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1.
Rev. parag. reumatol ; 9(2)dic. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1536679

ABSTRACT

Introducción: La Enfermedad por el virus del Chikungunya (CHIKV) es una virosis que se caracteriza por fiebre acompañada de dolores articulares. La epidemia de esta enfermedad en los últimos dos años causó más de cien mil casos confirmados y sospechosos, incluido personas con Lupus Eritematoso Sistémico (LES). Objetivo: Los objetivos del siguiente trabajo consistieron en determinar la evolución de la Enfermedad por el CHIKV en pacientes con LES, caracterizar a la población incluida en el estudio, determinar la frecuencia de la Enfermedad por el CHIKV en pacientes con LES, describir las manifestaciones clínicas de la Enfermedad por el CHIKV en pacientes con LES y registrar la impresión de los pacientes en relación con la actividad de la enfermedad y las manifestaciones clínicas que aparecieron posterior a la Enfermedad por el CHIKV. Metodología: El estudio realizado fue de tipo descriptivo de corte transversal. Se incluyeron 101 pacientes con Lupus Eritematoso Sistémico, a quienes se les encuestó mediante un formulario virtual. Los investigadores establecieron contacto con los pacientes a través de llamadas telefónicas o mensajería, y si los pacientes aceptaban participar en el estudio, se les enviaba el formulario o, en algunos casos, se completaba durante la llamada telefónica, si el paciente lo solicitaba. Resultados: El valor de la media de edad es de 38,2 ± 11,8 años. El 85,1% (86/101) de los pacientes corresponden al sexo femenino, mientras que el 14,9% (15/101) corresponde al sexo masculino. El 37,6% (38/101) presentó la enfermedad por el CHIKV, la cual se caracterizó en la fase aguda por la presencia de artralgias en un 84,2% (32/38), fiebre en un 71,1% (27/38), debilidad en un 57,9% (22/38) y cefalea en un 55,3% (21/38). En la fase subaguda, las artralgias se manifestaron mayoritariamente en un 73,7% (28/38) de los pacientes. La fase crónica estuvo presente en el 71,1% (27/38) con la persistencia de artralgias en un 81,48% (22/27) de los pacientes acompañada de otros síntomas como la artritis en un 40,74% (11/27). A causa de la enfermedad por el CHIKV, el 21,1% (8/38) recibió la indicación en la fase subaguda o crónica de realizar cambios en su medicación para el LES. El 62,5% (5/8) recibió la indicación de aumentar la dosis del corticoesteroide, mientras que el 50% (4/8) de aumentar la dosis del inmunosupresor. Según la impresión de los pacientes, en cuanto a la actividad de la enfermedad de base, posterior a la enfermedad por el CHIKV, presentaron una exacerbación del LES en un 10,5% (4/38) de los pacientes, de los cuales un 50% (2/4) refirieron exacerbación de síntomas ya existentes antes de la infección y la aparición de nuevos síntomas en un 50% (2/4). El 5,2% (2/38) tuvo requerimiento de hospitalización debido a la enfermedad por el CHIKV en la fase aguda. Conclusión: Las artralgias fueron frecuentes en las fases aguda, subaguda y crónica. En términos de tratamiento, algunos pacientes ajustaron sus medicaciones para el LES, aumentando la dosis de inmunosupresores o corticoides. En cuanto a la evolución, la mayoría de los pacientes no experimentaron una exacerbación de la enfermedad de base debido a la enfermedad por el CHIKV, al igual que solo un par de pacientes requirió hospitalización.


Introduction: Chikungunya virus (CHIKV) disease is a viral disease characterised by fever accompanied by joint pain. The epidemic of this disease in the last two years has caused more than 100,000 confirmed and suspected cases, including people with systemic lupus erythematosus (SLE). Objective: The objectives of the following work were to determine the evolution of CHIKV disease in patients with SLE, to characterise the study population, to determine the frequency of CHIKV disease in patients with SLE, to describe the clinical manifestations of CIHKV disease in patients with SLES, and to record the patients' impression of disease activity in relation to CHIKV disease in patients with SLE. Methodology: The study was a descriptive cross-sectional study. It included 101 patients with Systemic Lupus Erythematosus, who were surveyed using a virtual form. The investigators contacted patients by phone calls or messages, and if patients agreed to enter the study, the form was sent to them or, in some cases, completed during the telephone call, if requested by the patient. Results: The mean age value is 38.2 ± 11.8 years. The female sex accounted for 85.1% (86/101) of the patients, while 14.9% (15/101) were male. Chikungunya virus disease occurred in 37.6% (38/101) and was characterised in the acute phase by arthralgias in 84.2% (32/38), fever in 71.1% (27/38), weakness in 57.9% (22/38) and headache in 55.3% (21/38). In the subacute phase, arthralgias manifested in 73.7% (28/38) of patients. The chronic phase was present in 71.1% (27/38) with persistence of arthralgias in 81.48% (22/27) of patients accompanied by other symptoms such as arthritis in 40.74% (11/27). Due to CHIKV disease, 21.1% (8/38) received an indication in the subacute or chronic phase to make changes in their medication for SLE. 62.5% (5/8) received an indication to increase the dose of corticosteroid, while 50% (4/8) received an indication to increase the dose of immunosuppressant. According to the patients' impression of the baseline disease activity following CHIKV disease, patients reported an exacerbation of SLE in 10.5% (4/38) of patients, of whom 50% (2/4) reported exacerbation of symptoms already existing before infection, the appearance of new symptoms in 50% (2/4). Only 5.2% (2/38) referred to hospitalization due to CHKV disease in the acute phase. Conclusion: Arthralgias were frequent in the acute, subacute, and chronic phases. In terms of treatment, some patients adjusted their SLE medications, increasing the dose of immunosuppressants or corticosteroids. In terms of evolution, most patients did not experience an exacerbation of their baseline disease due to CHIKV disease, and only a couple of patients required hospitalization.

