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1.
Global Spine J ; : 21925682231192847, 2023 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-37549640

RESUMO

STUDY DESIGN: Multicenter prospective cohort study. OBJECTIVES: Anxiety in combination with osteoporotic vertebral compression fractures (OVCFs) of the spine remains understudied. The purpose of this study was to analyze whether anxiety has an impact on the short-term functional outcome of patients with an OVCF. Furthermore, a direct impact of the fracture on the patient's anxiety during hospitalization should be recognized. METHODS: All inpatients with an OVCF of the thoracolumbar spine from 2017 to 2020 were included. Trauma mechanism, analgetic medication, anti-osteoporotic therapy, timed-up-and-go test (TuG), mobility, Barthel index, Oswestry-Disability Index (ODI) and EQ5D-5L were documented.For statistical analysis, the U test, chi-square independence test, Spearman correlation, General Linear Model for repeated measures, Bonferroni analysis and Wilcoxon test were used. The item anxiety/depression of the EQ5D-5L was analyzed to describe the patients' anxiousness. RESULTS: Data from 518 patients from 17 different hospitals were evaluated. Fracture severity showed a significant correlation (r = .087, P = .0496) with anxiety. During the hospital stay, pain medication (P < .001), anti-osteoporotic medication (P < .001), and initiation of surgical therapy (P < .001) were associated with less anxiety. The anxiety of a patient at discharge was negatively related to the functional outcomes at the individual follow-up: TuG (P < .001), Barthel index (P < .001), ODI (P < .001) and EQ5D-5L (P < .001). CONCLUSIONS: Higher anxiety is associated with lower functional outcome after OVCF. The item anxiety/depression of the EQ5D-5L provides an easily accessible, quick and simple tool that can be used to screen for poor outcomes and may also offer the opportunity for a specific anxiety intervention.

2.
Mol Genet Metab ; 129(4): 243-254, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32033911

RESUMO

Undiagnosed rare diseases (URDs) account for a significant portion of the overall rare disease burden, depending upon the country. Hence, URDs represent an unmet medical need. A specific challenge posed by the ensemble of the URD patient cohort is the heterogeneity of its composition; the group, indeed, includes very rare, still unidentified conditions as well as clinical variants of recognized rare diseases. Exact disease recognition requires new approaches that cut across national and institutional boundaries, may need the implementation of methods new to diagnostics, and embrace clinical care and research. To address these issues, the Undiagnosed Diseases Network International (UDNI) was established in 2014, with the major aims of providing diagnoses to patients, implementing additional diagnostic tools, and fostering research on novel diseases, their mechanisms, and their pathways. The UDNI involves centres with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis, in particularly for ultra-rare diseases. Consequently, the UDNI fosters the translation of research into medical practice, aided by active patient involvement. The goals of the UDNI are to work collaboratively and at an international scale to: 1) provide diagnoses for individuals who have conditions that have eluded diagnosis by clinical experts; 2) gain insights into the etiology and pathogenesis of novel diseases; 3) contribute to standards of diagnosing unsolved patients; and 4) share the results of UDNI research in a timely manner and as broadly as possible.


Assuntos
Saúde Global , Serviços de Informação/organização & administração , Cooperação Internacional , Doenças Raras/diagnóstico , Doenças não Diagnosticadas , Pesquisa Biomédica , Humanos , Doenças Raras/etiologia , Fatores de Tempo
3.
Cytogenet Genome Res ; 139(4): 250-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23548696

RESUMO

Array comparative genomic hybridization (aCGH) technology is commonly used to estimate genome-wide copy-number variation and to evaluate associations between copy number and disease. Although aCGH technology is well developed and there are numerous algorithms available for estimating copy number, little attention has been paid to the important issue of the statistical experimental design. Herein, we review classical statistical experimental designs and discuss their relevance to aCGH technology as well as their importance for downstream statistical analyses. Furthermore, we provide experimental design guidance for various study objectives.


