A Rare Association of Hemoglobin J –Meerut Hemoglobinopathy with Gaucher’s Disease

Hemoglobinopathies are one of the major public healthproblems that cause significant morbidity and mortality in thepopulation. A plethora of variant haemoglobins have beendescribed in the multi-ethnic Indian population. Detection ofasymptomatic carriers by reliable laboratory methods is thecornerstone of prevention of this serious health problem.Appropriate laboratory tests are required for diagnosis andconfirmation of these disorders. The identification of Hbvariants by conventional techniques is often presumptive.HPLC offers the distinct advantage over classic Hbelectrophoresis as it can more accurately identify andquantitate abnormal Hbs. Hb J Meerut is an infrequentlyfound alpha globin variant that has been reported invarious populations around the world. They are clinicallysilent and discovered accidentally. No case of Hb J alphamutation with Gauchers disease has been reported earlier sofar. Here we are reporting a rare variant of Hb Jalpha mutation in association with Gaucher’s disease that wasdetected accidentally in a 5 yr male child by HPLC and USGguided splenic aspiration.

Cytohistopathological and ImmunohistochemicalCorrelation of Soft Tissue Lesions

Introduction: In the present era, FNAC has proved to be anessential primary diagnostic procedure for soft tissue lesions.To correlate its efficacy and to further subtype,histopathological examination is done aided by IHC if required.The present study aimed to evaluate the epidemiologicaldistribution of soft tissue lesions with reference to age, sex andsite and to assess the utility of FNAC in terms of sensitivity,specificity, positive and negative predictive values, and overallhistological correlation percentage of cytology in diagnosingvarious types of soft tissue lesions.Materials and Methods: Prospective study was carried outduring the period of Sept 2017 to May 2019 for FNAexamination of soft tissue lesions. Cytopathological andhistopathological examination was carried out in all cases withimmunostaining done in few cases.Results: Of 463 soft tissue lesions that could be successfullyfollowed up, 347 were benign lesions and rest were malignant.Most common age group affected were 31-40 years with slightmale preponderance (M:F=1.37:1). Most common site beingLower extremities. Lipomas were the most common soft tissuelesions (169 cases) and spindle cell sarcomas were the mostcommon malignant lesions. The cytological andhistopathological diagnosis correlated well in almost all casesexcept discordance was seen in 5 cases. The sensitivity andspecificity of the procedure were 97.4% and 99.4%respectively.Conclusion: FNAC was found to be a highly specific andsensitive tool in diagnosing soft tissue lesions and can be fairlyimplemented as it is well tolerated and cost effective forpatients.

Clinico-Hematological Profile of Aplastic Anemia in Southern Odisha: An Institutional Study

Introduction: Aplastic anemia is a potentially life-threateningfailure of hematopoiesis, characterized by pancytopenia andhypocellular bone marrow. Aplastic anemia if untreated resultsin very high mortality. Early diagnosis of Aplastic anemias isessential for appropriate management of the patient.Aims and Objectives: The aim of the study was to assess theprevalence of the condition in southern odisha admitted to thisinstitute and to study the clinico-hematological profile for theassessment of severity by using the modified Camitta criteriaaiding in their management protocol.Materials and Methods: This study was carried outprospectively in the Department of Pathology, MKCGMedical College & Hospital during the period of June 2017 toMay 2019. A detailed clinical history, physical examination,Complete Blood Count, CPS, Reticulocyte count, Bone marrowaspiration and Biopsy were performed in each case and theobservations were evaluated using simple and basic statisticaltools.Results: There are 63 diagnosed cases of aplastic anemiaduring the study period. Out of 63 cases 36 cases are male(57.14 %) and 27 cases are female (42.86 %) indicating a malepreponderance of this disease and male to female ratio is 1.3:1. We also found that, Aplastic anemia has a bi modal agedistribution. Fever, generalized weakness and bleeding due tothrombocytopenia are commonest clinical manifestations. All63 cases are sub categorized into 38 Non severe cases (60.32%), 17 severe cases (26.98 %) and 8 cases are very severe(12.70 %).Conclusion: A good knowledge on clinical and hematologicalparameters will certainly aid in early diagnosis of Aplasticanemia and sub-categorization for treatment. But in adeveloping country financial constraints and lack of awarenessforms a major drawback in patient management. So earlydiagnosis of Aplastic Anemia reduce the treatment cost as wellas will decrease mortality.

