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1.
Heliyon ; 9(7): e18111, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37519703

RESUMEN

Introduction: Geriatric Locomotive Function Scale-25 (GLFS-25) is a 25-item tool most commonly used to diagnose locomotive syndrome in the elderly. The purpose of the present study was to investigate the validity and reliability of the GLFS-25 questionnaire using factor analysis. Materials and methods: This descriptive-analytical study was conducted on 186 elderly people. The GLFS-25 questionnaire contains 25 items, and each item is scored on a five-point Likert scale from 0 to 4. Data were analyzed by SPSS V.19 software. Descriptive (frequency, percentage, mean, and standard deviation) and inferential (Cronbach's alpha, correlation coefficient, Bartlett test, KMO index, scree plot, and factor analysis) statistics were used to present the findings. Results: Factor analysis revealed two hidden factors in the four dimensions of the questionnaire (i.e., pain, daily activities, social relations, and mental health). The first factor, named mobility and its consequential concerns), with a variance percentage of 74.323, had an effect on questions No. 19, 11, 25, 16, 6, 24, 5, 4, and 3. The second factor, named the problems and risks associated with daily and social activities, with a variance percentage of 78.680, had an effect on questions No. 17, 22, 7, 18, 14, 20, 13, 9, 12, 8, 10, 21, 2, 15, 1, and 23. Cronbach's alpha coefficient among the questionnaire's dimensions was 78.4%. Conclusion: The GLFS-25 questionnaire can be used as a valid and reliable tool to diagnose locomotive syndrome in the elderly.

2.
Hum Mutat ; 43(4): e1-e23, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35005816

RESUMEN

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.9%). Furthermore, 106/289 patients who were referred with positive findings went through reanalysis and confirmatory tests which confirmed MPS diagnosis in 104. Among the total of 258 MPS patients, 225 were homozygous, 90 harbored novel variants, and 9 had copy number variations. MPS IV was the most common type (34.8%) followed by MPS I (22.7%) and MPS VI (22.5%). Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281C>A [p.Ser94*]), GALNS (c.319G>A [p.Ala107Thr], c.860C>T [p.Ser287Leu], c.1042A>G [p.Thr348Ala]), and IDUA (c.1A>C [p.Met1Leu], c.1598C>G [p.Pro533Arg], c.1562_1563insC [p.Gly522Argfs*50]). Our extensive patient cohort reveals the genetic and geographic landscape of MPS in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants.


Asunto(s)
Condroitinsulfatasas , Mucopolisacaridosis , Mucopolisacaridosis I , Mucopolisacaridosis VI , Condroitinsulfatasas/genética , Variaciones en el Número de Copia de ADN , Humanos , Irán/epidemiología , Mucopolisacaridosis/diagnóstico , Mucopolisacaridosis/genética , Mucopolisacaridosis I/diagnóstico , Mucopolisacaridosis I/epidemiología , Mucopolisacaridosis I/genética , Mucopolisacaridosis VI/genética
3.
Infect Disord Drug Targets ; 21(8): e211221191975, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33653256

RESUMEN

INTRODUCTION: COVID-19 has caused a great deal of fear in different communities. In this study, we reported the recovery of a diabetic elderly woman with a history of asthma from COVID-19 infection. CASE PRESENTATION: A 61-year-old woman was hospitalized due to dyspnea and low blood O2 saturation and was later diagnosed with COVID-19, as confirmed by PCR. The patient had a history of asthma and diabetes and used salbutamol and Atrovent spray. She also had a history of hospitalization at one month prior to the current admission. Despite all these, COVID-19 was successfully managed, and she was discharged with a good clinical condition after the improvement of respiratory complications. CONCLUSION: Despite having an advanced age and underlying diseases (diabetes and asthma), the recovery of this elderly woman shows that even such patientscandefeatCOVID-19 as long as the disease is not progressed to advanced phases and appropriate therapeutic measures are taken. By reporting such cases, it is possible to give people hope and motivation and reduce their fear of the disease.


Asunto(s)
Asma , COVID-19 , Diabetes Mellitus , Anciano , Asma/complicaciones , Asma/tratamiento farmacológico , Femenino , Hospitalización , Humanos , Persona de Mediana Edad , SARS-CoV-2
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