2.
Arch. méd. Camaguey ; 25(6): e8663, 2021. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1355659

ABSTRACT

RESUMEN Fundamento: el registro de la dimensión vertical oclusiva se complejiza en los pacientes con bruxismo en los que se impone restablecer la misma. Objetivo: determinar la utilidad clínica del registro cefalométrico de la dimensión vertical oclusiva en pacientes con bruxismo y trastornos temporomandibulares tributarios de tratamiento rehabilitador integral. Métodos: se desarrolló un estudio cuasi experimental antes y después con grupo control en la consulta del tercer nivel de atención estomatológica de Oclusión Dentaria y Articulación Temporomandibular en la Clínica Estomatológica Docente Ismael Clark y Mascaró, de septiembre de 2015 a mayo de 2018 en la provincia Camagüey. El universo de estudio lo conformaron los 73 pacientes remitidos con diagnóstico de bruxismo, presencia de facetas de desgastes, pérdida de la dimensión vertical oclusiva, signos y síntomas de trastornos temporomandibulares, desdentados parciales, mayores de 19 años, sin distinción en cuanto al sexo y desprovistos de procesos periodontales activos. La muestra no probabilística finita y heterogénea quedó representada por los primeros 50 pacientes asistidos que integraron en la misma proporción el grupo estudio y el grupo control. La investigación se realizó en tres momentos: organización, intervención y evaluación. Resultados: predominaron los pacientes con desgaste dentario tipo E 2, resaltó la dimensión vertical disminuida y la conservación de la dimensión vertical oclusiva a los seis meses de concluir el tratamiento rehabilitador integral. Conclusiones: útil se consideró el registro cefalométrico de la dimensión vertical oclusiva para pacientes con bruxismo y trastornos temporomandibulares.


ABSTRACT Background: the register of the occlusive vertical dimension is a complex issue in patients with bruxism who need to restore it. Objective: to determine the clinical use of the cephalometric register of the occlussive vertical dimension in patients with bruxism and temporomandibular disorders tributary of integral rehabilitator treatment. Methods: a quasi-experimental study was performed before and after with a control group in the third level consultation of dentistry assistance of Dental Occlusion and Temporomandibular Joint at Ismael Clark y Mascaró teaching dental clinic from September 2015 to May 2018 in Camagüey province. The universe of study consisted of 73 patients referred with a diagnosis of bruxism, presence of wear facets, loss of the occlusive vertical dimension, signs and symptoms of temporomandibular disorders, partial edentulous, older than 19 years old, regardless of sex and devoid of active periodontal processes. The finite and heterogenous non-probabilistic sample was represented by the first 50 assisted patients who made up the study group and the control one in the same proportion. The research was carried out in three moments: organization, intervention and assessment. Results: patients with wear facets type E 2 predominated, the diminished vertical dimension and the conservation of the occlusive vertical dimension and six months later of the integral rehabilitator treatment stand out. Conclusions: the cephalometric register of the occlussive vertical dimension for patients with bruxism and temporomandibular disorders was considered useful.

3.
Cells ; 10(10)2021 09 27.
Article in English | MEDLINE | ID: mdl-34685541

ABSTRACT

During meiosis, the budding yeast polo-like kinase Cdc5 is a crucial driver of the prophase I to meiosis I (G2/M) transition. The meiotic recombination checkpoint restrains cell cycle progression in response to defective recombination to ensure proper distribution of intact chromosomes to the gametes. This checkpoint detects unrepaired DSBs and initiates a signaling cascade that ultimately inhibits Ndt80, a transcription factor required for CDC5 gene expression. Previous work revealed that overexpression of CDC5 partially alleviates the checkpoint-imposed meiotic delay in the synaptonemal complex-defective zip1Δ mutant. Here, we show that overproduction of a Cdc5 version (Cdc5-ΔN70), lacking the N-terminal region required for targeted degradation of the protein by the APC/C complex, fails to relieve the zip1Δ-induced meiotic delay, despite being more stable and reaching increased protein levels. However, precise mutation of the consensus motifs for APC/C recognition (D-boxes and KEN) has no effect on Cdc5 stability or function during meiosis. Compared to the zip1Δ single mutant, the zip1Δ cdc5-ΔN70 double mutant exhibits an exacerbated meiotic block and reduced levels of Ndt80 consistent with persistent checkpoint activity. Finally, using a CDC5-inducible system, we demonstrate that the N-terminal region of Cdc5 is essential for its checkpoint erasing function. Thus, our results unveil an additional layer of regulation of polo-like kinase function in meiotic cell cycle control.


