Manal Abdou

Progressive pseudorheumatoid dysplasia (PPRD), a rare autosomal recessive syndrome, is a type of skeletal dysplasia associated with pain, stiffness, swelling of multiple joints, and the absence of destructive changes. PPRD occurs due to loss of function pathogenic variants in WISP3 (CCN6) gene, located on chromosome 6q22. In this study, 23 unrelated Egyptian PPRD patients were clinically diagnosed based on medical history, physical and radiological examinations, and laboratory investigations. Sequencing of the whole WISP3 (CCN6) exons and introns boundaries was carried out for all patients. A total of 11 different sequence variations were identified in the WISP3 (CCN6) gene, five of them were new pathogenic variants: the NM_003880.3: c.80T>A (p.L27*), c.161delG (p.C54fs*12), c.737T>C (p.Leu246Pro), c.347-1G>A (IVS3-1G>A), and c.376C>T (p.Q126*). The results of this study expand the spectrum of WISP3 (CCN6) pathogenic variants associated with PPRD. Clinical and genetic analysis is important for proper genetic counseling to curb this rare disorder in the families.

AIM: To detect premature atherosclerosis in systemic sclerosis (SSc) patients and its relation to disease parameters and traditional risk factors.

METHOD: This study included 40 SSc patients and 40 healthy age and sex matched controls. All patients were subjected to full history taking, clinical examination, relevant laboratory and radiological investigations. Doppler ultrasonography (US) of the common carotid was performed to measure intima-media thickness (ccIMT) and Doppler US of the brachial artery was performed to measure flow mediated dilatation (FMD).

RESULTS: The mean value of ccIMT was 0.59 ± 0.2 mm in SSc patients and 0.51 ± 0.09 mm in controls and the difference was significant (P = 0.03). A statistically significant difference was found in mean brachial artery diameter before and after hyperemia, in flow change and in FMD between SSc patients and controls. ccIMT showed significant positive correlation with age, C-reactive protein (CRP), cholesterol, triglycerides and low density lipoprotein (P < 0.05). FMD showed significant positive correlation with daily dose of steroids (P = 0.04). Brachial artery diameter after hyperemia showed significant negative correlation with erythrocyte sedimentation rate (ESR). Peak systolic velocity before ischemia showed significant positive correlation with body mass index (BMI) and significant negative correlation with insulin level.

CONCLUSION: Our findings confirm the presence of premature atherosclerosis in SSc patients assessed by significant impairment of FMD, flow change and ccIMT, and it is associated with traditional cardiovascular risk factors such as age, dyslipidemia and obesity (BMI) as well as with the use of steroids and markers of inflammation such as CRP and ESR.

BACKGROUND: Systemic sclerosis (SSc) is a rare systemic connective tissue disease characterized by abnormal fibroblast proliferation and micro-vascular inflammatory changes.

AIM: To assess serum B-cell activating factor (BAFF) levels in patients with systemic sclerosis and to correlate this with disease features and disease severity.

METHODS: This is a case-control study in which patients with the established diagnosis of SSc were recruited. The diagnosis of SSc was established according to the American Rheumatology Association 1980 criteria for the classification of scleroderma. Patients' assessment included evaluation of skin involvement using the Modified Rodnan score and disease severity using the Medsger score. Twenty-five healthy matching controls were included. The sandwich enzyme-linked immunosorbent assay technique was used for direct assessment of serum BAFF in patients and controls.

RESULTS: The study included 60 patients (54 female and 6 male), with a mean age of 38.18 ± 12.06 years, with mean disease duration of 7.85 ± 4.075 years. Serum BAFF in patients ranged 98.2-5015 pg/mL with mean BAFF 1100 ± 835.4 pg/mL. In controls serum BAFF levels ranged 188.5-2314 pg/mL with mean BAFF 546.1 ± 471.1 pg/mL, showing a statistically significant elevation of serum BAFF levels in SSc patients (P = 0.0001) with insignificant correlation to skin disease or total Medsgar Score of the study population (P > 0.05). Serum BAFF levels showed significant correlation with episodes of pseudo-obstruction and methotrexate (MTX) use in the patients studied (P < 0.05).

CONCLUSION: Serum BAFF levels were significantly elevated in patients with SSc irrespective of disease subtype, disease duration or age of patients. This elevation in serum BAFF significantly related to gastrointestinal track involvement and MTX therapy.