Wilson’s disease is one the rare autosomal recessive disorders of copper metabolism due to mutation in ATP7B gene located in chromosome 13. The mutations of this gene cause accumulation of copper in different tissues such as brain, liver, and eyes. The clinical presentation usually reflects this tissue distribution and varies from asymptomatic patients to those with hepatic or neuro-psychiatric manifestations. Here, we report an interesting case of Wilson’s disease which presented with mild persistent hemolysis leading to pre hepatic and post hepatic jaundice. He also had hepatocellular jaundice due to liver injury.
Background: It is well recognized that chronic kidney disease (CKD), if left, untreated would slowly progress to end-stage renal disease (ESRD)., A targeted approach is to enhance the knowledge of CKD among the public, especially in high risk population, and encourage them to practice a healthy attitude and practice that may help in early detection and thereby better management of CKD. Such a study to assess the baseline data has not been done in India. Aims and Objectives: To inculcate the knowledge attitude and practice towards prevention and early detection of CKD among high risk patients attending a tertiary care centre. This Observational study was carried out on all patients with diabetes and/or hypertension attending General medicine out-patient or in-patient in a given period of time. Patients more than 18 years of age with diabetes and/or hypertension were included while patients with chronic kidney disease were excluded. Methodology: A standard questionnaire obtained from an author of similar study is given to patients fulfilling the inclusion criteria. Is this National Kidney Foundation's Kidney Disease Outcome Quality Initiative (KDOQI)? If so mention it.
Systemic Lupus Erythematosus (SLE) and Rheumatoid Arthritis (RA) are characterised by two distinct immunopathological activities, the T-helper 2 cells play a vital role in pathogenesis of SLE while T-helper 1 cells play an important role in RA. Organ involvement in Rhupus syndrome is relatively rare. Here, authors present a case of 59-year-old female who came with complaints of multiple joint pain (involving small and large joints) for a year and dyspnoea for 6 months without co-morbidities, on examination she had pallor, impaired percussion note and velcro crepitations in bilateral infrascapular region, her Pulmonary function test revealed a restrictive pattern and High-Resolution CT (HRCT) chest revealed sub-pleural reticulations involving lower lobes, she was diagnosed as RA with Interstitial Lung Disease (ILD) and started on hydroxycholoroquine, sulfasalazine and prednisolone. During follow-up after 6 months she developed a hyperpigmented rash over cheeks and bridge of nose, non-painful oral ulcers with Anti-Nuclear Antibodies (ANA) showing speckled positivity and Extractable Nuclear Antigen (ENA) panel showing positive anti-ds DNA and negative anti-histone, here with, we present a case of Rhupus syndrome presented with ILD. Recognising this condition is important as treatment varies between Rhupus syndrome and SLE or RA.
Background: Chronic lymphocytic thyroiditis is a thyroid specific autoimmune disease often seen in middle aged women, although rarely do occur in men, children1. This disease is characterized by antibody directed against thyroid peroxidase, called antimicrosomal antibody. The present study was undertaken to evaluate the various cytological features occurring in HT and to correlate with clinical and serological findings. Methods: The study was conducted in department of Pathology from May 2017 to August 2017. The cases diagnosed as HT by FNAC were taken up for the study. Cytomorphologic features were reviewed microscopically and graded as per Bhatia et al. Result: Fifty cases were diagnosed as lymphocytic thyroiditis. Age of the patient ranged from 7-56 years. Clinically 41 of 50 cases (82%) presented with diffuse thyroid enlargement. In our study we had 31 cases (62 %) of grade 2 thyroiditis, 15 and 4 cases each of grade 1 and grade 3 respectively. We observed increased TSH values in 100% of G3 thyroiditis and 64.5% of G2 thyroiditis. None of the Grade 1 thyroiditis had increased TSH levels. The statistical correlation between grades of thyroiditis with T3, T4 and TSH levels was found to be significant with p values < 0.05. Conclusion: FNAC is simple cost effective and quick method for diagnosing HT. Also combined evaluation of HT with clinical findings and thyroid profile promotes more accurate diagnosis and early institution of therapy and follow up. FNAC is also necessary to rule out malignant lesions like lymphoma and papillary carcinoma at preliminary cytological level.
Background: Cardiovascular diseases (CVD) is a major global health burden that results in the greatest number of deaths worldwide. Epigenetic changes induced by pregnancy related complication in umbilical cord blood may appear as a result of dysfunctional placenta and impaired maternal cardiovascular function and may cause later onset of cardiovascular diseases in offspring.Methods: A prospective case control study was conducted at ESIC medical college, Bangalore in 100 PIH women with gestational age 37 to 40 weeks. The study aimed to find the correlation of cord blood uric acid, lipid profile and HOMA -IR in gestational hypertension mothers.Results: We found a strong positive correlation between uric acid and total cholesterol in cases and a moderate positive correlation among uric acid and LDL in cases whereas a strong negative correlation among uric acid and HDL. In addition, mean HOMA-IR value was statistically significant in cases.Conclusions: HOMA -IR values are found to be more in newborns of PIH mothers and cord blood uric acid is a good predictor of lipid metabolism and the glucose homeostasis in neonates.
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