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1.
Cuad. psicol. deporte ; 23(1): 116-128, ene.-abr. 2023. tab
Article in Spanish | IBECS | ID: ibc-214814

ABSTRACT

El presente trabajo explora los efectos que el confinamiento por COVID-19 tuvo en el colectivo de árbitros de élite españoles que fueron designados para la finalización de las competiciones de la temporada 2019-2020 de las máximas categorías de sus respectivos deportes: la liga de baloncesto ACB (N= 19) y las principales ligas de fútbol sala (N= 32), que se llevaron a cabo en régimen de concentración, tras levantarse las primeras medidas de aislamiento, durante la primera ola de la pandemia. Para conocer los efectos del confinamiento, los participantes respondieron un cuestionario ad hoc, y el cuestionario PANAS para conocer su estado de ánimo. Los resultados mostraron que los aspectos que el colectivo más echó en falta por el cese de la actividad deportiva fueron la competición, el arbitraje y los compañeros. Se hallaron diferencias significativas entre árbitros de ambos colectivos, siendo el tamaño del efecto de estas diferencias pequeño en la variable competición (r = 0.278) y medio en compañeros (r =0.446). Los aspectos que más les preocuparon fueron la salud de sus seres queridos y la economía global, encontrándose diferencias significativas y un tamaño del efecto medio entre árbitros de ambos deportes respecto a la salud de sus seres queridos (r = 0.44). Las competencias que esperaban tener más afectadas debido a la inactividad eran las físicas y las psicológicas,hallándose diferencias significativas entre ambos deportes y con un tamaño del efecto pequeño en las psicológicas (r = 0.44). Dentro de las competencias psicológicas, esperaban tener más afectadas la concentración y la toma de decisiones, hallándose diferencias significativas y un tamaño del efecto medio entre los árbitros de ambos deportes en cuanto a la toma de decisiones (r= 0.321). (AU)


This work explores the effects that lockdown by COVID-19 had on the group of elite Spanish referees who were selected to officiate the completion of the 2019-2020 season competitions of the highest categories of their respective sports: the ACB basketball league (N= 19) and the main futsal leagues (N= 32), which were carried out with all participants, athletes and referees, coming together in special health measures conditions, after lifting the first lockdown measures, during the first wave of the pandemic. To know the effects of the lockdown, respondents answered an ad hoc survey, and the PANAS scales to know their mood. The results showed that the aspects the group missed the most due to the cessation of sporting activity were competition, refereeing and teammates. Significant differences were found between referees of both groups, the effect size of these differences wassmall in the competition variable (r= 0.278) and medium in teammates (r= 0.446). The aspects that concerned them the most were their loved ones’ health and the global economy, finding significant differences and a medium effect size between referees of both sports regarding the health of their loved ones (r= 0.44). The competencies that they expected to be most affected by inactivity were physical and psychological, finding significant differences between both sports, with a small effect size in the psychological ones (r= 0.44). Among the psychological competences, they expected to be most affected concentration and decision making, finding significant differences and a medium effect size between the referees of both sports in terms of decision making (r= 0.321). (AU)