Subject(s)
Cell Cycle Checkpoints/genetics , Cell Cycle Proteins/metabolism , Protein Serine-Threonine Kinases/metabolism , Proto-Oncogene Proteins/metabolism , Saccharomyces cerevisiae Proteins/metabolism , Saccharomyces cerevisiae/genetics , Down-Regulation , Meiosis , Polo-Like Kinase 1
4.
EJIFCC ; 32(2): 286-291, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34421497

ABSTRACT

Malignant hyperthermia is a pharmacogenetic disorder. It manifests as a hypercatabolic skeletal muscle syndrome linked to inhaled volatile anesthetics or depolarizing muscle relaxants. Its clinical signs and symptoms are tachycardia, hyperthermia, hypercapnia, acidosis, muscle rigidity, rhabdomyolysis, hyperkalemia, arrhythmia and renal failure. Mortality without specific treatment is 80% and decreases to 5% with the use of dantrolene sodium. This article presents the case of a 39-year-old patient admitted to the Intensive Care Unit for malignant hyperthermia after surgery for septoplasty plus turbinoplasty.

5.
Adv Lab Med ; 2(4): 575-582, 2021 Nov.
Article in English, Spanish | MEDLINE | ID: mdl-37360893

ABSTRACT

Objectives: Treatment with low-molecular-weight heparins is very common in clinical practice. Exceptionally, some patients develop hepatitis within a few days of starting treatment, and rapid discontinuation of the drug is decisive to avoid chronification. Case presentation: These episodes usually present themselves only with elevated transaminases. We describe the case of a patient who presented a cholestatic pattern, which is very uncommon with this type of drug. Conclusions: Hepatitis secondary to heparin therapy is an underdiagnosed entity. The laboratory plays a fundamental role in its diagnosis, given that it initially presents itself without a clear clinical profile.

6.
Integr Zool ; 15(4): 262-275, 2020 Jul.
Article in English | MEDLINE | ID: mdl-31912636

ABSTRACT

Testosterone secretion may regulate the reproductive effort and the development of sexual traits, but it may also involve costs at the immunological and metabolic levels. However, the evidence for this trade-off in wild populations is scarce. Cortisol also plays an important role in mediating the reproductive and immune functions. In this study, we analyzed whether the endoparasite burden relates to hormonal levels (fecal testosterone and cortisol metabolites) and/or morphological sexual traits (size of the dark ventral patch, a trait that indicates reproductive effort in males) in male Iberian red deer. For this purpose, we sampled male red deer harvested during hunting actions in 2 types of populations in south western Spain that differed in structure, affecting the level of male-male competition for mates. We used coprological analyses to estimate the parasite burden mainly of gastrointestinal and bronchopulmonary nematodes and of protozoa, and assessed testosterone and cortisol metabolite levels from fecal pellets. We found a positive relationship of host parasitation with both testosterone levels and the size of the dark ventral patch, but these relationships depended on the intensity of male-male competition in the population, being only found under the high-competition scenario. These results are discussed under the hypothesis of the testosterone immunocompetence handicap, suggesting a cost at the immunological level, and, therefore, higher susceptibility to parasite infection in males that make a greater reproductive effort. However, this effect seems to be modulated by the social environment (male-male competition) that might lead to different optima in testosterone production and sexual trait development.


Subject(s)
Deer/immunology , Helminthiasis, Animal/epidemiology , Hydrocortisone/metabolism , Pigmentation , Protozoan Infections, Animal/epidemiology , Sexual Behavior, Animal , Testosterone/metabolism , Animals , Deer/parasitology , Deer/physiology , Feces/chemistry , Helminthiasis, Animal/parasitology , Male , Protozoan Infections, Animal/parasitology , Spain/epidemiology
7.
Arch. méd. Camaguey ; 20(6)oct-dic 2016.
Article in Spanish | CUMED | ID: cum-75052

ABSTRACT

Fundamento: la guía anterior se convierte en algo difícil para los que incursionan en procederes rehabilitadores, pero no existe un instrumento para examinar la misma con fines docentes y asistenciales.Objetivo: desarrollar un instrumento clasificador para el examen clínico de la guía anterior de la oclusión.Métodos: se realizó un estudio descriptivo, en la clínica Ismael Clark Mascaró de la ciudad de Camagüey, desde septiembre de 2015 hasta febrero de 2016. El universo de estudio lo conformó la totalidad de 196 pacientes desdentados parciales, alta de servicios básicos y necesitados de rehabilitación protésica. La muestra no probabilística quedó constituida por 150 pacientes que reunieron los requisitos de inclusión. La investigación se realizó en tres momentos: ordenamiento, obtención de información y confrontación.Resultados: el 58 porciento de los pacientes no presentaron integridad morfológica de la guía anterior. Las interferencias predominaron en el 70 porciento de los pacientes de forma severa. Los examinados, 62 porciento con una guía anterior no funcional tenían curva de compensación pronunciada. Sobresale la dimensión vertical oclusiva dentro los parámetros establecidos con la guía anterior no adecuada en el 60 porciento de los pacientes.Conclusiones: sobresalió la falta de integridad morfológica de la guía anterior. Las interferencias dentarias severas fueron las más numerosas. La curva de Wilson pronunciada y la dimensión vertical oclusiva dentro de los parámetros establecidos, predominó en la mayoría de los pacientes con la guía anterior no funcional(AU)


