Rheumatoid arthritis study of the Egyptian College of Rheumatology (ECR): nationwide presentation and worldwide stance.

To depict the spectrum of rheumatoid arthritis (RA) in Egypt in relation to other universal studies to provide broad-based characteristics to this particular population. This work included 10,364 adult RA patients from 26 specialized Egyptian rheumatology centers representing 22 major cities all over the country. The demographic and clinical features as well as therapeutic data were assessed. The mean age of the patients was 44.8 ± 11.7 years, disease duration 6.4 ± 6 years, and age at onset 38.4 ± 11.6 years; 209 (2%) were juvenile-onset. They were 8750 females and 1614 males (F:M 5.4:1). 8% were diabetic and 11.5% hypertensive. Their disease activity score (DAS28) was 4.4 ± 1.4 and health assessment questionnaire (HAQ) 0.95 ± 0.64. The rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) were positive in 73.7% and 66.7% respectively. Methotrexate was the most used treatment (78%) followed by hydroxychloroquine (73.7%) and steroids (71.3%). Biologic therapy was received by 11.6% with a significantly higher frequency by males vs females (15.7% vs 10.9%, p = 0.001). The least age at onset, F:M, RF and anti-CCP positivity were present in Upper Egypt (p < 0.0001), while the highest DAS28 was reported in Canal cities and Sinai (p < 0.0001). The HAQ was significantly increased in Upper Egypt with the least disability in Canal cities and Sinai (p = 0.001). Biologic therapy intake was higher in Lower Egypt followed by the Capital (p < 0.0001). The spectrum of RA phenotype in Egypt is variable across the country with an increasing shift in the F:M ratio. The age at onset was lower than in other countries.

Interferon gamma and interleukin 8 gene polymorphisms in patients with hepatitis C virus related oral lichen planus.

OBJECTIVES: This study aimed to determine the association of rs2430561 and rs4073 polymorphisms in the Interferon gamma (IFN-ɤ) and Interleukin 8 (IL-8) genes, respectively, with hepatitis C virus-related oral lichen planus and disease severity. DESIGN: This is a case-control study. 60 subjects were equally divided into patients with and without oral lichen planus. They were further subdivided into hepatitis C virus seropositive and seronegative patients. All patients were genotyped for IFN-γ rs2430561 thymine to adenine (T > A) and IL-8 rs4073 adenine to thymine (A > T) polymorphisms. All patients with oral lichen planus had their lesions measured and documented using the Escudier scoring system. RESULTS: Disease activity was significantly higher in the "oral lichen planus/hepatitis C virus-positive" patients than in the "oral lichen planus/hepatitis C virus-negative" patients (P = 0.003). IFN-γ rs2430561 T > A and IL-8 rs4073 A > T genotypes and allele frequencies were not associated with the oral lichen planus group or the normal group. Stratification of the two groups into HCV and non-HCV-infected patients or into erosive and non-erosive types revealed no significant associations. The "A-allele-containing" genotypes of IL-8 rs4073 A > T were significantly more prevalent in the patients with oral lichen planus than in those without. CONCLUSION: Hepatitis C virus infection is associated with the development of erosive oral lichen planus. The A-allele of IL-8 rs4073 A > T may have a role in the development and progression of oral lichen planus.

Diminished soluble levels of growth arrest specific protein 6 and tyrosine kinase receptor Axl in patients with rheumatoid arthritis.

AIM: Growth arrest specific protein 6 (Gas-6) and its tyrosine kinase receptor Axl plays an important role in apoptosis, and regulation of innate immune response, therefore, we investigated their plasma concentrations in Rheumatoid arthritis (RA) patients and correlated them to clinical, laboratory and radiological parameters of the disease. METHODS: Plasma from 77 RA patients and 50 normal healthy subjects were assayed for plasma Gas6 and Axl levels. Demographic, clinical and serological data were prospectively assessed. Rheumatoid arthritis disease activity was assessed using 28-joint Disease Activity Score (DAS-28) and functional capacity by modified health assessment questionnaire (mHAQ). Standardized x-rays for hands and feet were done to all participants. RESULTS: The level of Gas6 and Axl were significantly decreased in the RA patients compared to those of the healthy control subjects. Levels of Gas6 correlated positively with Axl levels in both patients and healthy control. Gas6 levels were remarkably reduced in those patients with erosive RA than those without. Levels of Gas6 were found to be negatively correlated with the presence of erosive disease and positively correlated with DAS-28, ESR, Leucocytosis and IL6. CONCLUSION: The plasma concentrations of Gas6 and Axl are altered in RA patients and thus may have a role in RA pathogenesis. Further mechanistic studies on the involvement of all TAM receptors tyrosine kinases pathway in RA are needed to help in understanding the pathogenesis and possibly aid in diagnosis and future treatments of RA especially for patients with erosive disease.

