasca, detritos) y refugio para establecerse exitosamente; actividades antrópicas como la urbanización afectan notablemente la diversidad. La alta diversidad registrada en este pequeño río de piedemonte llanero refleja la necesidad de incrementar este tipo de trabajos y esfuerzos de recolección de material de estudio en la región.


Abstract Introduction: Various anthropic pressures affect the aquatic ecosystems of the foothills of Colombia. The response to environmental stressors is still unknown in bioindicator organisms such as Leptohyphidae. Objective: To determine the diversity of Leptohyphidae nymphs of the Quenane-Quenanito river, in two contrasting hydrological periods and its relationship with some physicochemical variables. Methods: In December (2014) and February (2015), organisms were collected with a Surber net at six stations along the current. Alpha and beta diversity was analyzed and redundancy analysis and generalized linear model were applied to establish the relationship between taxa and environmental variables. Results: Were identified 369 organisms belonging to four genera (Amanahyphes, Traverhyphes, Tricorythopsis, and Tricorythodes), two species, and eight morphospecies. Amanahyphes saguassu is reported for the first time for the Meta department. High diversity of Leptohyphidae nymphs was recorded in the transition to drought season and greater abundance in drought. Beta diversity indicated that the configuration of the assemblage changes spatially and temporally. Conclusions: Leptohyphidae organisms prefer fast habitats, particularly in the dry period where they find food (leaf litter, detritus) and shelter to establish themselves successfully; anthropic activities such as urbanization notably affect diversity. The high diversity recorded in this small river in the foothills of the plains reflects the need to increase this type of works and collection efforts of study material in the region.


Asunto(s)
Animales , Ephemeroptera/clasificación , Calidad del Agua , Colombia , Insectos/clasificación
18.
Salud ment ; 46(2): 89-95, Mar.-Apr. 2023. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1450419

RESUMEN

Abstract Introduction The Ryff Scale of Psychological Well-Being is the most widely used instrument for assessing the eudemonic perspective of well-being. Although it has been adapted for the Spanish population, it has not been modified for health science students in the Mexican population. Objective Adapt and obtain the psychometric properties of this scale for medical students in the Mexican population. Method The study was conducted with 1,974 undergraduate students, 1,551 from the UNAM Medicine Faculty and 423 from the La Salle University Mexican School of Medicine. The analysis was undertaken using the IBM SPSS Statistics 21 and AMOS 21 SPSS programs. Results An instrument with a robust structure derived from the exploratory and confirmatory factor analyses carried out was obtained, with satisfactory explained variance, adequate internal consistency obtained through the Cronbach's alpha coefficient, and appropriate discrimination. Discussion and conclusion Our adaptation is a suitable version for Mexican medical students with four final dimensions; purpose in life, personal rejection and self-acceptance, personal control, and personal growth.


Resumen Introducción La Escala de Bienestar Psicológico de Carol Ryff es la más utilizada para evaluar la perspectiva eudaimónica de bienestar. Si bien se ha adaptado para población española no se ha adaptado para estudiantes de ciencias de la salud de población mexicana. Objetivo Realizar adaptación y obtener propiedades psicométricas de esta escala para estudiantes de medicina de población mexicana. Método El estudio se desarrolló con 1974 estudiantes de pregrado, 1551 de la Facultad de Medicina de la UNAM y 423 de la Escuela Mexicana de Medicina de la Universidad La Salle. El análisis desarrollado se realizó mediante el programa IBM SPSS Statistics 21 y AMOS 21 de SPSS. Resultados Se obtuvo un instrumento con una estructura sólida derivada de los análisis factoriales exploratorios y confirmatorios desarrollados, con una varianza explicada satisfactoria, una consistencia interna obtenida mediante el coeficiente alfa de Cronbach adaptada y una discriminación favorable. Discusión y conclusión El artículo es una adaptación del instrumento adecuada para estudiantes de medicina mexicanos con cuatro dimensiones finales; proyecto de vida, rechazo personal y auto aceptación, control personal y crecimiento personal.

19.
Salud ment ; 46(3): 131-136, May.-Jun. 2023. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1522908

RESUMEN

Abstract Introduction Little information from developing countries during the first lockdown for COVID-19 is available. We hypothesized that the use of communication tools, and not living alone would provide a protective effect against DS. Objective To determine the association between social connections and depressive symptoms (DS) during the first lockdown period among Mexican community-dwelling older adults. Method Cross-sectional phone survey including 269 participants aged 65 years or older. Participants were asked about their social connections and the presence of DS during the first lockdown for COVID-19. Results Mean age was 83.2 (SD = 6.7). Compared with those without DS, those with DS reported a greater number of phone calls or videocalls although this was not statistically significant. However, when stratifying by housing situation, only the participants who lived alone and that received less calls from friends had more DS (p = .04). Discussion and conclusion Living alone allowed the participants not to have much contact with family and this caused friends to represent the most important social relationship outside the home. We hypothesize that the means to stay socially active for older adults in Latin America are different and have a different impact. Because, DS only were present among the participants who reported living alone and having fewer calls from friends during the confinement period.


