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1.
Pharmacogenomics J ; 22(1): 9-18, 2022 02.
Article in English | MEDLINE | ID: mdl-34711928

ABSTRACT

Acute Graft versus Host Disease (aGvHD) grades 2-4 occurs in 15-60% of pediatric patients undergoing allogeneic haematopoietic stem-cell transplantation (allo-HSCT). The collateral damage to normal tissue by conditioning regimens administered prior to allo-HSCT serve as an initial trigger for aGvHD. DNA-repair mechanisms may play an important role in mitigating this initial damage, and so the variants in corresponding DNA-repair protein-coding genes via affecting their quantity and/or function. We explored 51 variants within 17 DNA-repair genes for their association with aGvHD grades 2-4 in 60 pediatric patients. The cumulative incidence of aGvHD 2-4 was 12% (n = 7) in the exploratory cohort. MGMT rs10764881 (G>A) and EXO rs9350 (c.2270C>T) variants were associated with aGvHD 2-4 [Odds ratios = 14.8 (0 events out of 40 in rs10764881 GG group) and 11.5 (95% CI: 2.3-191.8), respectively, multiple testing corrected p ≤ 0.001]. Upon evaluation in an extended cohort (n = 182) with an incidence of aGvHD 2-4 of 22% (n = 40), only MGMT rs10764881 (G>A) remained significant (adjusted HR = 2.05 [95% CI: 1.06-3.94]; p = 0.03) in the presence of other clinical risk factors. Higher MGMT expression was seen in GG carriers for rs10764881 and was associated with higher IC50 of Busulfan in lymphoblastoid cells. MGMT rs10764881 carrier status could predict aGvHD occurrence in pediatric patients undergoing allo-HSCT.


Subject(s)
DNA Repair/genetics , Genetic Variation , Graft vs Host Disease/genetics , Hematopoietic Stem Cell Transplantation/methods , Adolescent , Antineoplastic Agents, Alkylating/pharmacokinetics , Busulfan/pharmacokinetics , Child , Child, Preschool , Cohort Studies , DNA Modification Methylases/genetics , DNA Repair Enzymes/genetics , Female , Genetic Testing , Hematopoietic Stem Cell Transplantation/adverse effects , Heterozygote , Humans , Incidence , Male , Predictive Value of Tests , Retrospective Studies , Risk Factors , Tumor Suppressor Proteins/genetics
2.
Rev. Fac. Nac. Salud Pública ; 34(2): 175-183, ago. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-957167

ABSTRACT

Objetivo: analizar las experiencias de las autoridades de salud en el ejercicio de la vigilancia del agua de consumo en Colombia, para comprender sus fortalezas y dificultades. Metodología: La investigación se realizó a través de un estudio cualitativo de los componentes de estructura, procesos y resultados del programa de vigilancia. Se construyó un cuestionario mediante la metodología Delphi, aplicado a los coordinadores de la vigilancia en 12 municipios y 27 departamentos. Resultados: se obtuvieron mediante la metodología de análisis de contenido, identificando 3 temáticas relevantes que influyen en la implementación de la vigilancia, entre ellos la descentralización, limitaciones en el recurso humano y la aplicación de las herramientas de evaluación del riesgo. Discusión: el programa de vigilancia en Colombia requiere el fortalecimiento de la rectoría, la capacidad de gestión de los territorios, el establecimiento de una efectiva descentralización y fortalecimiento de la gobernanza, además de instaurar mecanismos que regulen la problemática de recurso humano y evalúen las herramientas de análisis de riesgo y sus resultados.


Objective: to analyze the experiences of health authorities in the exercise of surveillance of drinking water quality in Colombia, with the aim of understanding the strengths and difficulties of its implementation. Methodology: the research was conducted through a qualitative study of the components of structure, processes and results of the surveillance program. A questionnaire was built using the Delphi methodology and applied to surveillance coordinators in 12 municipalities and 27 departments. Results: The results were obtained through the content analysis methodology, and three relevant issues affecting the implementation of surveillance were identified, namely: decentralization, limitations in human resources and the application of risk assessment tools. Discussion: the surveillance program in Colombia requires stronger stewardship, management capacity in the territories, the establishment of effective decentralization measures and the strengthening of governance in addition to establishing mechanisms to regulate the problem of human resources and to assess risk analysis tools and their results.