Background: the previous guide becomes a difficult tool for those who make incursions into procedures of rehabilitation, but there is no instrument to examine it with teaching and assistance purposes.Objective: to develop a classifying instrument for the clinical exam of occlusion previous guide.Methods: a descriptive study was conducted at Ismael Clark Mascaro dental clinic of Camagüey from September 2015 to February 2016. The universe of study was composed of the 196 partial toothless patients who were discharged from the primary level of attention, and who needed of denture rehabilitation. The non-probabilistic sample was constituted by all the people who had the inclusion requirements, 150 patients. The investigation was carried out in three stages: classification, getting information and confrontation.Results: generally, 58 percent of the patients did not present morphological integrity of the previous guide. The interferences prevailed in 70 percent of the patients in a severe way. On the other hand, 62 percent of the examined patients with a dysfunctional previous guide had a curve of marked compensation. The vertical occlusive dimension stands out within the established parameters with the inadequate previous guide in 60 percent of the patients.Conclusions: the lack of morphological integrity of the previous guide was highlighted. The severe dental interferences were the most numerous. Wilson marked curve and the vertical occlusive dimension within the established parameters prevailed in most of the patients with the dysfunctional previous guide(AU)


Subject(s)
Humans , Dental Occlusion , Tooth Wear/classification , Tooth Wear/diagnosis , Tooth Wear/rehabilitation , Malocclusion/classification , Malocclusion/diagnosis , Malocclusion/rehabilitation , Epidemiology, Descriptive
8.
Arch. méd. Camaguey ; 20(6): 597-608, oct.-dic. 2016.
Article in Spanish | LILACS | ID: biblio-838462

ABSTRACT

RESUMEN Fundamento: la guía anterior se convierte en algo difícil para los que incursionan en procederes rehabilitadores, pero no existe un instrumento para examinar la misma con fines docentes y asistenciales. Objetivo: desarrollar un instrumento clasificador para el examen clínico de la guía anterior de la oclusión. Métodos: se realizó un estudio descriptivo, en la clínica Ismael Clark Mascaró de la ciudad de Camagüey, desde septiembre de 2015 hasta febrero de 2016. El universo de estudio lo conformó la totalidad de 196 pacientes desdentados parciales, alta de servicios básicos y necesitados de rehabilitación protésica. La muestra no probabilística quedó constituida por 150 pacientes que reunieron los requisitos de inclusión. La investigación se realizó en tres momentos: ordenamiento, obtención de información y confrontación. Resultados: el 58 % de los pacientes no presentaron integridad morfológica de la guía anterior. Las interferencias predominaron en el 70 % de los pacientes de forma severa. Los examinados, 62 % con una guía anterior no funcional tenían curva de compensación pronunciada. Sobresale la dimensión vertical oclusiva dentro los parámetros establecidos con la guía anterior no adecuada en el 60 % de los pacientes. Conclusiones: sobresalió la falta de integridad morfológica de la guía anterior. Las interferencias dentarias severas fueron las más numerosas. La curva de Wilson pronunciada y la dimensión vertical oclusiva dentro de los parámetros establecidos, predominó en la mayoría de los pacientes con la guía anterior no funcional.


Background: the previous guide becomes a difficult tool for those who make incursions into procedures of rehabilitation, but there is no instrument to examine it with teaching and assistance purposes. Objective: to develop a classifying instrument for the clinical exam of occlusion previous guide. Methods: a descriptive study was conducted at Ismael Clark Mascaro dental clinic of Camagüey from September 2015 to February 2016. The universe of study was composed of the 196 partial toothless patients who were discharged from the primary level of attention, and who needed of denture rehabilitation. The non-probabilistic sample was constituted by all the people who had the inclusion requirements, 150 patients. The investigation was carried out in three stages: classification, getting information and confrontation. Results: generally, 58% of the patients did not present morphological integrity of the previous guide. The interferences prevailed in 70 % of the patients in a severe way. On the other hand, 62 % of the examined patients with a dysfunctional previous guide had a curve of marked compensation. The vertical occlusive dimension stands out within the established parameters with the inadequate previous guide in 60 % of the patients. Conclusions: the lack of morphological integrity of the previous guide was highlighted. The severe dental interferences were the most numerous. Wilson marked curve and the vertical occlusive dimension within the established parameters prevailed in most of the patients with the dysfunctional previous guide.