The association of Varicella zoster virus reactivation with Bell's palsy in children.

OBJECTIVES: Bell's palsy is considered the most common cause of facial nerve paralysis in children. Although different theories have been postulated for its diagnosis, reactivation of the Varicella zoster virus (VZV) has been implicated as one of the causes of Bell's palsy. The aim of the study was to evaluate the association of Varicella-zoster virus infection with Bell's palsy and its outcome in children. METHODS: A total of 30 children with Bell's palsy were recruited and were assayed for evidence of VZV infection. The severity of facial nerve dysfunction and the recovery rate were evaluated according to House-Brackmann Facial Nerve Grading Scale (HB FGS). Paired whole blood samples from all patients were obtained at their initial visit and 3 weeks later, and serum samples were analyzed for VZV IgG and IgM antibodies using ELISA. RESULTS: A significantly higher percentage of Bell's palsy patients were seropositive for VZV IgM antibodies than controls (36.6% of patients vs 10% of controls) while for VZV IgG antibodies the difference was statistically nonsignificant. HB FGS in Bell's palsy patients with serologic evidence of VZV recent infection or reactivation showed a statistiacally significant less cure rate than other patients. CONCLUSIONS: VZV reactivation may be an important cause of acute peripheral facial paralysis in children. The appropriate diagnosis of VZV reactivation should be done to improve the outcome and the cure rate by the early use of antiviral treatment.

Otolaryngologic manifestations of diffuse idiopathic skeletal hyperostosis.

Diffuse idiopathic skeletal hyperostosis (DISH) is characterized by formation of large cervical osteophytes that may compress the posterior wall of the aerodigestive tract. It is a rare cause of dysphagia in the elderly. The aim of this study was to investigate the various otolaryngologic manifestations of DISH. Eleven elderly patients with DISH were included in the study. All patients presented with dysphagia that was graded on the swallowing screening tool (EAT-10), and the diagnosis of DISH was based on computed tomographic criteria. The patients were subjected to otolaryngologic examination and flexible laryngoscopy. Polysomnography was used for patients with excessive daytime sleepiness for detection of obstructive sleep apnea (OSA). In addition to dysphagia of varying severity, OSA was found in nine patients, change of voice in six, globus sensation in seven, aspiration in three, and cervical pain in seven. Flexible laryngoscopy showed bulging of the posterior pharyngeal wall in all patients. DISH may be an unrecognized contributory factor to both dysphagia and OSA in the elderly. Change of voice, aspiration, globus sensation, and cervical pain are other otolaryngologic manifestations that may be encountered symptoms of the disease. An otolaryngologist should be aware of the disease that may be overlooked, and computed tomography is a confirmatory diagnostic method.

Elevated serum TRAIL levels in scleroderma patients and its possible association with pulmonary involvement.

Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) has been reported to be involved in the pathophysiology of some autoimmune diseases as systemic lupus erythematosus, ankylosing spondylitis, and multiple sclerosis. The aim of this study was to assess serum TRAIL concentration in systemic sclerosis (SSc) patients and to investigate its possible association with various disease parameters. Thirty SSc patients as well as 25 rheumatoid arthritis (RA) patients and 25 healthy volunteers were included in the present study. Organ system involvement in SSc patients was investigated. Pulmonary function tests as well as chest high-resolution computed tomography (HRCT) were done to detect pulmonary involvement in our patients. TRAIL concentrations were measured in the sera of SSc patients, RA patients and healthy controls by enzyme-linked immunosorbent assay. Mean serum TRAIL levels were significantly higher in SSc patients than in the control RA patients and in healthy controls (p < 0.001) while they were not significantly different between patients with diffuse cutaneous SSc and patients with limited cutaneous scleroderma. Serum TRAIL levels were significantly higher in SSc patients with pulmonary involvement and were significantly correlated with HRCT scores. Serum TRAIL levels are significantly elevated in SSc patients and are associated with SSc-associated pulmonary involvement denoting a possible role of TRAIL in the pathogenesis of SSc. Further studies may be needed to confirm these findings and the possible use of TRAIL in detection and possibly treatment of SSc-associated pulmonary disease.

