Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.

INTRODUCTION: Vitamin D works by binding to vitamin D receptor (VDR). The muscle involvement in hypovitaminosis D was broadly named osteomalacic myopathy. METHODS: A case control study involved 20 female patients diagnosed with osteomalacic myopathy compared with 15 age-matched healthy female controls. We assessed both for VDR genotype single-nucleotide polymorphisms (SNP) at 3 sites (ApaI, BsmI, and FokI). RESULTS: ApaI and BsmI genotypes distribution in both groups showed non-significant difference unlike FokI genotypes in which we found significantly higher percentages of single allele mutation in patients vs. controls. CONCLUSION: The relation of VDR gene SNPs to muscle function was studied before but in healthy subjects. We tried to correlate if presence/absence of a certain mutation is responsible for the appearance of osteomalacic myopathy.

Validity of skeletal muscle ultrasound as a screening tool in the assessment of patients with suspected limb-girdle muscular dystrophy.

This cross-sectional study measured the sensitivity and specificity of muscle ultrasound (MUS) in the assessment of patients with suspected limb-girdle muscular dystrophy (LGMD). Sixty patients with suspected LGMD from the Neuromuscular Unit, Myology Clinic, Ain Shams University Hospital, Cairo, Egypt, and a series of healthy subjects were included. The patients underwent real-time B-mode ultrasonography performed using a General Electric ultrasound machine (GE Logiq P7) and a General Electric 7.5 MHz linear array ultrasound probe (USA). All images were obtained and scored by a single examiner, and muscle echo intensity was visually graded semiquantitatively using Heckmatt's scale. The examiner was blinded to the clinical evaluations and patients' investigations. Statistical analysis using receiver operating characteristic (ROC) curve analysis revealed that the total upper-limb (UL) Heckmatt's US score at a cutoff point >1 predicted patients with dystrophy, with good (88%) accuracy and with sensitivity and specificity of 100% and 75%, respectively (p < 0.01). Moreover, the total lower-limbs (LL) Heckmatt's US score at a cutoff point >1 predicted patients with dystrophy, with excellent (91%) accuracy and with sensitivity and specificity of 100% and 75%, respectively (p < 0.01). Finally, the total Heckmatt's US score at a cutoff point >2 predicted patients with dystrophy, with good (89%) accuracy and with sensitivity and specificity of 100% and 75%, respectively (p < 0.01). Thus, MUS can be considered a valid screening tool in the assessment of patients with suspected LGMD.

Borderzone Infarction and Small Vessel Disease in a Sample of Egyptian Stroke Patients: Differences and Similarities.

BACKGROUND: The anatomical location of white matter hyperintense lesions in small vessel disease are apparently similar to those of borderzone infarction. The objective of this study is to find clinical and radiological points of differentiation between the two vascular disorders in a sample of Egyptian patients which might have an impact on primary and secondary prevention. METHODS: Ischemic stroke patients with white matter lesions were categorized into two groups: small vessel disease and borderzone infarctions. NIHSS was done on admission. Risk factor profile was reported, and investigations done including: HbA1C, lipid profile, CRP, ECG, echocardiography, carotid duplex, brain MRI, MRA and MR perfusion study. RESULTS: 46 patients completed the study, 29 with SVD and 17 with BZI. Smoking, hypertension and recurrent stroke were more common in borderzone infarctions, but only diabetes was significantly higher (p = 0.047). Limb shaking was more observed in borderzone infarctions (p = 0.049). Radiologically: lacunar pattern was observed more in small vessel disease, while rosary pattern was more in borderzone infarctions (p = 0.04). FLAIR symmetrical lesions and microbleeds were more significant in small vessel disease (p = <0.001; 0.048, respectively). Perfusion study time to peak denoted evidence of significant hypoperfusion in all regions of interest in borderzone infarctions. CONCLUSION: Limb shaking, retinal claudication or syncope, with MRI showing rosary pattern of white matter hyperintensity, few microbleeds and markedly impaired perfusion favor the diagnosis of borderzone infarctions. On the other hand, presence of lacunae, FLAIR showing symmetrical WMH and microbleeds with minimal or no perfusion deficit suggests the diagnosis of small vessel disease.