Gaucher's disease: report of 4 cases.

Review of records for last 5 years has shown 4 cases of Type I Gaucher's disease in our institute. The cases were diagnosed on bone marrow aspiration, examination of splenectomy specimen, liver biopsy and post mortem in one case. The age range was 2 years to 22 years. Male to female ratio was 3:1. Splenectomy was performed in one case and one case received enzyme replacement therapy with high dose, low frequency regimen for six months without any favorable effect. All were Hindus. Family history of similarly affected and treated twin brother was available in one case. The predominant clinical presentation was pancytopenia and splenohepatomegaly with splenomegaly greater than hepatomegaly. Remarkable constitutional inferiority was noted in one case, which succumbed to death following acute illness and bleeding diathesis. Post mortem performed showed infiltration of spleen and liver with Gaucher cells, fibrosis and myeloid metaplasia in liver and lung.

Pleural fluid analysis with traditional and additional parameters.

36 patients with pleural effusion were studied clinically with pertinent investigations and pleural fluid analysis. The pleural fluid analysis was done with routine protocol including study of traditional parameters like protein and cell count and additional parameters like pleural LDH, GOT(AST) and their ratio with serum LDH and GOT respectively. The utility of these parameters was studied critically. Amongst the isolated parameters cell count enjoyed highest (100%) specificity and positive predictive value. LDH ratio had highest (79.1%) sensitivity. Pleural LDH showed highest (52.6%) negative predictive value and diagnostic accuracy (69.4%). Amongst the combination of two parameters protein with LDH ratio had highest (87.5%) sensitivity, cell count with LDH ratio showed highest specificity (100%), positive predictive value (75%) and diagnostic accuracy (88.9%). Amongst the combination of three parameters pleural protein and cell count with LDH ratio and GOT ratio respectively enjoyed best sensitivity (87.5%), specificity and positive predictive value (100%), negative predictive value (80%) and diagnostic accuracy (90.6%). Similarly competent were the combinations offour parameters namely p rotein and cell count with LDH and its ratio and GOT and its ratio respectively. Combination of all parameters exhibited similar degree of utility.

Histomorphological Spectrum of Duodenal Pathology in Functional Dyspepsia Patients.

INTRODUCTION: Functional Dyspepsia (FD) is one of the most common causes of gastrointestinal symptoms aetiology of which is poorly understood. AIM: To study duodenal histomorphological features and their relationship with Helicobacter pylori (H Pylori) infection in patients of FD. MATERIALS AND METHODS: This case control study included 50 cases of FD patients selected according to Rome III criteria and 30 age and sex matched controls. These were subjected to oesophago-gastro-duodenoscopy, rapid urease test for detection of H. pylori on gastric antral biopsy and duodenal biopsy from second part of duodenum for histopathological evaluation by light microscopy. Ten antral urease positive cases of FD with highest Intraepithelial Lymphocyte Count (IEL) were subjected to Immunohistochemistry (IHC). RESULTS: Duodenal inflammation was an invariable feature noted in FD. Morphological spectrum consisted of increased IEL in 72%, increased duodenal eosinophils in 92%, presence of focal villous atrophy in 16%, lymphoid aggregates, colonic metaplasia, and duodenal H. pylori infection in 4% each. Gastric H. pylori positivity was noted in 48% cases of FD. Increased duodenal IEL count and duodenal eosinophilia was noted in 75%, 87.5% such cases. Same was noted respectively, with 61.5% and 95.15% cases with gastric H. pylori negativity. In cases of FD, duodenal IEL and eosinophil count in lamina propria showed statistically significant rise when compared with control and had positive correlation with gastric H pylori infection. On IHC, increased expression of CD 8 was noted in duodenal IEL and lymphocytes in lamina propria as compared to CD4. CONCLUSION: Our study provided some insight in pathogenesis of FD and role of H. pylori in its aetiology.

Aortic dissection and bicuspid aortic valve: an autopsy study.

Medico-legal post-mortems referred to the Department of Pathology, for the histopathological examination, revealed six cases of acute aortic dissection--two in isolation, three in combination with congenital bicuspid aortic valve; and one isolated case of congenital bicuspid aortic valve. One case of isolated aortic dissection was associated with Marfan's syndrome; and one case of aortic dissection with bicuspid aortic valve was associated with polycystic kidneys. History of hypertension could be elicited in two cases. Cystic medial degeneration of aorta was seen in three cases; one of which was associated with Marfan's syndrome. All five cases of aortic dissection belonged to type II of DeBakey classification.

Absolute Lymphocyte Count as a Surrogate Marker of CD4 Count in Monitoring HIV Infected Individuals: A Prospective Study.

INTRODUCTION: CD4 cell count has been proposed to be substituted by Absolute lymphocyte count in monitoring HIV infected individuals as methods of CD4 cell count and plasma viral estimation require expensive, specialized equipments and highly trained personnel. AIM: To assess the clinical utility of the Absolute Lymphocyte Count (ALC) to serve as a surrogate marker for predicting a CD4 count < 200 cells/µl in patients with HIV infection in resource poor countries. MATERIALS AND METHODS: A prospective study of 61 patients with HIV/AIDS was conducted. Sensitivity, specificity, Positive Predictive Value (PPV), Negative Predictive Value (NPV) of various ALC cut-offs were computed for CD4 cell count < 200 cells/µl for age < 30 or age ≥ 30 years. Pearson correlation, Linear regression and Receiver Operating Characteristics (ROC), were used. RESULTS: For patients aged ≥ 30 years, sensitivity, specificity, positive and negative predictive value of ALC <1200 cells/µl to predict CD4 cell count < 200 cells/µl were 34.48%, 67.5%, 43.48%, 58.69% respectively. For subjects aged < 30 years, these values were 27.27%, 67.5%, 18.75%, 77.14%, respectively. A ALC < 1643 was found to have maximal sensitivity for predicting a CD4 cell count <200/ µl. CONCLUSION: Our data revealed good correlation between ALC and CD4 cell counts but ALC cut-off of 1200 was not a surrogate marker for CD4 cell count < 200 cells/µl. As we increase the cut-off to <1643/ µl it could be the cost-effective surrogate marker for CD4 cell counts < 200 cells/µl in resource limited settings.

Tay Sachs disease: an autopsy case report.

This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.