9.
Rev. cuba. estomatol ; 52(3)jul.-sept. 2015. ilus
Article in Spanish | CUMED | ID: cum-61997

ABSTRACT

Los implantes osteointegrados permite recuperar de forma fija y cómoda todas las funciones del diente perdido. El objetivo de esta presentación es demostrar los beneficios de realizar tratamientos ortodóncico previos a la colocación de implantes dentales en pacientes edentes. Un paciente de 21 años acudió a consulta de implantología en la Clínica Estomatológica Provincial Docente Dr. Ismael Clark y Mascaró de Camagüey, por ausencia de incisivos central y lateral superior derecho (11 y 12). Se valoró por el equipo multidisciplinario, el cual planteó cerrar el espacio de la brecha edente con aparatología ortodóncica fija y después realizar cirugía de avanzada y la colocación de un implante Leader Nano. La rehabilitación protésica se realizó a los ocho meses. Se demostró la eficacia de la realización de tratamiento ortodóncico previo a la colocación de implantes dentales así como el restablecimiento del estado estético y psicológico del paciente(AU)


Osseointegrated implants make it possible to recover all the functions of the lost tooth in a comfortable and permanent manner. The purpose of this presentation is to show the benefits of applying orthodontic treatment before the placement of dental implants in edentulous patients. A 21-year-old male patient attended implantology consultation at Dr. Ismael Clark y Mascaró Provincial Teaching Dental Clinic in Camagüey, due to the absence of the right upper central and lateral incisors (11 and 12). Upon assessment, the multidisciplinary team decided to close the toothless gap with a fixed orthodontic appliance and then perform advanced surgery and the placement of a Leader Nano implant. Prosthetic rehabilitation was performed eight months later. It was shown that performing orthodontic treatment before the placement of dental implants has a positive effect on the recovery of the esthetic and psychological status of patients(AU)


Subject(s)
Humans , Male , Young Adult , Dental Implants , Orthodontic Space Closure/methods
10.
Rev. cuba. estomatol ; 52(3): 383-389, jul.-set. 2015. ilus
Article in Spanish | LILACS | ID: lil-765771

ABSTRACT

Los implantes osteointegrados permite recuperar de forma fija y cómoda todas las funciones del diente perdido. El objetivo de esta presentación es demostrar los beneficios de realizar tratamientos ortodóncico previos a la colocación de implantes dentales en pacientes edentes. Un paciente de 21 años acudió a consulta de implantología en la Clínica Estomatológica Provincial Docente Dr. Ismael Clark y Mascaró; de Camagüey, por ausencia de incisivos central y lateral superior derecho (11 y 12). Se valoró por el equipo multidisciplinario, el cual planteó cerrar el espacio de la brecha edente con aparatología ortodóncica fija y después realizar cirugía de avanzada y la colocación de un implante Leader Nano. La rehabilitación protésica se realizó a los ocho meses. Se demostró la eficacia de la realización de tratamiento ortodóncico previo a la colocación de implantes dentales así como el restablecimiento del estado estético y psicológico del paciente(AU)


Osseointegrated implants make it possible to recover all the functions of the lost tooth in a comfortable and permanent manner. The purpose of this presentation is to show the benefits of applying orthodontic treatment before the placement of dental implants in edentulous patients. A 21-year-old male patient attended implantology consultation at Dr. Ismael Clark y Mascaró Provincial Teaching Dental Clinic in Camagüey, due to the absence of the right upper central and lateral incisors (11 and 12). Upon assessment, the multidisciplinary team decided to close the toothless gap with a fixed orthodontic appliance and then perform advanced surgery and the placement of a Leader Nano implant. Prosthetic rehabilitation was performed eight months later. It was shown that performing orthodontic treatment before the placement of dental implants has a positive effect on the recovery of the esthetic and psychological status of patients(AU)


Subject(s)
Humans , Male , Adult , Dental Implants/adverse effects , Tooth Injuries/therapy , Orthodontic Space Closure/methods , Esthetics, Dental
11.
PLoS Genet ; 9(1): e1003262, 2013.
Article in English | MEDLINE | ID: mdl-23382701

ABSTRACT

During meiosis, accurate chromosome segregation relies on the proper interaction between homologous chromosomes, including synapsis and recombination. The meiotic recombination checkpoint is a quality control mechanism that monitors those crucial events. In response to defects in synapsis and/or recombination, this checkpoint blocks or delays progression of meiosis, preventing the formation of aberrant gametes. Meiotic recombination occurs in the context of chromatin and histone modifications, which play crucial roles in the maintenance of genomic integrity. Here, we unveil the role of Dot1-dependent histone H3 methylation at lysine 79 (H3K79me) in this meiotic surveillance mechanism. We demonstrate that the meiotic checkpoint function of Dot1 relies on H3K79me because, like the dot1 deletion, H3-K79A or H3-K79R mutations suppress the checkpoint-imposed meiotic delay of a synapsis-defective zip1 mutant. Moreover, by genetically manipulating Dot1 catalytic activity, we find that the status of H3K79me modulates the meiotic checkpoint response. We also define the phosphorylation events involving activation of the meiotic checkpoint effector Mek1 kinase. Dot1 is required for Mek1 autophosphorylation, but not for its Mec1/Tel1-dependent phosphorylation. Dot1-dependent H3K79me also promotes Hop1 activation and its proper distribution along zip1 meiotic chromosomes, at least in part, by regulating Pch2 localization. Furthermore, HOP1 overexpression bypasses the Dot1 requirement for checkpoint activation. We propose that chromatin remodeling resulting from unrepaired meiotic DSBs and/or faulty interhomolog interactions allows Dot1-mediated H3K79-me to exclude Pch2 from the chromosomes, thus driving localization of Hop1 along chromosome axes and enabling Mek1 full activation to trigger downstream responses, such as meiotic arrest.