Resumen Introducción Hay poca información disponible sobre los países en desarrollo durante el primer período de confinamiento por COVID-19. Planteamos la hipótesis de que el uso de herramientas de telecomunicación y vivir acompañado proporciona un efecto protector frente a la presencia de síntomas depresivos (SD). Objetivo Determinar la asociación entre las conexiones sociales y los SD durante el primer período de confinamiento en adultos mayores mexicanos que viven en la comunidad. Método A través de un estudio transversal, 269 participantes de 65 años o más completaron una encuesta telefónica sobre sus conexiones sociales y la presencia de SD durante el primer período de confinamiento por COVID-19. Resultados La edad media fue de 83.2 (DE = 6.7). En comparación con los que no tenían SD, los que tenían SD reportaron un mayor número de llamadas telefónicas o videollamadas, pero esto no fue estadísticamente significativo. Sin embargo, al estratificar por situación de vivienda, los participantes que vivían solos y que recibían menos llamadas de amigos tenían más SD (p = .04). Discusión y conclusión Vivir solo permitió a los participantes no tener mucho contacto con la familia y esto provocó que los amigos representaran la relación social más importante fuera del hogar. Creemos que los medios para mantenerse socialmente activos de los adultos mayores en América Latina son diferentes y tienen un impacto diferente. Debido a que los SD solo estuvieron presentes entre los participantes que reportaron vivir solos y tener menos llamadas de amigos durante período de confinamiento.

20.
MHSalud ; 20(2): 63-74, Jul.-Dec. 2023. tab
Artículo en Español | LILACS, SaludCR | ID: biblio-1558375

RESUMEN

Resumen: Introducción: La enfermedad de Parkinson (EP) es un trastorno neurológico y progresivo caracterizado por síntomas motores y no motores que influyen en el deterioro de la calidad de vida. Objetivo: Esta investigación tiene como objetivo analizar los efectos de un programa de intervención multicomponente basado en la actividad física y el deporte en la funcionalidad de personas con EP, tanto con alta como con baja afectación. Metodología: Para ello, 16 personas (13 hombres y 3 mujeres) con EP participaron en este estudio, dividiéndose en 2 grupos según su nivel de afectación, el de baja (GBA, n = 12) y el de alta (GAA, n = 4). Se realizó una intervención de un programa de ejercicio físico multicomponente a todos los participantes durante 4 semanas (2 sesiones de 50 minutos, por semana). Se realizó una batería de test funcionales (Six minutes walk test (6MWT); Single-leg Stance test (SLS); Time Up and Go (TUG) y The five times sitto-stand Chair (FTSTS)) una semana antes (T1) y una semana después de la intervención (T2). Resultados: El total de la muestra mejoró significativamente en el test SLS (P < 0.05; d > 0.56, moderado). Sin embargo, analizando cada grupo, de conformidad con su nivel de afectación, el grupo GBA obtuvo mejoras significativas en SLS y 5STS (d= 0.44 - 0.68, p < 0.05), mientras que no se observaron diferencias significativas en el grupo GAA en ninguna variable analizada. Conclusiones: Los resultados del presente estudio muestran la necesidad de realizar más estudios con programas de larga duración y más frecuencia semanal.


Abstract: Introduction: Parkinson's disease (PD) is a progressive neurological disorder characterized by motor and non-motor symptoms that influence the impairment of quality of life. Objective: This research aims to analyze the effects of a multicomponent intervention program based on physical exercise and sport on the physiological functions of people with PD, both with high and low impairment. Methodology: For this purpose, sixteen people (13 men and 3 women) with PD participated in this study, divided into two groups according to their level of impairment, low (GBA, n = 12) and high (GAA, n = 4). A multicomponent physical exercise program intervention was administered to all participants for 4 weeks (2 sessions of 50 minutes per week). A battery of functional tests (Six minutes walk test (6MWT); Single-leg Stance test (SLS); Time Up and Go (TUG) and The five times sit-to-stand Chair (FTSTS)) was performed one week before (T1) and one week after the intervention (T2). Results: The total sample improved significantly on the SLS test (P < 0.05; d > 0.56, moderate). However, analyzing each group according to their level of impairment, the GBA group obtained significant improvements in SLS and 5STS (d= 0.44 - 0.68, P < 0.05), while no significant differences were observed in the GAA group in any of the variables analyzed. Conclusion: The results of the present study show the need for further studies with longer duration and more frequent weekly programs.


Resumo: Introdução: A doença de Parkinson (DP) é um distúrbio neurológico progressivo, caracterizado por sintomas motores e não motores que influenciam a deterioração da qualidade de vida. Objetivo: Esta pesquisa visa analisar os efeitos de um programa de intervenção multicomponente baseado na atividade física e no esporte sobre a funcionalidade das pessoas com DP, tanto com deficiência alta quanto baixa. Metodologia: Para este fim, 16 pessoas (13 homens e 3 mulheres) com DP participaram deste estudo, divididos em dois grupos de acordo com seu nível de afecção, o baixo (GBA, n = 12) e o alto (GAA, n = 4). Uma intervenção de um programa de exercícios físicos multicomponentes foi realizada com todos os participantes durante 4 semanas (2 sessões de 50 minutos por semana). Uma bateria de testes funcionais (Six minutes walk test (6MWT); Single-leg Stance test (SLS); Time Up and Go (TUG) y The five times sit-to-stand Chair (FTSTS)) foi realizada uma semana antes (T1) e uma semana após a intervenção (T2). Resultados: A amostra total melhorou significativamente no teste SLS (P < 0,05; d > 0,56, moderado). Não obstante, analisando cada grupo de acordo com seu nível de deficiência, o grupo GBA obteve melhorias significativas no SLS e 5STS (d= 0,44 - 0,68, p < 0,05), mas não se observaram diferenças significativas no grupo GAA em nenhuma variável analisada. Conclusões: Os resultados do presente estudo mostram a necessidade de mais estudos com programas de maior duração e mais frequência semanal.


Asunto(s)
Humanos , Masculino , Femenino , Enfermedad de Parkinson , Ejercicio Físico , España
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