Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients.

Rheumatoid arthritis (RA) is a chronic auto-inflammatory disease of connective tissue with progressive joint damage and systemic disorders. RA is considered a multifactorial disease triggered by a genetic predisposition and environmental factors. Polymorphisms have been identified in the Xq28 locus as risk loci for RA. The aim of study was to assess the association between two polymorphisms in the Xq28 region containing Transmembrane Protein 187 (TMEM187) gene (rs13397) and interleukin1 receptor associated kinase (IRAK1) gene (rs1059703) with the disease susceptibility and activity in Egyptian RA patients. This study was conducted on 100 RA patients and 100 age and sex matched normal controls, together were recruited from the Rheumatology Department, Beni-Suef University Hospital. We detected TMEM187 (rs13397) and IRAK1 (rs1059703) gene polymorphisms using the real time PCR TaqMan allelic discrimination assays. We found that the frequency of the major genotypes (GG) of TMEM 187 gene was higher in RA group (54%) compared to controls (50%); while the minor genotypes (AA) was higher in the control group (22%) compared to the diseased one (18%), but such differences did not reach statistical significance (p=0.599). Regarding the IRAK1 gene, we revealed that the frequency of the major genotypes (AA) of the rs1059703 was slightly higher in RA group (48%) compared to controls (46%); while the minor genotypes (GG) was the same in both groups (26%). However, there was higher incidence of minor genotype in the TMEM187 and IRAK1 genes in males; with a statistical significance (p=0.004 and 0.015, respectively). We concluded that the major allele G of TMEM187(rs 13397) could be considered as a risk genetic allele for RA in Egyptian populations.

The effect of pH on the rheological and physical properties of analogue pizza cheese.

This study aimed to evaluate the effect of the pH levels (5.8, 6.0, 6.2, and 6.4) on analogue pizza cheese (APC) rheological and physical characteristics. The APC formulation included 25% vegetable oil and 18.5% rennet casein. The APC samples were made using a Thermomix device and the cheese was stored at + 5 °C for 5 days before it was transferred to - 18 °C. Rotational rheometer measurements showed that all samples followed Herchel-Buckley viscoplastic Model with a different yield stress, highest apparent viscosity, and shear stress values were obtained at pH 6.4 followed by pH 6.2; then the values were dropped by 70%. Melting and stretching showed the best characteristics for the APC sample at pH 6.4, whereas at pH 6.0 stretching values decreased by 77%. The APC samples at pH ≥ 6.2 showed better stability after 6 months of frozen storage in the apparent viscosity than other cheeses. This study concluded that better rheological and physical properties were obtained for the APC at pH ≥ 6.20 and that significant variation for the rheological behavior of the APC can be based on the pH alone, as a slight alteration in the pH was found to affect product quality and acceptability.

Comparative study of His- and Non-His-tagged CLIC proteins, reveals changes in their enzymatic activity.

The chloride intracellular ion channel protein (CLIC) family are a unique set of ion channels that can exist as soluble and integral membrane proteins. New evidence has emerged that demonstrates CLICs' possess oxidoreductase enzymatic activity and may function as either membrane-spanning ion channels or as globular enzymes. To further characterize the enzymatic profile of members of the CLIC family and to expand our understanding of their functions, we expressed and purified recombinant CLIC1, CLIC3, and a non-functional CLIC1-Cys24A mutant using a Histidine tag, bacterial protein expression system. We demonstrate that the presence of the six-polyhistidine tag at the amino terminus of the proteins led to a decrease in their oxidoreductase enzymatic activity compared to their non-His-tagged counterparts, when assessed using 2-hydroxyethyl disulfide as a substrate. These results strongly suggest the six-polyhistidine tag alters CLIC's structure at the N-terminus, which also contains the enzyme active site. It also raises the need for caution in use of His-tagged proteins when assessing oxidoreductase protein enzymatic function.

Frontal Bone Infarctions Masquerading as Bilateral Orbital Cellulitis in a Patient with Sickle Cell Disease.

Repeated vaso-occlusive crises (VOCs) are the hallmark of sickle cell disease (SCD). These repeated crises can lead to bone infarcts, necrosis, and, over time, degenerative changes in the bone marrow. Orbital complications in SCD patients are infrequent and usually present as orbital cellulitis. We report the appearance of orbital bone infarction intraoperatively in the case of an 18-year-old Saudi male patient who has been diagnosed with SCD and presented with severe headaches and generalized body aches. He was admitted with a case of SCD with acute VOC and started on the hospital sickle cell protocol. During the admission, the patient developed bilateral periorbital swelling and left inferior dystopia secondary to bilateral frontoparietal bone infarction, which was evident on the magnetic resonance imaging.

Study of Vitamin D Level and Vitamin D Receptor Polymorphism in Hypothyroid Egyptian Patients.

PURPOSE: The current study aimed at assessing vitamin D level and vitamin D receptor polymorphism in hypothyroid Egyptian patients and its effect on hypothyroidism and thyroid morphology, also to find a causal relation between vitamin D and hypothyroidism. METHODS: This case-control study was conducted on 35 hypothyroid patients and 35 matched unrelated healthy controls. Total serum 25-hydroxyvitamin D3 and thyroid antibodies were measured using a human ELISA kit. Genotyping was performed by using real-time PCR. HOMA-IR was also calculated (fasting insulin in mIU/L × fasting glucose in mg/dL/405). All subjects were assessed for thyroid morphology by thyroid ultrasonography. RESULTS: Vitamin D level was lower in hypothyroid patients than in control subjects. Vitamin D was also inversely related to TSH, HOMA-IR, and levels of anti-TG and anti-TPO. VDR polymorphism (Fok1 and Apa1) had no relation to TSH or vitamin D levels in both patients and control groups. Low vitamin D levels were associated with increased thyroid vascularity and nodularity; furthermore, vitamin D was inversely proportional to thyroid gland volume. Correlation of HOMA-IR with the levels of both anti-TG and anti-TPO in the 70 subjects proved that HOMA-IR was positively correlated to both antibodies. CONCLUSION: This study confirmed the association of vitamin D deficiency with hypothyroidism, thyroid autoimmunity, increased volume, nodularity, and vascularity of thyroid gland in hypothyroid patients as well as increased HOMA-IR. It proved the association between HOMA-IR and thyroid autoimmunity. The study proved no association between VDR polymorphisms (Fok1 and Apa1) with either vitamin D levels or TSH levels.