Laryngeal involvement in juvenile idiopathic arthritis patients.

Juvenile idiopathic arthritis (JIA) is an autoimmune diseases characterized by chronic arthritis and systemic manifestations. Autoimmune diseases can affect the upper airways including the larynx. The aim of this study was to investigate laryngeal involvement in JIA patients and its possible association with JIA disease parameters. Fifty consecutive JIA patients were screened for laryngeal abnormalities using flexible fiberoptic laryngoscope and laryngeal computerized tomography. Laryngeal abnormalities were detected in nine (18%) of our cases, with cricoarytenoiditis in six cases (12%) and a rheumatoid nodule in the pyriform fossa in only one case (2%). Diffuse congestion and edema of the posterior part of the larynx with normal vocal cord mobility was detected in two cases (4%). In our study, laryngeal abnormalities were significantly higher in patients with polyarticular seropositive disease subtype and also were significantly higher in patients with longer disease duration, higher disease activity scores, and those with erosive disease. JIA may affect the larynx. Laryngeal involvement in JIA patients is more in polyarticular seropositive cases. JIA patients have to be subjected to thorough otolaryngologic examination for early diagnosis and prompt management.

Elevated serum levels of a proliferation-inducing ligand in patients with systemic sclerosis: possible association with myositis?

OBJECTIVE: A proliferation-inducing ligand (APRIL) is a new member of the tumour necrosis factor family which is intimately connected to the regulation of cellular pathways. The aim of this study was to assess serum concentrations of APRIL in systemic sclerosis patients, and to correlate them with the main clinical and serological features of the disease. METHODS: Sera from 35 patients with systemic sclerosis, 25 had limited cutaneous and 10 had diffuse cutaneous subtypes, and 35 normal healthy subjects were assayed for APRIL by Enzyme Linked Immunosorbant Assay. Demographic, clinical, autoantibodies and serological data were prospectively assessed. RESULTS: Serum APRIL concentrations were higher in patients with systemic sclerosis and in both its subtypes compared to the healthy controls (p<0.0001 in all). Patients with elevated APRIL levels had significantly higher incidences of myositis than those with normal levels (p=0.04). We did not find significant differences in other organ involvement prevalence between systemic sclerosis patients with elevated vs. normal APRIL levels. In addition, the frequencies of autoantibodies (i.e., anti-topoisomerase I, anti-centromere) were comparable between both groups. Serum APRIL levels were correlated with serum γ-globulins concentrations (r=0.404, p=0.016) but not with C-reactive protein, skin score, nor pulmonary functions. Serum APRIL was also correlated with creatine kinase levels only in systemic sclerosis patients with myositis (r=0.786, p=0.02). CONCLUSION: Our preliminary results suggest increased serum APRIL levels in systemic sclerosis patients, particularly in those associated with myositis and hypergammaglobinemia. To confirm our results, we propose that larger scale, multicentre studies with longer evaluation periods are needed.

A case of Schwartz-Jampel syndrome with cleft palate.

Schwartz-Jampel syndrome is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and facial dysmorphism. The gene defect involves the 1p34-p36.1 region of chromosome 1. Also, one of the candidate genes for orofacial clefting is the 1p36 region. Cleft palate is the most common congenital anomaly in the head and neck. Despite both diseases share a genetic defect in chromosome 1p36 region, the association of both conditions has not yet been investigated. Feeding problems due to the presence of the cleft may add to the growth retardation that is already present in those patients, so palatoplasty is mandatory. We described a case of Schwartz-Jampel syndrome with cleft palate.