Este trabalho explora os efeitos que o confinamento devido ao COVID-19 teve sobre os árbitros de elite espanhóis que foram nomeados para arbitrar a conclusão das competições da temporada 2019-2020 das categorias mais altas de basquete: Liga ACB (N=19); e as principais ligas de futsal (N= 32), que foram realizadas em regime de confinamento, reunindo-se em condições especiais de medidas de saúde, após o levantamento das primeiras medidas de isolamento, durante a primeira onda da pandemia. Para conhecer os efeitos do confinamento, os participantes responderam a um questionário ad hoc, e ao questionário PANAS para conhecer seu estado de espírito. Os resultados mostraram que os aspectos que o grupo mais sentiu falta com a cessação da atividade esportivaforam competição, arbitragem e companheiros de equipe. Diferenças significativas foram encontradas entre os árbitros de ambos os grupos, sendo o tamanho do efeito dessas diferenças pequeno na variável competição (r = 0.278) e médio nos pares (r = 0.446). Os aspectos que mais os preocupavam eram a saúde de seus entes queridos e a economia global, encontrando se diferenças significativas e um tamanho de efeito médio entre árbitros de ambos os esportes em relação à saúde de seus entes queridos (r = 0.44). As faculdades que esperavam ser mais afetadas pela inatividade eram físicas e psicológicas, encontrando diferenças significativas entre os dois esportes e com tamanho de efeito pequeno nos psicológicos (r = 0.44). Dentro das habilidades psicológicas, espera-se que seja mais afetado a concentração e tomada de decisão, encontrando diferenças significativas e um tamanho de efeito médio entre os árbitros de ambos os esportes em termos de tomada de decisão (r= 0.321). (AU)


Subject(s)
Humans , Male , Female , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and over , Pandemics , Coronavirus Infections/epidemiology , Coronavirus Infections/psychology , Athletes , Spain , Surveys and Questionnaires , Cross-Sectional Studies
2.
Rehabilitación (Madr., Ed. impr.) ; 55(4): 282-290, oct. - dic. 2021. tab
Article in Spanish | IBECS | ID: ibc-227783

ABSTRACT

Uno de los principales roles de la prescripción de actividad física para personas con diabetes tipo 2 es reducir la hiperglucemia. El efecto beneficioso que otorga el entrenamiento físico sobre el nivel glucémico es considerado como la suma de los efectos de cada sesión de ejercicio. Una mejor comprensión de las respuestas agudas al ejercicio, a través de la variabilidad glucémica a corto plazo, podría explicar las diferencias en los resultados de distintos protocolos de entrenamiento. El objetivo del estudio fue analizar la información científica de distintos protocolos de ejercicio y su asociación con la variabilidad glucémica a corto plazo en los pacientes diabéticos tipo 2. Se realizó una revisión sistemática de estudios publicados en idioma inglés y español; los buscadores científicos utilizados fueron: PubMed, Cochrane, ScienceDirect y Medline. Solo se incluyeron estudios realizados en adultos (mayores de 18 años). Se identificaron 36 estudios, los cuales se analizaron y completaron utilizando la plataforma Covidence®, incluyendo para el análisis final 10 artículos y sumando un total de 296 pacientes. Los 10 artículos incluidos fueron divididos acorde al tipo de protocolo de intervención utilizado: grupo 1, ejercicio agudo, y grupo 2, entrenamiento. Se encontraron diferencias significativas sobre la variabilidad glucémica en el 71,4% de los artículos del grupo 1 y en el 100% de los artículos incluidos en el grupo 2. Se demuestran efectos positivos del ejercicio agudo y del entrenamiento físico sobre la variabilidad glucémica a corto plazo, siendo más contundentes los hallazgos en los protocolos de intervención que con base en entrenamiento físico (AU)


One of the main roles of the prescription of physical activity for people with type 2 diabetes is to reduce hyperglycemia. The beneficial effect of physical training on glycemic levels is considered as the sum of the effects of each exercise session. A better understanding of acute responses to exercise, through short-term glycemic variability, could explain the differences in the results of distinct training protocols. The objective of this study was to analyze the scientific information on different exercise protocols and their association with short-term glycemic variability in patients with type 2 diabetes. A systematic review of studies published in English and Spanish was carried out. The databases used were PubMed, Cochrane, ScienceDirect, and Medline. Only studies conducted in adults (older than 18 years) were included. A total of 36 studies were identified, which were analyzed and completed using the Covidence® platform. The final analysis included 10 articles with 296 patients. The 10 included articles were divided according to the type of intervention protocol used: group 1, acute exercise, and group 2, training. Significant differences were found in glycemic variability in 71.4% of the articles in group 1 and in 100% of the articles included in group 2. Positive effects of acute exercise and physical training on short-term glycemic variability were demonstrated. The findings were more pronounced in the intervention protocols than in physical training (AU)