Diabetes Mellitus, Nonalcoholic Fatty Liver Disease, and Conjugated Linoleic Acid (Omega 6): What Is the Link?

BACKGROUND AND OBJECTIVE: Type 2 DM and obesity are the coming epidemics and their association with NAFLD is well established; essential fatty acids are vital for body health yet the body cannot make them; 2 essential fatty acids are especially important: linoleic (omega-6) and alpha-linoleic (omega-3) acids; they can be considered as "bioactive lipids" and serve as functional foods. METHODS: 50 type 2 Egyptian diabetic patients controlled on oral hypoglycemic drugs together with 20 age- and sex-matched healthy participants were enrolled in the study; all were subjected to complete history taking, BMI, fasting plasma glucose, HOMA-IR, ALT, AST, GGT, urea and creatinine, total lipid profile, hepatitis markers including hepatitis B surface antigen and hepatitis C virus antibodies, conjugated linoleic fatty acid "CLA," and abdominal ultrasound for grading of NAFLD. RESULTS: Our study in Egyptian diabetics with NAFLD revealed a low level of serum CLA compared to healthy control; such deficiency was more marked with advanced grades of NAFLD; lowest levels were observed in those with severe steatosis (NASH) with definite association between CLA and obesity. CONCLUSION: Insulin resistance is the main link between NAFLD, diabetes, and obesity. Conjugated linoleic acid (CLA) has a role in fat deposition in the liver and in development and improvement of insulin resistance. Fatty food had a documented role in the pathogenesis of obesity and diabetes but it can also be the cure.

A randomized controlled clinical trial of 4% sodium citrate versus heparin as locking solution for temporary dialysis catheters among hemodialysis patients
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BACKGROUND: Limited reports are available on the role of 4% citrate as a locking solution for temporary dialysis catheters. Hence, the aim of this study is to investigate the role of 4% citrate vs. heparin 5,000 µ/mL as a catheter-locking solution in a randomized controlled trial. MATERIALS AND METHODS: The trial was conducted in Egypt where the use of non-tunneled temporary catheters is prevalent compared to tunneled long-term catheters. The efficacy of catheter-locking solutions was compared regarding observation of rate of catheter dysfunction, low-flow pump, fever as a sign of central-line blood-stream infection (CLBSI), catheter-site infection, thrombosis, local bleeding, and systemic bleeding in each group of the study. RESULTS: Each group consisted of 105 patients. The number of patients who developed CLBSI in the citrate group was 11 (10.5%) compared to 23 (21.9%) in the heparin group (p < 0.025). The number of patients who developed catheter dysfunction in the citrate group was similar to those in the heparin group. The incidence of catheter-site infection, thrombosis, and local bleeding in the citrate group was similar to that in the heparin group. CONCLUSION: Citrate 4% lock solution is equally effective as heparin in maintaining catheter patency in dialysis patients. It may have a favorable effect on prevention of catheter-related infection due to its additional antiseptic properties as compared to heparin. Citrate-based locking solutions are a promising alternative to unfractionated heparin as a locking solution for dialysis catheters.
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Validity of self-reported vitamin D deficiency among midlife Arab women living in Qatar.

OBJECTIVES: This study evaluates the level of agreement between self-reported vitamin D deficiency and serum vitamin D measured within the previous calendar year. METHODS: In a study in which serum 25(OH)D levels were retrieved from electronic health records, 523 women were asked whether they considered themselves to have vitamin D deficiency. Serum vitamin D levels were categorized as vitamin D deficiency if serum 25(OH)D was <20 ng/ml and as insufficiency if <30 ng/ml. The kappa statistic was computed to assess the level of agreement between serum 25(OH)D level and self-report responses. RESULTS: Agreement between self-reported and measured 25(OH)D levels was poor. The kappa statistic was -0.041 when using a cutpoint of <20 ng/ml and -0.008 using the cutpoint of <30 ng/ml. Among women with levels ≥20 ng/ml, 82.4% believed that they were vitamin D deficient, while 13.3% who were below <20 ng/ml did not self-report deficiency. Among women who did not report vitamin D deficiency, 46.3% (37/80) had levels <20 ng/ml while 82.5% (66/80) had levels <30 ng/ml. CONCLUSIONS: These findings suggest that, although the prevalence of 25(OH)D <20 and <30 ng/ml was quite high (53.2% and 84.7%, respectively), there was little agreement between measured levels and self-report of vitamin D deficiency. This may be due to belief in this region that low levels of serum vitamin D is widespread. Better communication is needed between healthcare providers and patients regarding transmission of laboratory results.

Acute spontaneous extraconal hematic cyst of the orbit.

A 49 year old man presented with one day history of mild right eye pain and proptosis. There was no definite history of trauma. On examination there was limitation of movement in all directions of gaze and 6 mm proptosis of his right eye. CT scan showed extraconal lesion compressing the optic nerve and inferior rectus muscle. Right inferior conjunctival fornix based approach was performed with lateral canthotomy and inferior cantholysis and exploration revealed a cyst containing blood which was removed.