Role of FNAC in the Diagnosis of Skin and Subcutaneous Lesions: A 3 Years Prospective Study

Skin is the largest organ of the body consisting of epidermisand dermis. Skin and superficial subcutaneous soft tissuespresent with a wide array of lesions ranging from nonspecificdermatoses and inflammatory lesions to frank neoplasms.FNAC is suitable for palpable skin and subcutaneous lesionsdue to easy accessibility and adequate material yield. Certainsubcutaneous and nodular skin lesions very often come tocytology lab for quick evaluation and opinion on being benignor malignant. In our study we evaluate various skin andsubcutaneous lesions that was send to our department forFNAC.

Cytological Diagnosis of Multiple Normolipemic Tuberous Xanthoma: An Unusual Occurrence

Xanthomas are lesions characterised by accumulations oflipid laden macrophages within the dermis. Tuberousxanthomas are large nodular lesions those develop inpatients with underlying hyperlipoproteinemias. A 26-yearold female presented to our hospital with multiple tuberousswellings on the extensor surface of the body since 15 years.We also incidentally detected presence of Nodular thyroidswelling while examining the patient in our lab. Routineinvestigations along with Lipid profile were within normalrange and serum protein electrophoresis showed normalpattern. FNAC from few Tuberous nodules and multiple sitesof thyroid nodule was then performed. Cytosmears in alltuberous nodules showed good number of foamy histiocytesin clusters and discretely admixed with plenty of giant cellsand collections of cholesterol crystals over a dirtyhaemorragic background. Surprisingly FNAC done fromthyroid smears shows good number of epithelioid cellclusters, group of benign follicular cells and other featuressimilar to aspiration of tuberous nodules. Thyroid functionrevealed increased TSH with low normal T3,T4. Histopathology from a single excised nodular lesionshowed attenuated epidermal lining with collection of foamymacrophages in the dermis with plenty of giant cell reactionand cholesterol crystals that confirmed our findings to beTuberous xanthoma. We present a case of normolipemictuberous xanthomas with its association with thyroid disorder(hypothyroidism), which is an uncommon occurrence.

Evaluation of Effusion Fluid (Pleural and Peritoneal) with Special Reference To Cell Block Preparation and Immunohistochemistry for Differentiating Between Reactive Mesothelial and Malignant Effusion

Background: The serous cavities are lined by a single layer offlat mesothelial cells called the serosa. Normally these cavitiesare collapsed and contain only a small amount of fluid, enoughto lubricate the adjacent surfaces. Cytological examination ofserous fluid is of paramount importance. It reveals informationabout inflammatory conditions of serous membrane, infectionby bacteria, fungi, virus and presence of malignant cells.Differentiation of population of reactive mesothelial cells fromthose of malignant cells remains a diagnostic challenge inconventional cytological smear. To overcome this challenge,cell block technique along with immunocytochemistry gives abetter histoarchitectural pattern and support immensely forcategorising the effusion to be reactive or malignant.Aims and Objectives: To evaluate utility of cell blocktechnique in effusion fluid (pleural and peritoneal) using limitedimmunohistochemistry markers for differentiating betweenreactive mesothelial and malignant mesothelial cells.Materials and Methods: The present study was carried out inDepartment of Pathology at M.K.C.G MCH, Berhampur,Odisha over a time period from July 2016- July 2018. A total of90 cases were evaluated. The fluids were stained with routinecytological stains. Cases on evaluation of cytomorphology ifsuspicious for malignancy, cell block was prepared. Cell blockwere stained both for routine hematoxylin and eosin andimmunohistochemistry with EMA (Epithelial marker antigen) forepithelial cells and Calretinin for mesothelial cells.Results: A total of 90 cases were evaluated cytologically. 40cases showed benign features and 24 cases showedmalignant features on cytomorphology alone. 26 cases weresuspicious for malignancy which on cell block preparation andimmunocytochemistry were differentiated as benign (10 cases)or malignant (16 cases). EMA showed 97.5 % sensitivity and98% specificity. Calretinin showed 100 % sensitivity and 97.5%specificity.Conclusion: The use of cytopathology of pleural andperitoneal effusion is helpful for early diagnosis and treatment.The technique is cheap, easy to perform and produces speedydiagnosis. In the identification of malignant cells in effusion andits differentiation from cells showing reactive and degenerativechanges there were diagnostic difficulties in some of the cases.Immunocytochemistry is an important diagnostic tool ineffusion cytology.