Subject(s)
Humans , Diabetes Mellitus, Type 2/therapy , Hyperglycemia/prevention & control , Blood Glucose , Exercise
4.
Arch Soc Esp Oftalmol (Engl Ed) ; 96(6): 337-341, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34092289

ABSTRACT

A series is presented of sixteen cases of retinal capillary haemangioma (RCH) from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were seven primary haemangioblastomas, and nine due to von Hippel-Lindau disease (VHL). All cases associated with VHL already had systemic manifestations, such as, cerebellar, medullary and renal tumours. Treatment of capillary haemangiomas must be individualised, based on several factors, including the number of lesions, exudation, or presence of retinal detachment. A multidisciplinary approach is essential.


Subject(s)
Hemangioblastoma , Hemangioma, Capillary , Retinal Neoplasms , von Hippel-Lindau Disease , Humans , Mexico/epidemiology , Retinal Neoplasms/therapy
5.
Arch. Soc. Esp. Oftalmol ; 96(6): 337-341, jun. 2021. ilus, tab
Article in Spanish | IBECS | ID: ibc-217842

ABSTRACT

Se presenta una serie de 16 casos de hemangioma capilar retiniano de pacientes valorados en un hospital oftalmológico de enseñanza en la Ciudad de México: 7 de ellos eran hemangioblastomas primarios y 9 eran secundarios a enfermedad de von Hippel-Lindau. Todos los casos relacionados con esta enfermedad presentaban en ese momento manifestaciones sistémicas como: tumores cerebelosos, medulares o renales. El tratamiento para el hemangioma capilar retiniano debe ser individualizado con base en diversos factores como el número de lesiones, la exudación o la presencia de desprendimiento de retina asociado. Se debe de contar con un abordaje multidisciplinario (AU)


A series is presented of 16 cases of retinal capillary haemangioma from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were 7 primary haemangioblastomas, and 9 due to von Hippel-Lindau disease. All cases associated with this disease already had systemic manifestations, such as cerebellar, medullary and renal tumours. Treatment of capillary haemangiomas must be individualised, based on several factors, including the number of lesions, exudation, or presence of retinal detachment. A multidisciplinary approach is essential (AU)


Subject(s)
Humans , Male , Female , Young Adult , Adult , Middle Aged , Hemangioma, Capillary/therapy , Retinal Neoplasms/therapy , von Hippel-Lindau Disease/therapy , Hemangioblastoma/therapy , Treatment Outcome , Mexico
6.
Rehabilitacion (Madr) ; 55(4): 282-290, 2021.
Article in Spanish | MEDLINE | ID: mdl-33865613

ABSTRACT

One of the main roles of the prescription of physical activity for people with type 2 diabetes is to reduce hyperglycemia. The beneficial effect of physical training on glycemic levels is considered as the sum of the effects of each exercise session. A better understanding of acute responses to exercise, through short-term glycemic variability, could explain the differences in the results of distinct training protocols. The objective of this study was to analyze the scientific information on different exercise protocols and their association with short-term glycemic variability in patients with type 2 diabetes. A systematic review of studies published in English and Spanish was carried out. The databases used were PubMed, Cochrane, ScienceDirect, and Medline. Only studies conducted in adults (older than 18 years) were included. A total of 36 studies were identified, which were analyzed and completed using the Covidence® platform. The final analysis included 10 articles with 296 patients. The 10 included articles were divided according to the type of intervention protocol used: group 1, acute exercise, and group 2, training. Significant differences were found in glycemic variability in 71.4% of the articles in group 1 and in 100% of the articles included in group 2. Positive effects of acute exercise and physical training on short-term glycemic variability were demonstrated. The findings were more pronounced in the intervention protocols than in physical training.