Objetivo: analisar as experiências das autoridades da saúde na aplicação da vigilância da água para consumo na Colômbia, visando compreender assuas fortalezas e dificuldades. Metodologia: A pesquisa se realizou através de um estudo qualitativo dos componentes da estrutura, dos processos e dos resultados da vigilância. Construiu-se um questionário com metodologia Delphi, aplicado aos coordenadores da vigilância em 12 municípios e em 27 departamentos. Resultados: foram obtidos por meio da metodologia de análise de conteúdo, identificando 3 temáticas relevantes na realização da vigilância: a descentralização, as limitações de recursos humanos e as aplicações das ferramentas de avalição do risco. Discussão: No programa de vigilância na Colômbia precisase o fortalecimento da reitoria, da capacidade de gestão dos territórios, o estabelecimento de uma descentralização efetiva e o fortalecimento da governança. Além disso, precisa mecanismos para regulamentar os problemas de recursos humanos e para avaliar as ferramentas de análise de riscos e seus resultados.

3.
Reumatismo ; 65(2): 63-74, 2013 May 27.
Article in English | MEDLINE | ID: mdl-23877410

ABSTRACT

This systematic review aimed at investigating the role of therapeutic exercise and/or manual therapy in the treatment of hip osteoarthritis (OA). Two independent reviewers (AR, CV) searched PubMed, Cinahl, Cochrane Library, PEDro and Scopus databases and a third one (SP) was consulted in case of disagreement. The research criteria were publication period (from May 2007 to April 2012) and publication language (English or Italian). Ten randomized controlled trials matched inclusion criteria, eight of which concerning therapeutic exercise and two manual therapy. Few good quality studies were found. At mid- and long-term follow-up land-based exercises showed insufficient evidence of effectiveness with respect to pain and quality of life, but positive results were found for physical function. Water exercises significantly reduced fall risk when combined with functional exercises. Programs containing progressive and gradual exposure of difficult activities, education and exercises promoted better outcomes, higher adherence to home program and increased amount of physical activity, especially walking. Manual therapy seemed to reduce pain and decrease disability at short-term. Less use of nonsteroidal anti-inflammatory drugs was statistically significant at long-term follow-up in patients treated with manual therapy. The relationship between clinical results and radiological grade of OA was not investigated. Encouraging results were found in recent literature for manual therapy and functional training. Further research is needed to elucidate this issue through high-quality trials, especially addressing the aspects that have not been thoroughly explored yet, for instance type, amount and scheduling of conservative treatment.


Subject(s)
Exercise Therapy , Musculoskeletal Manipulations , Osteoarthritis, Hip/therapy , Humans
4.
Reumatismo ; 59(3): 192-201, 2007.
Article in Italian | MEDLINE | ID: mdl-17898878

ABSTRACT

UNLABELLED: Several studies on the treatment of musculoskeletal diseases with physiotherapy and clinical experiences on the basis of a method called Rééducation Posturale Globale (RPG), have highlighted the usefulness of this treatment. Although such treatment technique is commonly used in physical therapy practice, only few studies support its therapeutic effectiveness. OBJECTIVE: To search the literature for evidence of RPG effectiveness, in order to identify the most appropriate therapeutic contexts for its use. METHODS: A review of the literature through the following databases: PubMed, Embase, Cinahl, Pedro, and Medscape. The keywords used for the search in the databases are: Rééducation Posturale Globale, Souchard, Posture, and Manual Therapy. The following clinical studies were selected: randomized controlled studies, non-randomized controlled studies, observation studies, and case reports, in English, Spanish, Portuguese, and Italian. RESULTS: Out of 18 studies found, 9 were analyzed: 2 randomized controlled studies, 2 non-randomized controlled studies, 3 non-controlled studies, and 2 case reports. CONCLUSIONS: The RPG method has been shown to be an effective treatment technique for musculoskeletal diseases, in particular for ankylosing spondylitis, acute and chronic low back pain, and lumbar discherniation. Although the scarcity of rigorous experimental trials on a large scale does not allow the drawing of undisputable conclusions, the results gathered up to now are an encouragement to carry on research in the field of conservative treatment.


Subject(s)
Musculoskeletal Diseases/rehabilitation , Physical Therapy Modalities , Posture , Controlled Clinical Trials as Topic/statistics & numerical data , Evidence-Based Medicine , Exercise Therapy/methods , Female , Humans , Male , Randomized Controlled Trials as Topic/statistics & numerical data , Treatment Outcome
5.
Reumatismo ; 56(3): 190-201, 2004.
Article in Italian | MEDLINE | ID: mdl-15470525

ABSTRACT

The recommendations for the management of osteoarthritis (OA) of the knee firstly proposed by the EULAR in 2000, have been updated in 2003. One of the most important objectives of the expert charged to provide these recommendations was their dissemination. Thus, the information generated may be used by each individual country to produce their own set of management guidelines and algorithms for treatment in primary care. The Italian Society of Rheumatology (SIR) and the Italian League against Rheumatism (LIMAR) have organised a Consensus on the EULAR recommendations 2003 with the aim to analyse their acceptability and applicability according to our own experience and local situations in the Italy. The results of this Consensus have demonstrated that a large majority of the EULAR recommendations are endorsed by the Italian experts. Furthermore, the final document of the Italian Consensus clearly indicated the need that specialists involved in the management of knee OA strongly encourage the dissemination of the EULAR 2003 recommendations also in Italy.