Subject(s)
DNA-Binding Proteins , Histone-Lysine N-Methyltransferase , Histones , MAP Kinase Kinase 1 , Meiosis/genetics , Nuclear Proteins , Saccharomyces cerevisiae Proteins , Chromatin Assembly and Disassembly/genetics , DNA Breaks, Double-Stranded , DNA-Binding Proteins/genetics , DNA-Binding Proteins/metabolism , Gene Expression Regulation , Histone-Lysine N-Methyltransferase/genetics , Histone-Lysine N-Methyltransferase/metabolism , Histones/genetics , Histones/metabolism , Lysine/genetics , MAP Kinase Kinase 1/genetics , MAP Kinase Kinase 1/metabolism , Methylation , Mutation , Nuclear Proteins/genetics , Nuclear Proteins/metabolism , Recombination, Genetic/genetics , Saccharomyces cerevisiae/cytology , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae Proteins/genetics , Saccharomyces cerevisiae Proteins/metabolism
12.
Diagn. prenat. (Internet) ; 23(4): 154-159, oct.-dic. 2012. tab, ilus
Article in Spanish | IBECS | ID: ibc-106854

ABSTRACT

La ablación láser de la lesión puede enlentecer el crecimiento tumoral y la re- acumulación de líquido pericárdico. Los teratomas cardiacos son tumores benignos aunque la mitad de los fetos afectos por ellos mueren intraútero debido a taponamiento cardiaco e hidropesía fetal. En algunos casos se ha documentado una mejoría del pronóstico fetal tras el drenaje intrauterino de la efusión pericárdica. Exponemos un caso de teratoma cardiaco diagnosticado en la semana 30 de embarazo con signos de taponamiento cardiaco que fue tratado intraútero de forma percutánea mediante ablación láser de la lesión bajo control ecográfico y pericardiocentesis. El feto nació mediante cesárea electiva en la semana 35 realizándose cirugía resectiva tumoral postnatalmente(AU)


Cardiac teratomas are benign tumors, but in about half of affected fetuses there is intrauterine death due to cardiac tamponade and hydrops. In some cases there have been apparent improvements in prognosis after intrauterine drainage of the pericardial effusion. We report a case of cardiac teratoma presenting at 30 weeks gestation with cardiac tamponade, treated by ultrasound-guided laser ablation of the teratoma and pericardiocentesis. The infant was born at 35 weeks gestation and survived after post-natal tumor resection. Laser ablation of the tumor might slow down the growth and the re-accumulation of pericardial effusion(AU)


Subject(s)
Humans , Male , Female , Pregnancy , /methods , /trends , Teratoma/epidemiology , Teratoma/prevention & control , Hydrops Fetalis , Teratoma/physiopathology , Teratoma , Prenatal Diagnosis/methods , Prenatal Diagnosis/trends
13.
Hum Mol Genet ; 21(20): 4549-57, 2012 Oct 15.
Article in English | MEDLINE | ID: mdl-22814393

ABSTRACT

Recent genome-wide association studies (GWASs) have identified >20 new loci associated with the susceptibility to psoriasis vulgaris (PsV) risk. We investigated the association of PsV and its main clinical subphenotypes with 32 loci having previous genome-wide evidence of association with PsV (P < 5e-8) or strong GWAS evidence (P < 5e-5 in discovery and P < 0.05 in replication sample) in a large cohort of PsV patients (n = 2005) and controls (n = 1497). We provide the first independent replication for COG6 (P = 0.00079) and SERPINB8 (P = 0.048) loci with PsV. In those patients having developed psoriatic arthritis (n = 955), we found, for the first time, a strong association with IFIH1 (P = 0.013). Analyses of clinically relevant PsV subtypes yielded a significant association of severity of cutaneous disease with variation at LCE3D locus (P = 0.0005) in PsV and nail involvement with IL1RN in purely cutaneous psoriasis (PsC, P = 0.007). In an exploratory analysis of epistasis, we replicated the previously described HLA-C-ERAP1 interaction with PsC. Our findings show that common genetic variants associated with a complex phenotype like PsV influence different subphenotypes of high clinical relevance.


Subject(s)
Genetic Variation , Phenotype , Psoriasis/genetics , Adaptor Proteins, Vesicular Transport/genetics , Adaptor Proteins, Vesicular Transport/metabolism , Alleles , Aminopeptidases/genetics , Aminopeptidases/metabolism , Case-Control Studies , Genetic Predisposition to Disease , Genome-Wide Association Study , Genotype , HLA-C Antigens/genetics , HLA-C Antigens/immunology , Humans , Interleukin 1 Receptor Antagonist Protein/genetics , Male , Minor Histocompatibility Antigens , Skin/immunology , Skin/metabolism
14.
Metabolism ; 61(5): 699-705, 2012 May.
Article in English | MEDLINE | ID: mdl-22146093

