Immunogenetic Relationship of HLA-G 14 bp Insertion/Deletion Polymorphism and Toll-Like Receptor 9 with Systemic Lupus Erythematosus in Egyptian Patients: A Case-Control Study.

INTRODUCTION: The level of expression of the immunoregulatory human leukocyte antigen-G (HLA-G) has been suggested to play a role in the immunopathogenesis of systemic lupus erythematosus (SLE). A 14 bp insertion/deletion (ins/del) polymorphism in the 3'untranslated region of HLA-G gene may influence the level of expression. The role of Toll-like receptor 9 (TLR9) in the pathogenesis of SLE has been highlighted. Data among Egyptian patients are quite limited. PURPOSE: To detect the association of HLA-G 14 bp ins/del gene polymorphism with the susceptibility to SLE and to correlate TLR9 serum level with disease activity among Egyptian patients. PATIENTS AND METHODS: A case-control study that included 102 SLE female patients and 102 healthy matched volunteers as controls was carried out. Disease activity in patients was determined using the modified Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). HLA-G 14 bp ins/del genotype was detected by polymerase chain reaction (PCR). TLR9 serum level was estimated using enzyme-linked immunosorbent assay (ELISA) technique. RESULTS: The ins/ins genotype was significantly increased among SLE patients compared to healthy subjects (58.8% vs 9.8%; odds ratio [OR] = 11.79, P < 0.001). The 14 bp ins allele was significantly more frequent in SLE patients than in healthy subjects (65.7% vs 27.9%, respectively) and significantly associated with an increased risk of SLE (OR 4.94, P < 0.001). The mean TLR9 serum level showed a significant increase in SLE patients compared to healthy subjects (397.04±137.86 vs 195.22±45.14 ng/L, p < 0.001) and was significantly associated with disease activity as well as to patients' HLA-G genotypes (p < 0.001). CONCLUSION: Among Egyptian population, HLA-G 14 bp ins/ins homozygous genotype and ins allele may constitute a potential risk for SLE susceptibility, while TLR9 serum level is significantly associated with disease activity.

Functional Disability among Systemic Sclerosis Patients: Relation to Disease Characteristics and Quality of Life Parameters.

BACKGROUND: Disability in patients with scleroderma (SSc) has been associated with poor health-related quality of life (HRQoL) in all dimensions, including physical, psychological, and social dimensions. OBJECTIVE: This study was conducted to examine different factors that may be associated with functional disability and poor HRQoL, with the aim of targeting these factors in the future to improve physical activity, functional outcomes, and HRQoL. METHODS: A single-center cross-sectional study was conducted on 38 patients with SSc to compare characteristics between patients with and without disability using the Health Assessment Questionnaire Disability Index (HAQ-DI). Quality of life was assessed using the Short Form-36 (SF-36). Linear regressions were performed to examine variables contributing to functional disability. RESULTS: Almost 65.78% (n = 25) of patients in the study group reported functional disability. The presence of functional disability was associated with reduced HRQoL, as reflected by physical function (P = 0.0001), physical role (P = 0.016), bodily pain (P = 0.001), general health (P = 0.002), social functional (P = 0.002), emotional role (P = 0.042), and mental health (P = 0.025) domains of the SF-36 score. Multiple linear regression indicated that the main predictive factors associated with HAQ-DI were the modified Hand Mobility in Scleroderma, modified Rodnan skin score, DIstance walked in 6 minutes, BOrg dyspnea index, and SAturation of oxygen at 6 minutes (DIBOSA), and Fatigue Severity Scale among patients with SSc. CONCLUSION: In patients with SSc, recognizing the relationships between clinical findings and functional disability will allow the development of further management strategies to minimize disease severity and enhance HRQoL.

Construct validity of a clinically correlated knee osteoarthritis ultrasonographic scale: a cross-sectional observational study.

OBJECTIVES: To assess the validity of a novel ultrasonographic scale for knee osteoarthritis (KOA) and its relation with the degree of pain and clinical features. DESIGN: A cross-sectional observational study including 245 patients with knee pain who fulfilled the American College of Rheumatology criteria for KOA. All patients were subjected to clinical assessment Western Ontario and McMaster Universities Index of Osteoarthritis (WOMAC) scale, global visual analogue scale (VAS) and functional assessment through the use of Health Assessment Questionnaire-II (HAQ-II). Ultrasonographic assessment was conducted following ZAGAZIG scale comprising five domains: one for degenerative features (one-third of total score) and the other four for inflammatory features (two-thirds of score). RESULTS: There were positive correlations between ZAGAZIG score and all WOMAC subscales (pain, stiffness and function) (r=0.71, p=0.00; r=0.62, p=0.00; r=0.70, p=0.00, respectively).Moreover, there was a strong positive correlation between ZAGAZIG scale and both VAS and HAQ-II (r=0.82, p=0.00 and r=0.67, p=0.00). At cut-off point of >5, total US score distinguishes between patients with KOA with no or mild pain and those with moderate pain (87.2 sensitivity and 87.2 specificity). At cut-off point of 7, total score of ZAGAZIG scale distinguishes between patients with KOA with moderate pain and those with severe pain (94.5 sensitivity and 42.5 specificity). CONCLUSION: ZAGAZIG scale constitutes a validated tool for KOA assessment. ZAGAZIG scale correlated with WOMAC subscales (pain, stiffness and function), VAS and HAQ.

