ABSTRACT
Background: Rheumatoid arthritis is a heterogenous autoimmune disorder of unknown cause with variable clinical expression. Genetic factors play an important role and likely account for about 60% of disease susceptibility and expression. The aim of this study to find out the association of CRP haplotypes in rheumatoid arthritis and their correlation with severity of the disease. Material and Methods: This was case control study where in all available patients and volunteers (only for blood samples) were recruited. Peripheral blood samples of patients were collected at Rheumatology Clinic and Medicine Department of S.P. Medical College, Bikaner in collaboration with Department of Biological Sciences, BITS, Pilani-Hyderabad during July 2009 to January 2012. 100 control subjects with no known history of disease and 135 cases were recruited as per pre-decided inclusion and exclusion criteria. A tag SNP approach captured common variation at the CRP locus and the relationship between genotype and serum CRP was explored by linear modelling. Results: Cases comprised of 98 females (Mean age 43.01+13.23 yrs) and 37 (mean age 47.4+14.9 years) males. The Control group comprised of 100 unrelated healthy controls. The cases and controls did not differ significantly for any of the clinical parameters, except for serum CRP levels. The allele distribution of rs1205 polymorphism among the studied cases and controls, which was statistical non-significant. The rs3093066 polymorphism located at the 3` position of the gene in the UTR at position number 157949723. The rs3116640 polymorphism located at 157948938 position on chromosome1 and the allele distribution of rs3116637 polymorphism among cases and controls which was also found to be monomorphic respectively. Conclusion: Extending the studies to a larger cohort will also allow genetic analyses of clinically defined endophenotypes observed in the patients of this chronic metabolic disease with attributes of autoimmune disorder and multiple symptoms in patients. Genetic studies can also impact strategies adopted for effective personalized treatment for this progressively debilitating disease.
ABSTRACT
Background: Fever remains the most enigmatic clinicalsymptom to treat. The differential diagnosis of Fever ofunknown origin is the most wide-ranging in medicine. Hence;the present study was conducted for assessing the patientswith Undiagnosed Fever in a Known Population.Materials & Methods: A total of 85 patients with undiagnosedfever were enrolled in the present study. Thorough clinicalexamination of all the patients was carried out. Blood sampleswere obtained from all the patients and routine investigationswere carried out. Patients remaining undiagnosed after thatwere referred to higher centers. All the results were recorded inMicrosoft excel sheet and were analysed by SPSS software.Chi- square test was used to assess the level of significance.Results: In all these patients, final diagnosis was establishedbased on haematological and clinical examination. Finaldiagnosis was found to be infectious in 49.41 percent of thecases, while it was found to be inflammatory (non-infectious) in16.47 percent of the cases. Haematological pathology wasfound to be present in 12.94 percent of the cases.Undiagnosed cases were found to be 5 in number.Conclusion: Undiagnosed fever might occur in such variablepathologies as infections, malignancy and drug effect and dueto environmental toxicity. Even after intensive search, theetiology of a sizeable proportion of fevers remains unclear.
ABSTRACT
Cyanosis due to right to left shunt across an atrial septal defect (ASD) brings up lots of questions in an inquisitive mind! Systemic desaturation at rest or during exercise can limit physical ability and impair the quality of life of patients with congenital heart defect (CHD). Traditionally, ASD is taught as an acyanotic CHD, but we encountered a child with a different clinical presentation. Understanding the mechanism of early onset systemic desaturation in the presence of an ASD is vital for surgical planning and decision-making. A comprehensive TEE examination always compliments clinical and haemodynamic data for an aetiology based patient management. This brief clinical communication attempts to discuss the role of perioperative TEE examinations in a case of ASD with central cyanosis.
ABSTRACT
Quadricuspid aortic valve (QAV) is a rare congenital anomaly frequently associated with other anomalies particularly coronary anomalies. It may be detected on transthoracic or transesophageal echocardiography. We present here a case report of a 27-year-old male patient with a QAV, the valve being regurgitant and requiring aortic valve replacement. It has been reported as isolated case reports in the literature and various theories exist to the development of QAV. The diagnosis requires a high degree of suspicion and a detailed assessment, and if asymptomatic, then patients need to be carefully followed up for the development of aortic regurgitation.