ABSTRACT

The objective was to examine maternal serum levels of resistin at 11 to 13 weeks' gestation in normal and pathological pregnancies. Serum resistin, pregnancy-associated plasma protein A (PAPP-A), and uterine artery pulsatility index (PI) at 11 to 13 weeks were measured in 480 singleton pregnancies, including 240 with normal outcome, 60 that subsequently developed preeclampsia (PE), 60 that developed gestational diabetes mellitus (GDM), 60 that delivered large for gestational age (LGA) neonates, and 60 that delivered small for gestational age (SGA) neonates. Each value in both the normal and pathological outcome groups was expressed as a multiple of the expected normal median (MoM), and the median MoM values in the outcome groups were compared. In the PE group, compared with the controls, there were an increase in median resistin (1.22 MoM, P = .003) and uterine artery PI (1.25 MoM, P < .0001) and a decrease in serum PAPP-A (0.72, P < .0001). There was no significant association between serum resistin with either uterine artery PI (P = .415) or serum PAPP-A (P = .290). In the SGA, LGA, and GDM groups, serum resistin MoM was not significantly different from that of the controls (P = .415, P = .702, and P = .549, respectively). In pregnancies that develop PE, maternal serum resistin concentration at 11 to 13 weeks is increased in a manner not related to altered placental perfusion or function. In pregnancies complicated by the development of GDM or delivery of SGA or LGA neonates, serum resistin is not significantly altered.


Subject(s)
Pregnancy Complications/blood , Resistin/blood , Adult , Birth Weight/physiology , Diabetes, Gestational/blood , Enzyme-Linked Immunosorbent Assay , Female , Gestational Age , Humans , Infant, Newborn , Infant, Small for Gestational Age , Placentation/physiology , Pre-Eclampsia/blood , Pregnancy , Pregnancy-Associated Plasma Protein-A/metabolism , Reference Values
15.
Mol Biol Cell ; 22(18): 3478-90, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21795394

ABSTRACT

Defects in chromosome synapsis and/or meiotic recombination activate a surveillance mechanism that blocks meiotic cell cycle progression to prevent anomalous chromosome segregation and formation of aberrant gametes. In the budding yeast zip1 mutant, which lacks a synaptonemal complex component, the meiotic recombination checkpoint is triggered, resulting in extremely delayed meiotic progression. We report that overproduction of the polo-like kinase Cdc5 partially alleviates the meiotic prophase arrest of zip1, leading to the formation of inviable meiotic products. Unlike vegetative cells, we demonstrate that Cdc5 overproduction does not stimulate meiotic checkpoint adaptation because the Mek1 kinase remains activated in zip1 2µ-CDC5 cells. Inappropriate meiotic divisions in zip1 promoted by high levels of active Cdc5 do not result from altered function of the cyclin-dependent kinase (CDK) inhibitor Swe1. In contrast, CDC5 overexpression leads to premature induction of the Ndt80 transcription factor, which drives the expression of genes required for meiotic divisions, including CLB1. We also show that depletion of Cdc5 during meiotic prophase prevents the production of Ndt80 and that CDK activity contributes to the induction of Ndt80 in zip1 cells overexpressing CDC5. Our results reveal a role for Cdc5 in meiotic checkpoint control by regulating Ndt80 function.


Subject(s)
Cell Cycle Proteins/metabolism , DNA-Binding Proteins/metabolism , M Phase Cell Cycle Checkpoints , Meiosis , Protein Kinases/metabolism , Recombination, Genetic , Saccharomyces cerevisiae Proteins/metabolism , Saccharomyces cerevisiae/physiology , Transcription Factors/metabolism , CDC28 Protein Kinase, S cerevisiae/metabolism , Cell Cycle Proteins/genetics , Gene Expression , Nuclear Proteins/genetics , Nuclear Proteins/metabolism , Protein Kinases/genetics , Protein Serine-Threonine Kinases , Protein-Tyrosine Kinases/metabolism , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/growth & development , Saccharomyces cerevisiae Proteins/genetics
16.
DNA Repair (Amst) ; 9(10): 1038-49, 2010 Oct 05.
Article in English | MEDLINE | ID: mdl-20674515

ABSTRACT

To maintain genomic integrity cells have to respond properly to a variety of exogenous and endogenous factors that produce genome injuries and interfere with DNA replication. DNA integrity checkpoints coordinate this response by slowing cell cycle progression to provide time for the cell to repair the damage, stabilizing replication forks and stimulating DNA repair to restore the original DNA sequence and structure. In addition, there are also mechanisms of damage tolerance, such as translesion synthesis (TLS), which are important for survival after DNA damage. TLS allows replication to continue without removing the damage, but results in a higher frequency of mutagenesis. Here, we investigate the functional contribution of the Dot1 histone methyltransferase and the Rad53 checkpoint kinase to TLS regulation in Saccharomyces cerevisiae. We demonstrate that the Dot1-dependent status of H3K79 methylation modulates the resistance to the alkylating agent MMS, which depends on PCNA ubiquitylation at lysine 164. Strikingkly, either the absence of DOT1, which prevents full activation of Rad53, or the expression of an HA-tagged version of RAD53, which produces low amounts of the kinase, confer increased MMS resistance. However, the dot1Δ rad53-HA double mutant is hypersensitive to MMS and shows barely detectable amounts of activated kinase. Furthermore, moderate overexpression of RAD53 partially suppresses the MMS resistance of dot1Δ. In addition, we show that MMS-treated dot1Δ and rad53-HA cells display increased number of chromosome-associated Rev1 foci. We propose that threshold levels of Rad53 activity exquisitely modulate the tolerance to alkylating damage at least by controlling the abundance of the key TLS factor Rev1 bound to chromatin.