Subject(s)
Diabetes Mellitus, Type 2 , Hyperglycemia , Adult , Blood Glucose , Diabetes Mellitus, Type 2/therapy , Exercise , Humans , Hyperglycemia/prevention & control
7.
Rev. chil. endocrinol. diabetes ; 13(4): 170-176, 2020. tab
Article in Spanish | LILACS | ID: biblio-1123624

ABSTRACT

La diabetes mellitus ha sido asociado a una mayor probabilidad de enfermedad más grave por Covid-19. Los estudios epidemiológicos evidencian que los pacientes diabéticos tienen un riesgo mayor de un cuadro grave que requiera UCI, ventilación mecánica y probabilidad de morir. Un buen control metabólico parece fundamental para disminuir este riesgo. En el caso del manejo ambulatorio es importante asegurar la continuidad de los tratamientos crónicos, medir los niveles de glicemia capilar y minimizar la posibilidad de infección. En caso de infección por SARS-Cov2 el paciente diabético deberá hacer los ajustes necesarios en su tratamiento tanto para lograr un control glicémico adecuado como para disminuir los riesgos de algunos fármacos antidiabéticos. El uso de telemedicina constituye una excelente herramienta para facilitar el logro de los objetivos terapéuticos. En caso de requerir hospitalización, se ha evidenciado que los pacientes diabéticos tienen altos requerimientos de insulina y rápida tendencia a producir cetosis. Considerando la situación actual de pandemia las metas intrahospitalarias pueden ser más laxas y seguras, en especial en pacientes no críticos. En caso de pacientes críticos idealmente se debe mantener las metas glicémicas entre 140-180 mg/dL.


Diabetes mellitus has been associated with a higher probability of severe disease due to Covid-19. Epidemiological studies show that diabetic patients have an increased risk of a serious condition requiring ICU, mechanical ventilation and of course the probability of dying. Good metabolic control seems essential to reduce this risk. In the case of outpatient management, it is very important to ensure the continuity of chronic treatments, measure capillary blood glucose levels and minimize the possibility of infection. In case of SARS-Cov2 infection, the diabetic patient should make the necessary adjustments in their treatment, both to achieve adequate glycemic control and to reduce the risks of some antidiabetic drugs. Telemedicine is an excellent tool to facilitate the achievement to therapeutic goals. In case of requiring hospitalization, it has been shown that diabetic patients have high insulin requirements and rapid tendency to produce ketosis. Considering the current situation of a pandemic, intrahospital goals may be laxer and safer, especially in non-critically ill patients. In the case of critically ill patients, the glycemic goals should ideally be maintained between 140-180 mg/dL.


Subject(s)
Humans , Pneumonia, Viral/epidemiology , Coronavirus Infections/epidemiology , Diabetes Mellitus/epidemiology , Outpatients , Pneumonia, Viral/physiopathology , Pneumonia, Viral/therapy , Risk , Coronavirus Infections/physiopathology , Coronavirus Infections/therapy , Diabetes Mellitus/physiopathology , Diabetes Mellitus/therapy , Hospital Care , Pandemics , Ambulatory Care , Betacoronavirus , Inpatients
8.
Parasitology ; 146(2): 187-196, 2019 02.
Article in English | MEDLINE | ID: mdl-30113011

ABSTRACT

This is the first report on the development and characterization of eight monoclonal antibodies (MABs) generated against whole- and membrane-enriched tachyzoite extracts of the apicomplexan parasite Besnoitia besnoiti. Confocal laser scanning immunofluorescence microscopy was used to localize respective epitopes in B. besnoiti tachyzoites along the lytic cycle. A pattern compatible with dense granule staining was observed with MABs 2.A.12, 2.F.3 and 2.G.4, which could be confirmed by immunogold electron microscopy for MABs 2.A.12 and 2.F.3. In particular, MABs 2.F.3 and 2.G.4 were secreted during early invasion, proliferation and egress phases. MABs 3.10.8 and 5.5.11 labelled the tachyzoite surface, whilst MABs 1.17.8, 8.9.2 and 2.G.A recognized the apical tip, which is reminiscent for microneme localization. Besides, the epitopes recognized by the latter two (MABs 8.9.2 and 2.G.A) exhibited a redistribution from the anterior part across the parasite surface towards the posterior end during invasion. Most MABs developed were genus-specific. Indeed, the MABs cross-reacted neither with T. gondii nor with N. caninum tachyzoites. In summary, we have generated MABs that will be useful to study the key processes in the lytic cycle of the parasite and with additional promising diagnostic value. However, the molecular identity of the antigens recognized remains to be elucidated.