Factors contributing to disability in rheumatoid arthritis patients: an Egyptian multicenter study / Factores que contribuyen a la discapacidad en pacientes con artritis reumatoide: un estudio multicéntrico egipcio

OBJECTIVE: Minimizing disability and enhancing physical function to its optimal levels is still a challenge in management of rheumatoid arthritis (RA). The aim is to identify factors leading to disability in RA. METHODS: This is a cross-sectional Egyptian multicenter study carried out on 215 RA patients attending to our inpatient and outpatient rheumatology clinics during 4 months starting from April to July 2017 who agreed to participate in the study; 170 patients were from Cairo University hospitals and 45 from Zagazig University hospitals. We recorded a number of possible risk factors including demographic, clinical, serological and therapeutic factors. The assessment of patients' disability was done using Modified HAQ (MHAQ). RESULTS: A significant positive correlation was found between MHAQ and different markers of activity in addition to age and depression score (P<0.001). Illiteracy accounted for higher MHAQ scores (P=0.001). A higher MHAQ was found in patients with ischemic heart disease (P<0.05). Patients with erosions on X-rays had significantly higher MHAQ scores. Subluxations also accounted for higher MHAQ scores (P=0.000). CONCLUSION: Aging, illiteracy, disease activity, erosions, subluxations, depression and ischemic heart disease were all related to higher disability. Good control of disease activity which in turn reduces erosions and subluxations is mandatory. Screening for depression and proper use of anti-depressants is of great value. Proper screening and prophylaxis is recommended against ischemic heart disease by controlling modifiable risk factors like obesity, dyslipidaemia, hypertension, smoking and sedentary lifestyle

OBJETIVO: Minimizar la discapacidad y mejorar la función física hasta sus niveles óptimos sigue siendo un desafío en el tratamiento de la artritis reumatoide (AR). El objetivo es identificar los factores que conducen a la discapacidad en la AR. MÉTODOS: Se trata de un estudio multicéntrico egipcio de corte transversal llevado a cabo en 215 pacientes con AR que asisten a nuestras clínicas de reumatología para pacientes internados y ambulatorios durante 4 meses, desde abril a julio de 2017, que aceptaron participar en el estudio; 170 pacientes eran de hospitales de la Universidad de El Cairo y 45 de hospitales de la Universidad de Zagazig. Registramos una serie de posibles factores de riesgo que incluyen factores demográficos, clínicos, serológicos y terapéuticos. La evaluación de la discapacidad de los pacientes se realizó utilizando HAQ modificado (MHAQ). RESULTADOS: Se encontró una correlación positiva significativa entre MHAQ y diferentes marcadores de actividad además de la puntuación de edad y depresión (p < 0,001). El analfabetismo representó un puntaje MHAQ más alto (p = 0,001). Se encontró un MHAQ más alto en pacientes con cardiopatía isquémica (p < 0,05). Los pacientes con erosiones en los rayos X tuvieron puntajes de MHAQ significativamente más altos. Las subluxaciones también representaron puntuaciones más altas de MHAQ (p = 0,000). CONCLUSIÓN: El envejecimiento, el analfabetismo, la actividad de la enfermedad, las erosiones, las subluxaciones, la depresión y la cardiopatía isquémica se relacionaron con una mayor discapacidad. El buen control de la actividad de la enfermedad que a su vez reduce las erosiones y las subluxaciones es obligatorio. La detección de la depresión y el uso adecuado de antidepresivos es de gran valor. Se recomienda la detección y profilaxis adecuada de la cardiopatía isquémica controlando los factores de riesgo modificables como la obesidad, la dislipidemia, la hipertensión, el tabaquismo y el estilo de vida sedentario

Factors contributing to disability in rheumatoid arthritis patients: An Egyptian multicenter study.

OBJECTIVE: Minimizing disability and enhancing physical function to its optimal levels is still a challenge in management of rheumatoid arthritis (RA). The aim is to identify factors leading to disability in RA. METHODS: This is a cross-sectional Egyptian multicenter study carried out on 215 RA patients attending to our inpatient and outpatient rheumatology clinics during 4 months starting from April to July 2017 who agreed to participate in the study; 170 patients were from Cairo University hospitals and 45 from Zagazig University hospitals. We recorded a number of possible risk factors including demographic, clinical, serological and therapeutic factors. The assessment of patients' disability was done using Modified HAQ (MHAQ). RESULTS: A significant positive correlation was found between MHAQ and different markers of activity in addition to age and depression score (P<0.001). Illiteracy accounted for higher MHAQ scores (P=0.001). A higher MHAQ was found in patients with ischemic heart disease (P<0.05). Patients with erosions on X-rays had significantly higher MHAQ scores. Subluxations also accounted for higher MHAQ scores (P=0.000). CONCLUSION: Aging, illiteracy, disease activity, erosions, subluxations, depression and ischemic heart disease were all related to higher disability. Good control of disease activity which in turn reduces erosions and subluxations is mandatory. Screening for depression and proper use of anti-depressants is of great value. Proper screening and prophylaxis is recommended against ischemic heart disease by controlling modifiable risk factors like obesity, dyslipidaemia, hypertension, smoking and sedentary lifestyle.