Subject(s)
Alkylating Agents/metabolism , Cell Cycle Proteins/metabolism , DNA Damage , Histone-Lysine N-Methyltransferase/genetics , Nuclear Proteins/genetics , Protein Serine-Threonine Kinases/metabolism , Saccharomyces cerevisiae Proteins/genetics , Saccharomyces cerevisiae Proteins/metabolism , Saccharomyces cerevisiae/genetics , Cell Cycle Proteins/genetics , Checkpoint Kinase 2 , DNA Repair , DNA Replication , DNA, Fungal/genetics , DNA, Fungal/metabolism , Histone Methyltransferases , Histone-Lysine N-Methyltransferase/metabolism , Histones/metabolism , Methyl Methanesulfonate/metabolism , Mutagenesis , Nuclear Proteins/metabolism , Phosphorylation , Protein Serine-Threonine Kinases/genetics , Saccharomyces cerevisiae/metabolism
17.
Vet J ; 183(2): 234-7, 2010 Feb.
Article in English | MEDLINE | ID: mdl-19083246

ABSTRACT

The prevalence, intensity and abundance of acuaroid nematodes were determined in the common kestrel (Falco tinnunculus) in Andalusia, Spain. Acuaroid nematodes were present in 26/41 (63.4%) of birds examined. The most common species belonged to the genus Synhimantus subgenus Synhimantus (56%): S. (S.) laticeps (36.5%), S. (S.) robertdollfusi (24.3%) and a single specimen of a third, unknown, Synhimantus (S.) spp., unlike any other described previously (2.4%). Other species identified were Synhimantus (Dispharynx) spp. (2.4%), S. (D.) nasuta (4.8%), Desportesius spinulatus (9.7%) and Skrjabinoclava spp. (2.4%). This is the first record of these three species in F. tinnunculus, but the latter two are considered to be accidental parasites in birds of prey.


Subject(s)
Bird Diseases/epidemiology , Falconiformes/parasitology , Nematode Infections/veterinary , Proventriculus/parasitology , Animals , Bird Diseases/parasitology , Female , Male , Nematode Infections/epidemiology , Prevalence , Spain/epidemiology
18.
Rev cienc méd pinar río ; 11(2/3)mar. 2007. tab, graf
Article in Spanish | CUMED | ID: cum-35938

ABSTRACT

Dados los cambios que se vienen desarrollando en el Sistema Nacional de Salud fue necesario la aplicación del Nuevo Modelo Pedagógico como cambio trascendental en el papel, función y significación de la formación de profesionales para cada servicio, unidad y área de su territorio logrando así la transformación medible, de lo existente, por algo superior, duradero, no efímero con efecto en las personas, la economía, la sociedad o el medio ambiente. Para ello nos proponemos exponer las experiencias del Nuevo Modelo Pedagógico en la carrera de Tecnología y su impacto en el Sector de la Salud, en la Provincia Pinar del Río, tomando como fuentes fundamentales los balances desarrollados en cada territorio así como los informes de claustro y balance de la carrera desde su inicio (AU)


Because of the changes that are taking place in the National Health System it was necessary the application of the new pedagogical model as an outstanding change in the role, function and significance of the formation of professionals for every service , institution and area, attaining the measurable transformation of existence by means of something superior and lasting and having effect on persons, economy , society and environment. We propose to expose the experiences with the NPM in the Technological Major and its impact in the Health Area in Pinar del Río Province taking as the bases the balances developed in every territory as well as the reports by the Academic Staff and the balance of the Major from its beginning (AU)


Subject(s)
Education, Medical , Models, Educational , Teaching/methods , Educational Measurement , Allied Health Personnel
20.
Rev. cuba. pediatr ; 77(2)abr.-jun. 2005.
Article in Spanish | CUMED | ID: cum-28157

ABSTRACT

La acidosis es una manifestación de trastornos metabólicos en el organismo, la cual puede reflejar hipovolemia, hipoxia, sepsis y utilización del metabolismo alternativo en la producción de energía. Su diagnóstico precoz y sobre todo la prevención en el paciente críticamente enfermo condicionan la evolución de este. Existen varias clasificaciones que tratan de reflejar el estado metabólico y hemodinámico del paciente en los servicios de terapia intensiva, sin embargo el problema se presenta en el momento de atender un paciente. Restaurar volumen, alimentar, oxigenar o usar bicarbonato, podrían ser opciones terapéuticas. El problema radica en cuándo hacerlo y cómo. Realizamos esta revisión con el objetivo de actualizar a nuestros médicos con respecto al conocimiento, diagnóstico y atención de la acidosis metabólica en la sepsis(AU)


Subject(s)
Humans , Male , Female , Child , Acidosis/metabolism , Sepsis/complications , Sepsis/metabolism , Homeostasis/physiology
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