Subject(s)
Antibodies, Monoclonal/biosynthesis , Antibodies, Monoclonal/immunology , Sarcocystidae/immunology , Animals , Biomarkers , Blotting, Western , Electrophoresis, Polyacrylamide Gel , Epitopes/biosynthesis , Epitopes/immunology , Hybridomas/immunology , Immunohistochemistry , Mice , Mice, Inbred BALB C , Microscopy, Confocal , Microscopy, Electron, Transmission , Sarcocystidae/ultrastructure
9.
Prensa méd. argent ; 104(10): 505-509, dic 2018. fig
Article in Spanish | LILACS, BINACIS | ID: biblio-1046995

ABSTRACT

El síndrome de Sweet es una dermatosis neutrofílica aguda y febril que puede ser desencadenada por diferentes noxas. El diagnóstico es clínico a partir de una dermatosis aguda, con fiebre, leucocitosis y lesiones cutáneas localizadas en cara, cuello y extremidades. La histopatología muestra un denso infiltrado inflamatorio de la dermis a predominio neutrofílico, sin signos de vasculitis. Se presenta un paciente con síndrome de Sweet asociado a infección por el virus de la inmunodeficiencia humana


Sweet's syndrome associated with human immunodeficiency virus infection Sweet's syndrome is a neutrophilic and acute febrile dermatosis that can be triggered by different noxas. Diagnosis should be suspected in a patient with fever, leukocytosis and cutaneous lesions located on the face, the neck and the extremities. Cutaneous biopsy confirms the diagnosis of Sweet syndrome, with typical features of a neutrophilic dermatosis in the absence of vasculitis. Here we present a case of Sweet syndrome associated with human immunodeficiency virus infection


Subject(s)
Humans , Male , Adult , HIV Infections/physiopathology , HIV , Sweet Syndrome/diagnosis
10.
J Environ Qual ; 47(4): 805-811, 2018 Jul.
Article in English | MEDLINE | ID: mdl-30025033

ABSTRACT

Chloramphenicol (CAP) is a broad-spectrum antibiotic widely used in animal farming and aquaculture industries. Despite its ban in many countries around the world, it is still used in several developing countries, with harmful effects on the surrounding aquatic environment. In this study, an electrooxidation process using a Ti/PbO anode was used to investigate the degradation of CAP in both synthetic solution and real aquaculture wastewater. A central composite design was used to determine the optimum conditions for CAP removal. Current intensity and treatment time had the most impact on the CAP removal. These two factors accounted for ∼90% of CAP removal. The optimum conditions found in this study were current intensity of 0.65 A, treatment time of 34 min, and CAP initial concentration of 0.5 mg L. Under these conditions, 98.7% of CAP removal was achieved with an energy consumption of 4.65 kW h m. The antibiotic was not present in the aquaculture wastewater, which received 0.5 mg L of CAP and was treated (by electrooxidation) under the optimum conditions. A complete removal of CAP was obtained after 34 min of treatment. According to these results, electrooxidation presents an option for the removal of antibiotics, secondary compounds, and other organic and inorganic compounds from solution.


