Serum levels of hyaluronic acid [HA] and cartilage oligomeric matrix protein [COMP] as predictors of disease progression in rheumatoid arthritis

To measure the serum concentrations of specific cartilage and bone molecules reflecting tissue turnover to investigate disease activity. The study included 30 rheumatoid arthritis [RA] patients with age range 42 - 66 years. Sixteen patients had rapid erosive disease and fourteen had slow erosive, compared with 20 matched apparently healthy volunteers. All studied individuals were subjected to full history taking, clinical examination and laboratory investigations including measurement of serum levels of cartilage oligomeric matrix protein [COMP], hyaluronic acid [HA], high sensitive C- reactive protein [CRP], erythrocyte sedimentation rate [ESR] and RF concentration as well as measurement of activity of RA by disease activity score [DAS] 28 joint counts. The study showed a significantly higher values of COMP, HA, CRP and ESR in slow erosive [p<0.001] and rapid erosive [p<0.0001] RA patients when compared to controls. There were significantly higher values of COMP, HA, CRP and ESR in rapid erosive RA patients compared to slow erosive RA patients. A significant positive correlation between serum levels of COMP and HA and age, disease duration, Larsen score, DAS and CRP and ESR was found. Also there was a significant positive correlation between serum levels of COMP and HA [r = 0.674, p<0.01]. It could be concluded that the measurement of some serological biomarkers that reflect bone and cartilage destruction in RA patients, could be used to investigate disease activity and increase the knowledge of the basic pathophysiology of joint disease

Continual infusion of intrathecal baclofen [ITB]: long term effect on spasticity

Spasticity is a disorder of muscular function causing muscular tightness or spasm which occurs when there is damage to the central nervous system whether it is of spinal cord or brain origin. This insult could be either pathological or traumatic. Thirty-three patients had intrathecal Baclofen pumps implanted for severe spasticity. These patients either did not respond to or tolerate oral medications. All patients showed significant improvement in their spasms following the procedure. Improvement was noted not only in spasticity, but also in pain, management of sleep disturbance, activities of daily living, indoor and outdoor mobility and behavior. The number of complications was acceptable, and generally were not lifethreatening. Infection was the significant complication in two patients and this led to explantation of their pumps. Patient satisfaction was very high and was related to improvement in the quality of life for the patients

Low incidence of androgen receptor mutation among Egyptian children with androgen resistance

In Egypt, disorders of sex development [DSD] constitute a significant entity among the birth defect list. Previous studies have reported that end organ androgen unresponsiveness, i.e. Androgen resistance, was the most prevalent underlying mechanism among Egyptian 46, XY DSD cases. Based on cytogenetic and hormonal diagnostic criteria as well as few sporadic case reports, it was proposed that androgen receptor [AR] defects [i.e. Androgen insensitivity syndrome [AIS], OMIM#300068] might constitute a major etiology within this category. However, this has never been systematically ascertained through an AR molecular diagnostic approach. The current study aimed to assess the role of AR mutations as an underlying etiology among a sample of Egyptian 46,XY DSD pediatric patients presenting with androgen end organ unresponsiveness. In the current study, 21 children [age <18years] with male undermasculinization due to androgen end organ unresponsiveness were selected from 46, XY DSD cases. The selection criteria included ambiguous genital phenotype or genitalia discordant to the genotypic sex; 46,XY Karyotype and normal testicular response to HCG stimulation in prepubertal -patients or normal basal testosterone [T] levels in postpubertal subjects. Molecular studies of the AR entailed PCR amplification for screening of major deletions/ insertions, single stranded conformational polymorphism [SSCP] screening for point mutations in the AR 2-8 exons followed by sequencing of these exons for all cases. The results showed that none had major deletions/insertions. Five exons out of 147 [3.4%] showed abnormal SSCP migrational patterns. Out of those 5, two mutations in two Egyptian patients were detected by sequencing. The first was R840G [Arginine 840 glycine], in exon 7 [The ligand binding domain]. The other was A596T [Alanine 596 Threonine] in exon 3 [The DNA binding domain]. This study shows that AR mutation is an uncommon underlying etiology among Egyptian paediatric 46,XY cases

Abnormal glucose tolerance in beta-thalassemia patients: possible risk factors

In beta-thalassemia major, transfusional iron overload lead to impaired glucose tolerance [IGT] then diabetes mellitus [DM]. The pathogenetic mechanisms leading from siderosis to diabetes are still poorly understood. To assess the glycometabolic status in transfusion-dependent Egyptian beta-thalassemia patients and to evaluate the possible risk factors for abnormal glucose tolerance [AGT] in them. Oral glucose tolerance test [OGTT] was done to 54 multi-transfused thalassemic patients, aged 10.1-25.1 years, and 28 age-matched normal controls with measuring serum insulin level at 0, 120 minutes. Insulin sensitivity and insulin release index were calculated according to the homeostasis model assessment [HOMA], fasting insulin glucose ratio [FIG], insulin sensitivity index for glycemia [ISl gly] and fasting insulin resistance index [FIRI]. Indicator of iron overload and liver status were recorded. Thirteen patients [24.1%] were diagnosed to have variable degrees of AGT; either DM in 6 cases [11.1%] or IGT in 7 cases [13%] and normal glucose tolerance [NGT] was in 41 patients [75.9%]. Cases with AGT had significant higher mean postprandial insulin, FIRI and HOMA insulin resistance [IR], p=0.0001 for all, and significant lower mean HOMA beta-cell, p=0.007 if compared to the cases with NGT. By stepwise logistic regression analysis, the total blood taken per year was the independent risk factor for abnormal glucose tolerance, OR=0.49, p=0.03. Serum ferritin was higher in cases with AGT compared to cases with NGT, p= 0.04 and it correlated with fasting insulin level, FIRI and HOMA IR, p=0,003,0.001, 0.001 and r=0.4, 0.5, 0.5 respectively. Chronic hepatitis C was detected in 12 patients [92.3%] with AGT. Abnormal glucose tolerance is common in multi-transfused beta-thalassemia patients, which could be attributed to impaired beta-cell function, along with insulin resistance

Study of direct and indirect tests of vasopressin function in diagnosis of diabetes insipidus

This study was conducted on 16 patients with diabetes insipidus [DI]. Direct and indirect tests of vasopressin function were performed for the patients and compared with ten matched control subjects. The study showed that the standard indirect test was enough for diagnosis of DI when present in its severe, complete and classic form. Yet, the need for plasma AVP assay becomes necessary to differentiate between the types of DI when present in partial or incomplete form due to the extensive overlap values obtained by the standard indirect test