Overlap syndrome indicates the coexistence of 2 or more autoimmune liver diseases in the same individual, occurring simultaneously or sequentially. Cases of overlap of autoimmune hepatitis (AIH) with primary biliary cholangitis (PBC) and of AIH with primary sclerosing cholangitis (PSC) are known and have defined criteria for diagnosis. Overlap between PBC and PSC has been reported in only a few case reports. The cause for the rarity of this entity compared to other overlap syndromes is unclear. We present a case of an overlap syndrome of PBC with PSC in a 35-year-old woman.
Lupus cystitis is a rare complication of systemic lupus erythematosus (SLE) and occurs in association with gastrointestinal symptoms. This rare disorder has been reported mainly from Japan. We report a 20 year old female who diagnosed as having SLE associated with paralytic ileus and chronic interstitial cystitis. Treatment with intravenous methylprednisolone, cyclophosphamide pulse therapy followed by oral prednisolone and azathioprine led to amelioration of manifestations. Later she developed lupus nephritis which was treated with mycophenolate mofetil.
A recent association scan using a genome-wide set of nonsynonymous coding single-nucleotide polymorphisms (nsSNPs) conducted in four diseases including Graves' disease (GD), identified nine novel possible regions of association with GD. We used a case-control approach in an attempt to replicate association of these nine regions in an independent collection of 1578 British GD patients and 1946 matched Caucasian controls. Although none of these loci showed evidence of association with GD in the independent data set, when combined with the original Wellcome Trust Case-Control Consortium study group, minor differences in allele frequencies (PX10 À3 ) remained in the combined collection of 5924 subjects for four of the nsSNPs, present within HDLBP, TEKT1, JSRP1 and UTX. An additional 29 Tag SNPs were screened within these four gene regions to determine if further associations could be detected. Similarly, minor differences only (P¼0.042-0.002) were detected in two HDLBP and two TEKT1 Tag SNPs in the combined UK GD collection. In conclusion, it is unlikely that the SNPs selected in this replication study have a significant effect on the risk of GD in the United Kingdom. Our study confirms the need for large data sets and stringent analysis criteria when searching for susceptibility loci in common diseases.
Aims of this study was to determine the relationship between diabetes and cognitive impairment is respect of the age of onset and duration of diabetes, other complication of diabetes mellitus and effect of short term glycemic control on cognitive impairment. In the clinical study 50 diabetic patients were examined clinically for evidence of cognitive dysfunction by "Kolkata Cognitive Screening Battery". The scores were compared with the normative data on global cognitive functioning in a population within an urban Indian context. Those having cognitive impairment, follow up was done for six months with adequate anti-diabetic drugs to control their blood sugar strictly (HbA1C <7%). Those who had adequate blood sugar control were again interviewed similarly. The scores were compared with previous values. Results show that cognitive dysfunction was associated with diabetes. Recognition, fluency and immediate memory were most commonly affected. Calculation was least affected. No significant correlation found between cognitive decline with either duration or age of onset of diabetes. The cognitive decline appeared to be reversible as improvement of some mental faculties after strict blood sugar control. In conclusion we have found that cognitive decline was associated with diabetes but not directly related to the duration and age of onset of diabetes. On the other hand, control of diabetes lead to improvement of cognitive function.
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