Subject(s)
Anti-Bacterial Agents/chemistry , Aquaculture , Chloramphenicol/chemistry , Wastewater , Animals , Electrochemistry , Oxidation-Reduction , Titanium , Water Pollutants, Chemical , Water Purification
11.
J Wrist Surg ; 7(3): 253-257, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29922504

ABSTRACT

Background Axial carpal dislocations and fracture dislocations are 1.4 to 2.08% of all the fractures and dislocations of the wrist. These injuries are caused by high-energy blast or compression mechanisms. Only 11 cases of axial-radial-ulnar (ARU) fracture dislocations have been described in the literature. Case Description We describe a case with a traumatic transtrapezoid, peritrapezium, transhamate, peripisiform ARU in a patient with acute compartment syndrome, traumatic transverse flexor retinaculum (TFR) rupture, and radial nerve palsy. Literature Review The ARU fractures are injuries where the carpus is torn into three columns. ARU injuries have a high incidence of neurovascular, soft-tissue cover, and muscular-associated injuries. Depending on the injuries mentioned earlier, a bad functional prognosis can be expected. Nearly without exception, in ARU cases, a traumatic TFR rupture takes place. Garcia-Elias mentioned that the injury pattern is given by the speed, magnitude, and energy entry point. Clinical Relevance We describe a case of an ARU injury which has not been previously described. In an analysis of the 12 ARU cases previously reported, we observed that when two or more applied forces converge, an ARU injury pattern can occur. That suggests that in ARU injuries, one side of the injury occurs before the other. Due to the extensive carpal damage, in patients with ARU, a restricted range of motion is more likely to happen than residual instability. Thus, in all these cases, an early mobilization and intensive rehabilitation is highly necessary.

12.
Rev. chil. endocrinol. diabetes ; 11(2): 62-68, abr. 2018. graf
Article in Spanish | LILACS | ID: biblio-914895

ABSTRACT

Aim: Analyze mi-146a and miR-155 expression and its correlation with the apoptosis of lymphocytes T in T1D and control patient. Patients and Methodology: 17 T1D patients (5 children between 8-14 yr and 12 adults between 19-29 yr). Activated and not activated peripheral mononuclear cells were studied were studied. Cellular activation with anti-CD3 and primary culture with interleukyne-2 by 5 days. Apoptosis assays through flow cytometry. miRNA through Taqman probes. Statistical analysis through Kruskal-Wallis and post-hoc Dunn's test. Results: Composition of virgin and memory T CD4 cells showed significant differences for stimulus response in control group (p = 0,0004). Increased memory cells count in control group activated by 7 days than basal (p = 0,0047). For early apoptosis differences were observed in days 3 and 7 with and without activation (p = 0,001). AICD apoptosis showed increases in control group after re-stimulation through TCR (p= 0,03). miR-146a expression was lower in recent-onset T1D children vs recent-onset DM1 adults (p = 0,0167). Conclusion: This study shows a differential miR-146a expression in T1D children with respect to T1D adult patients, diminished AICD mechanism in T1D and altered CD4+CD45RA-CD45R0+ memory cells generation in T1D adult patients.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , T-Lymphocytes/immunology , Apoptosis/immunology , Diabetes Mellitus, Type 1/immunology , MicroRNAs/genetics , MicroRNAs/immunology , Diabetes Mellitus, Type 1/genetics , Immunologic Memory
14.
Rev. chil. enferm. respir ; 33(3): 222-224, set. 2017.
Article in Spanish | LILACS | ID: biblio-899685

ABSTRACT

Resumen El tabaco ejerce daño en los pacientes con diabetes mellitus acelerando las complicaciones crónicas, incremento en el riesgo de mortalidad global y cardiovascular. Dejar de fumar produce una reducción del riesgo. Además, el tabaquismo tanto activo como pasivo incrementa la incidencia de diabetes tipo 2. La exposición al tabaco durante el embarazo también puede predisponer al desarrollo de diabetes de las hijas y diabetes gestacional en las madres. Un estudio en diabetes mellitus 1 comparó una cohorte de EE. UU. con una europea, demostró que los fumadores tienen niveles de HbA1c significativamente mayores y un perfil lipídico con mayor nivel de triglicéridos y colesterol LDL. Por todas estas razones es urgente realizar consejería breve o ABC-D, según las Primeras Guías de Práctica Clínica de Tratamiento del Tabaquismo, Chile, 2017 a todo paciente diabético ya sea en atención ambulatoria como hospitalaria.