Subject(s)
Osteoarthritis, Knee/therapy , Adrenal Cortex Hormones/therapeutic use , Analgesics/therapeutic use , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Antirheumatic Agents/therapeutic use , Arthroplasty, Replacement, Knee , Case Management , Combined Modality Therapy , Humans , Italy , Osteoarthritis, Knee/drug therapy , Patient Education as Topic , Physical Therapy Modalities , Risk Factors , Societies, Medical
9.
Arch Med Res ; 28(2): 219-22, 1997.
Article in English | MEDLINE | ID: mdl-9204612

ABSTRACT

Approximately 28% of the Mexican population has intestinal parasites. Oncologic patients receiving chemotherapy should have a coproparasitoscopic study to avoid disseminated parasitic infections. The frequency of intestinal parasites, including Cryptosporidium and Isospora, was evaluated in 100 diarrheic (DS) and 100 formed stools (FS) from adult patients recently diagnosed with cancer, using wet mounts stained with Kinyoun, saccharose and ZnSO4 procedures stained with Lugol's iodine. Seven patients with DS and three with FS had more than one parasite. Pathogenic intestinal parasites were seen in 26% of DS and 15% of FS. Of the frequent parasites, Entamoeba histolytica was found in 12 DS and in 2 FS (p = 0.01), Giardia lamblia in three DS and six FS and Hymenolepis nana in eight DS and 10 FS. Other pathogenic parasites were found only in DS: Cryptosporidium sp. in five patients, Ascaris lumbricoides in two, Strongyloides stercoralis in two and Isospora sp. in one. Cryptosporidium and Isospora were only identified by wet mounts stained with Kinyoun while other parasites were identified by flotation procedures. Since six (3%) of our patients had coccidia, the laboratory must perform special techniques for their detection. In epidemiologic settings where there is a high prevalence of intestinal parasitic infections the coproparasitoscopic studies should be performed and antiparasitic treatment provided before starting chemotherapy.


Subject(s)
Intestinal Diseases, Parasitic/epidemiology , Neoplasms/epidemiology , Adult , Carcinoma/epidemiology , Comorbidity , Diarrhea/etiology , Diarrhea/parasitology , Feces/parasitology , Female , Humans , Intestinal Diseases, Parasitic/diagnosis , Intestinal Diseases, Parasitic/parasitology , Male , Mexico/epidemiology , Prevalence , Prospective Studies , Uterine Cervical Neoplasms/epidemiology
10.
Med. interna Méx ; 13(3): 141-5, mayo-jun. 1997.
Article in Spanish | LILACS | ID: lil-227017

ABSTRACT

El adenocarcinoma de corteza suprarrenal es una neoplasia poco frecuente y agresiva que puede producir diversos síndromes endocrinológicos. Ante una enfermedad avanzada las expectativas de vida son de 9 por ciento a cinco años. Se ha propuesto que el tratamiento con o,p' DDD (mitotane) puede mejorar el pronóstico de estos pacientes. Se comunica el caso de un hombre de 43 años de edad, que inicialmente fue atendido por dolor en las fosas renales y edema de miembros pélvicos. En la tomografía axial computada se detectó una tumoración aparentemente renal. Durante la laparotomía exploradora se realizó una nefrectomía izquierda, donde se observó tumoración suprarrenal y lesión hepática metastásica. El diagnóstico de adenocarcinoma de corteza suprarrenal metastásico al hígado se confirmó mediante análisis patológico. Un mes después fue readmitido por desarrollo progresivo de anasarca, deshidratación y descontrol metabólico. El tratamiento se inició a base de mitotante a dosis escalatoria, sin lograr demostrar respuesta. Quince días después falleció en forma súbita por probable tromboembolia pulmonar. Se concluye que el tratamiento con mitotane puede tener efectos benéficos en el pronóstrico de esta neoplasia, sin embargo, los resultados son controvertidos. Actualmente, se investigan nuevas estrategias de tratamiento para el manejo de estos pacientes


Subject(s)
Humans , Male , Middle Aged , Adenocarcinoma/diagnosis , Adenocarcinoma/pathology , Adrenal Cortex Neoplasms/diagnosis , Adrenal Cortex Neoplasms/pathology , Tomography
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