Assuntos
Hibridização Genômica Comparativa/métodos , Variações do Número de Cópias de DNA , Genética Populacional/métodos , Ligação Competitiva , Cromossomos Humanos/genética , Sondas de DNA/genética , Estudos de Associação Genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Genoma Humano , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Padrões de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
Ann Trop Paediatr ; 12(2): 165-8, 1992.
Artigo em Inglês | MEDLINE | ID: mdl-1381891

RESUMO

The children of 50 women positive for antibody to human immunodeficiency virus type 1 (HIV-1) and 42 children of antibody-negative mothers were examined for lymphadenopathy and hepatosplenomegaly at 3-month intervals during the 1st year of life. Lymphadenopathy was found to be significantly more frequent at 6 months (p less than 0.01), 9 months (p less than 0.001) and 12 months (p less than 0.01) in children who were subsequently shown to be infected with HIV-1. Hepatomegaly was seen more frequently (p less than 0.05) in the 1st year in HIV-1-infected children than in uninfected children. Splenomegaly was not more frequent in HIV-1-infected children in this area which is holoendemic for falciparum malaria.


Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , HIV-1 , Doenças Linfáticas/complicações , Sorodiagnóstico da AIDS , Síndrome da Imunodeficiência Adquirida/diagnóstico , Síndrome da Imunodeficiência Adquirida/imunologia , República Democrática do Congo , Hepatomegalia/complicações , Humanos , Lactente , Estudos Longitudinais , Esplenomegalia/complicações
6.
Trans R Soc Trop Med Hyg ; 85(6): 829-32, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1801367

RESUMO

Haemoglobin levels were measured in 2950 pregnant women attending antenatal clinics in Kimpese, Bas Zaire. 72% were suffering from moderate anaemia (haemoglobin (Hb) 7-11 g/dl) and 3.7% from severe anaemia (Hb less than 7 g/dl) at their first visit, before receiving any haematinics or anti-malarial prophylaxis. Haemoglobin levels rose with both increasing parity (P less than 0.001) and age. Multiple regression analysis revealed that parity was significant but age was not. The fall in haemoglobin early in the second trimester was greatest in primigravidae and diminished with successive pregnancies until the fourth. One in 6 primigravidae approached labour with a haemoglobin level less than 7.7 g/dl. Thick blood smears were examined from 379 women who presented in the first and second trimester. 70% of primigravidae had malaria parasitaemia, compared with 13% of multigravidae (P less than 0.001). Early malaria prophylaxis in the first 2 pregnancies is an important primary health care objective if the contribution of malaria to the significant fall in haemoglobin in the second trimester is to be averted.


Assuntos
Anemia/etiologia , Complicações Hematológicas na Gravidez/etiologia , Síndrome da Imunodeficiência Adquirida/complicações , Adolescente , Adulto , Fatores Etários , República Democrática do Congo , Feminino , Hemoglobinas/análise , Humanos , Malária/sangue , Malária/complicações , Paridade , Gravidez , População Rural , Fatores de Tempo
8.
Br J Cancer ; 64(2): 227-32, 1991 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-1654072

RESUMO

Thirty-five cases of Hodgkin's disease (HD) were analysed for the presence of Epstein-Barr virus (EBV) and human herpesvirus-6 (HHV-6) DNA. EBV genomes were detected in 11/35 cases while none of the cases was positive for HHV-6. Ten of the EBV-positive cases were subsequently analysed using a probe for the terminal region of the virus; the results suggested that the EBV-infected cells were clonally expanded. EBV subtypes specific DNA amplification was used to demonstrate that EBV subtype A, and not subtype B was present in the EBV-positive cases. The age distribution of the EBV-positive cases indicated a statistically significant trend for an increase in positivity with increasing age. This is the first indication that EBV is significantly associated with any subset of HD patients.


Assuntos
DNA Viral/análise , Herpesvirus Humano 4/genética , Doença de Hodgkin/microbiologia , Adolescente , Adulto , Fatores Etários , Idoso , Sequência de Bases , Southern Blotting , Amplificação de Genes , Humanos , Pessoa de Meia-Idade , Dados de Sequência Molecular
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