Tobacco exerts damage in patients with diabetes mellitus by accelerating chronic complications, increasing the risk of global and cardiovascular mortality. Quitting smoking produces risk reduction. In addition, both active and passive smoking increases the incidence of type 2 diabetes. Exposure to tobacco during pregnancy can also predispose to the development of diabetes of daughters and gestational diabetes in mothers. A study in diabetes mellitus 1 compared a US cohort with a European cohort, showed that smokers have significantly higher levels of HbAlc and a lipid profile with a higher level of triglycerides and LDL cholesterol. For all these reasons it is urgent to brief counsel or provide ABC-D, according to the First Clinical Practice Guidelines of Tobacco Treatment, Chile, 2017 for all diabetic patients, whether in outpatient or hospital care.


Subject(s)
Humans , Female , Pregnancy , Adult , Tobacco Use Disorder/epidemiology , Diabetes, Gestational , Diabetes Mellitus, Type 2/epidemiology , Tobacco Use Disorder/blood , Chile/epidemiology , Practice Guidelines as Topic , Counseling , Diabetes Mellitus, Type 2/blood
16.
Hematol Oncol ; 35(4): 894-899, 2017 Dec.
Article in English | MEDLINE | ID: mdl-26947932

ABSTRACT

Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.


Subject(s)
Core Binding Factor Alpha 2 Subunit/genetics , Leukemia, Myeloid, Acute/genetics , Myelodysplastic Syndromes/genetics , Child, Preschool , Chromosomes, Human, Pair 21/genetics , Female , Gene Amplification , Humans , Ring Chromosomes
17.
Neotrop Entomol ; 45(3): 333-5, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26960546

ABSTRACT

Drosophila buzzatii (Patterson & Wheeler), a typical cactophilic species of the repleta group, is registered for the first time emerging from Melon (Cucumis melo) in western Argentina. The analysis of inversion polymorphism and genetic diversity of mitochondrial cytochrome oxidase subunit I gene (mtCOI) provided additional evidence that corroborated the presence of a high proportion of D. buzzatii among the flies emerged from melon. This finding set the scenario for a broader range of possible hosts and host-related distribution and dispersion for this widespread species.


Subject(s)
Drosophila/genetics , Animals , Argentina , Genetic Variation
18.
Hematology ; 21(3): 193-7, 2016 Apr.
Article in English | MEDLINE | ID: mdl-25978498

ABSTRACT

IMPORTANCE: Functional methionine synthase reductase deficiency, also known as cobalamin E disorder, is a rare autosomal recessive inherited disease that results in an impaired remethylation of homocysteine to methionine. It presents with macrocytic anemia, hyperhomocysteinemia, and hypomethioninemia, and may also be accompanied with neurological impairment. CLINICAL PRESENTATION: We describe two new cases of unrelated girls with megaloblastic anemia misclassified at first as congenital dyserythropoietic anemia with development of neurologic dysfunction in one of them. INTERVENTION: The posterior finding of biochemical features (hyperhomocysteinemia and hypomethioninemia) focused the diagnosis on the inborn errors of intracellular vitamin B12. Subsequent molecular analysis of the methionine synthase reductase (MTRR) gene revealed compound heterozygosity for a transition c.1361C > T (p.Ser454Leu) and another, not yet described in literature, c.1677-1G > A (p.Glu560fs) in one patient, and a single homozygosis mutation, c.1361C > T (p.Ser545Leu) in the other one. These mutations confirmed the diagnosis of cobalamin E deficiency. CONCLUSION: Treatment with hydroxocobalamin in combination with betaine appears to be useful for hematological improvement and prevention of brain disabilities in CblE-affected patients. Our study widens the clinical, molecular, metabolic, and cytological knowledge of deficiency MTRR enzyme.


