Cardiovascular risk score in Rheumatoid Arthritis

Objective: To determine the 10-year Cardiovascular risk score with QRISK-2 and Framingham risk calculators in Rheumatoid Arthritis and Non Rheumatoid Arthritis subjects and asses the usefulness of QRISK-2 and Framingham calculators in both groups

Methods: During the study 106 RA and 106 Non RA patients age and sex matched participants were enrolled from outpatient department. Demographic data and questions regarding other study parameters were noted. After 14 hours of fasting 5 ml of venous blood was drawn for Cholesterol and HDL levels, laboratory tests were performed on COBAS c III [ROCHE]. QRISK-2 and Framingham risk calculators were used to get individual 10-year CVD risk score

Results: In this study the mean age of RA group was [45.1 +/- 9.5] for Non RA group [43.7 +/- 8.2], with female gender as common. The mean predicted 10-year score with QRISK-2 calculator in RA group [14.2 +/- 17.1%] and Non RA group was [13.2 +/- 19.0%] with [p-value 0.122]. The 10-year score with Framingham risk score in RA group was [12.9 +/- 10.4%] and Non RA group was [8.9 +/- 8.7%] with [p-value 0.001]. In RA group QRISK-2 [24.5%] and FRS [31.1%] cases with predicted score were in higher risk category. The maximum agreement scores between both calculators was observed in both groups [Kappa=0.618 RA Group; Kappa=0.671 Non RA Group]

Conclusion: QRISK-2 calculator is more appropriate as it takes RA, ethnicity, CKD, and Atrial fibrillation as factors in risk assessment score

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar.

Families with at least 2 or more individuals having hereditary hearing loss were enrolled from different areas of Khyber Pakhtoonkhwa, mainly from district Peshawar. Detailed history was taken from each family to minimize the presence of other abnormalities and environmental causes for deafness. Families were questioned about skin pigmentation, hair pigmentation, and problems relating to balance, vision, night blindness, thyroid, kidneys, heart, and infectious diseases like meningitis, antibiotic usage, injury, and typhoid. The pedigree structures were based upon interviews with multiple family members, and pedigrees of the enrolled families were drawn using Cyrillic program (version 2.1). All families showed recessive mode of inheritance. I studied 8 families of these 10. For linkage analyses, studies for DFNB1 locus, 3 STR markers (D13S175, D13S292, and D13S787) were genotyped using polyacrylamide gel electrophoresis (PAGE) and haplotypes were constructed to determined, linkage with DFNB1 locus. From a total of 8 families, a single family-10 showed linkage to DFNB1 locus.

Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis.

The present study was carried out to determine the prevalence of families having mental retardation in Pakistani population. We enrolled seven mentally retarded (MR) families with two or more affected individuals. Family history was taken to minimize the chances of other abnormalities. Pedigrees were drawn using the Cyrillic software (version 2.1). The structure of pedigrees shows that all the marriages are consanguineous and the families have recessive mode of inheritance. All the families were studied by linkage analysis to mental retardation locus (MRT1)/gene PRSS12. Three STR markers (D4S191, D4S2392, and D4S3024) in vicinity of mental retardation (MR) locus (MRT1)/gene PRSS12 were amplified on all the sample of each family by PCR. The PCR products were then genotyped on non denaturing polyacrylamide gel electrophoresis (PAGE). The Haplotype were constructed to determine the pattern of inheritance and also to determine that a family was linked or unlinked to gene PRSS12. One out of the seven families was potentially linked to gene PRSS12, while the other six families remain unlinked.

Epithelioid haemangioendothelioma of the palate

Epithelioid Haemangioendothelioma [EHE] is an uncommon malignant vascular neoplasm that can develop at any anatomical site. In our report we describe a case of oral Epithelioid Haemangioendothelioma. A 13 years old male boy presented in the Oral Surgery Department of Armed Forces Institute of Dentistry with a growth in the left hard palate for the past 3 weeks. The growth was removed surgically and the specimen was sent to the Histopathology department of Armed Forces Institute of Pathology. On the basis of morphological features it was diagnosed as Epithelioid Haemangioendothelioma of the palate