Progression pattern of rheumatoid arthritis: a study of 500 Pakistani patients

To estimate the most prevalent age of patients and disease status and progression in terms of severity at different age groups in the Pakistani Rheumatoid Arthritis [RA] patients. A total of five hundred [500] RA patients were enrolled during October, 2009 to October, 2013. A screening questionnaire was filled for each patient satisfying America College of Rheumatology [ACR] criteria under the supervision of certified rheumatologists. Epidemiological and demographic variables were statistically analyzed for correlation with progression of the disease using SPSS ver 17.0.1 software. In general, rheumatoid arthritis preferentially affects women with female to male ratio of about 3:1; however, patients with above 60 years of age have equal female to male ratio. The most prevalent age is 45-60 years. The disease severity increases with increase in the age and reaches to its peak in above 60 years of age [p=0.001]. The pattern of progression of RA in the Pakistani patients is almost consistent with other relevant studies conducted on European and European derived populations

Rheumatoid arthritis: what have we learned about the causing factors?

Rheumatoid Arthritis [RA] is a common inflammatory autoimmune disease characterized by the synovitis of both small and large joints, which may lead to the destruction of cartilage and bones causing significant disabilities due to erosion of bones surfaces, if left untreated. It is a multifactorial and heterogeneous disease having contribution of both genetic [50-60%] and environmental factors. The unawareness of general public might be a contributing factor in the high prevalence rate of RA world-wide. This review article focuses on the causing factors [genetics and environmental] involved in this devastating disease. We also gave brief overview of the treatment options and animal models of RA. The literature was reviewed using mesh terms in PubMed search "etiology of RA, genetics of RA, environmental factors in RA, Genome Wide Association Studies [GWAS] in RA". The data was thoroughly reviewed and comprehensive information was extracted to help the readers in improving understanding towards the mechanisms, which trigger the outcomes of RA. The more we increase awareness about RA, the better we manage this disease and hence can improve life style and socio-economic status

Pharmacogenomics of type 2 diabetes mellitus: a step toward personalized medicine

Type 2 diabetes is a complex multifactorial disease characterized by insufficient insulin secretion and insulin resistance. Global prevalence of diabetes is increasing day by day making diabetes a global epidemic. Various factors increase risk of diabetes and genetic predisposition is one of vary important factor. Many anti- diabetic treatments are available to control blood glucose levels in diabetic patients. Now-a-days initially, oral antidiabetic treatment is successful but it fails later on and requires insulin administration and there are large numbers of non responders also. Even patients that do respond show variability in drug response and tolerance. Pharmacogenomics is the study to determine the inter-individual differences that contribute toward drug response. Many studied have shown positive contribution of different polymorphism in alteration of drug response in various ethnicities but still data related to pharmacogenomics of asian population is limited. In this review, we have tried to summarize the genetic variations and their effect on 3 major classes of oral antidiabetic medications that include thiazolidinediones, metformin and sulfonylureas

RANKL signaling pathway: a potential target for antiresorptive therapy in Rheumatoid Arthritis

Rheumatoid arthritis [RA] is a chronic polyarthritic autoimmunity condition characterized by severe bone irosion. Osteoclasts, the bone resorbing cells, are overly produced from the synovial inflammatory tissues in RA leading to excessive bone loss. RANKL-signaling pathway has been established to be the major pathway involved in osteclastogenesis. This review highlight the rule of around 40 osteclastogenic factors involved in RANKL-signaling their potential to be targeted for antiresorptiv potential, have been reviewed. Elucidating new potential candidate therapeutic targets in the osteoclastogenesis pathway will open new avenues into the treatment and diagnosis of the arthritic conditions

Signaling pathway involved in Rheumatoid Arthritis: target for new therapeutic interventions

Rheumatoid arthritis is categorized as a systematic autoimmune disease which causes chronic disabilities exclusively in bones that are aligned with synovium. RA etiology is still unknown but previous studies have coined that several number of factors play a significant role e.g. environmental and genetic factors. Cellular signaling pathways orchestrate the inflammatory response that regulates various cellular functions like cellular progression, proliferation, death and secretion of signaling molecules [pro and anti inflammatory cytokines] in response to genetic and environmental stimuli. These regulatory pathways are tightly controlled and naturally activated by ligands that attach to their respective receptors on the cell surface. In diseased state, these signaling pathways escape the normal control mechanisms resulting in intensification of cytokines and chemokines, transcription factors and mediatory proteins that disrupt normal cell processes and might bring about auto-destructive consequences such as in the case of rheumatoid arthritis. The review highlights multiple levels of targeting molecules in signaling pathways that may be potential diagnostic markers and also attempts to underline potential therapeutic targets

Frequency of chromosomal anomalies in mentally handicapped children

To assess the demographic pattern, karyotype and other systemic anomalies in children with mental retardation [MR] and correlate them with socioeconomic status, consanguinity and maternal education. A cross sectional descriptive study of one year [Nov 2006- Nov 2007]. Children with mental retardation were selected from the schools of Special Education, Nasheman Institute of Handicapped Children, Schools of Special education, Chambeli Institute of Mentally retarded children. The study included 100 children with various phenotypic abnormalities suggestive of a mental retardation or congenital malformations. All cases were subjected to physical examination and family history was taken on specially designed Performa. Informed Consent was obtained from parents and Principal of schools. Chromosomal analysis was performed by lymphocyte culture from peripheral blood followed by Karyotype and G-banding. One hundred cases aged 4-16 years were selected; of which 61% were males and 39% females. Low socioeconomic status [80%], lack of maternal education [46%] and consanguinity [61%] were strongly associated with retardation. Other independent factors included history of perinatal difficulties [46%], prenatal infections [49%], natal [04%] and postnatal infections [17%] and current malnourishment. Of those remaining, prenatal factors [49%] were implicated about twice as often as natal or postnatal factors. The etiology in 30% cases was unknown. About 40% mothers were between 26-32 years of age, 15% were older than 35 years of age, while remaining 24% were less than 25 years of age at the time of birth of the affected child. The karyotype analysis showed Down syndrome in 41% and Turner syndrome in 1%. Out of the total 41% cases had trisomy 21, while others were normal [59%]. The identification of specific types of chromosomal abnormalities in mentally retarded children is important as it enables clinicians to counsel the parents regarding recurrence risk and available options

Access to water quality and functioning sewerage system of internally displaced person's camps in NWFP

Environmental health survey was done on water and sanitation issues, at 43 Internally Displaced Person's Camps [IDP] of the NWFP province after 8[th] October 2005 earthquake in Pakistan. To describe the challenges/situation faced by healthcare providers in providing safe drinking water and sanitation with the objective to restore these in the shortest time. Cross sectional observational survey was done of the IDP camps in NWFP from November, 2005 to April, 2006. A total of 43 camps were visited twice a week. All information was recorded in structured questionnaire, edited and analyzed through SPSS version 10. A total of 43 IDP camps were visited. Using WHO standards for assessment of quality of drinking water, it was found that water quality of 35 camps was satisfactory and of 07 was unsatisfactory while one of them had turbid appearance. Spring water was the main source of water supply in these camps. Twenty-one out of 43 camps had 485 flush latrines and 20 camps had 707 pit latrines. Out of 43 camps, 36 camps had specific latrines for women while others did not have specific latrines for women. Bath facilities were limited