Subject(s)
Amino Acid Substitution , Anemia, Macrocytic , Betaine/administration & dosage , Ferredoxin-NADP Reductase , Hydroxocobalamin/administration & dosage , Metabolism, Inborn Errors , Adult , Anemia, Macrocytic/drug therapy , Anemia, Macrocytic/enzymology , Anemia, Macrocytic/genetics , Child , Female , Ferredoxin-NADP Reductase/deficiency , Ferredoxin-NADP Reductase/genetics , Humans , Hyperhomocysteinemia/drug therapy , Hyperhomocysteinemia/enzymology , Hyperhomocysteinemia/genetics , Metabolism, Inborn Errors/drug therapy , Metabolism, Inborn Errors/enzymology , Metabolism, Inborn Errors/genetics , Mutation, Missense
19.
J Evol Biol ; 27(12): 2781-97, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25366093

ABSTRACT

Host shifts cause drastic consequences on fitness in cactophilic species of Drosophila. It has been argued that changes in the nutritional values accompanying host shifts may elicit these fitness responses, but they may also reflect the presence of potentially toxic secondary compounds that affect resource quality. Recent studies reported that alkaloids extracted from the columnar cactus Trichocereus terscheckii are toxic for the developing larvae of Drosophila buzzatii. In this study, we tested the effect of artificial diets including increasing doses of host alkaloids on developmental stability and wing morphology in D. buzzatii. We found that alkaloids disrupt normal wing venation patterning and affect viability, wing size and fluctuating asymmetry, suggesting the involvement of stress-response mechanisms. Theoretical implications are discussed in the context of developmental stability, stress, fitness and their relationship with robustness, canalization and phenotypic plasticity.


Subject(s)
Alkaloids/toxicity , Cactaceae/chemistry , Drosophila/growth & development , Models, Biological , Wings, Animal/growth & development , Analysis of Variance , Animals , Dose-Response Relationship, Drug , Drosophila/drug effects , Wings, Animal/drug effects
20.
Acta ortop. mex ; 28(3): 189-192, may.-jun. 2014. ilus
Article in Spanish | LILACS | ID: lil-725136

ABSTRACT

Reportamos tres casos de fractura de luxación axial del carpo tratados en nuestro servicio. Los tres, hombres entre la tercera y cuarta décadas de la vida, que sufrieron accidentes laborales por aplastamiento. En todos los casos se realizó reducción abierta y estabilización con clavillos, posteriormente fueron enviados a medicina física y rehabilitación. Se valoró la función de la muñeca a los diez meses con la escala de la Clínica Mayo para la muñeca (Mayo Wrist Score) y se tomaron estudios radiográficos para evaluar sus resultados postoperatorios. En este escrito se exponen tres ejemplos de pacientes que sufrieron estas lesiones con desenlaces "bueno", "satisfactorio" y "pobre".


We report three cases of axial-fracture dislocation of the carpal bone treated in our department. The three men were between thirty and forty years old who had a work related crushing fracture. We performed an open reduction and stabilization with pins in all cases; patients were then referred to physical medicine and rehabilitation. We assessed the wrist function at ten months using the Mayo Wrist Score and with X-rays to evaluate postoperative results. In this summary we present three examples of patients who suffered these injuries with "good", "satisfactory" and "poor" outcomes.


Subject(s)
Adult , Humans , Male , Carpal Bones/injuries , Joint Dislocations , Fractures, Bone , Wrist Injuries , Carpal Bones , Carpal Bones/surgery , Joint Dislocations , Joint Dislocations/surgery , Fractures, Bone , Fractures, Bone/surgery , Wrist Injuries , Wrist Injuries/surgery
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