BACKGROUND Thalassaemias and haemoglobinopathies are highly prevalent in India. Identification of these disorders is important for epidemiologic purposes and for prevention of thalassaemia major and clinically severe haemoglobinopathies. The use of high performance liquid chromatography (HPLC) as a screening method for detection of these groups of disorder is increasing in last two decades. The aim is to study of thalassaemias and haemoglobinopathies using high performance liquid chromatography as a diagnostic tool in patients of a tertiary care hospital of Odisha. METHODS AND MATERIALS A total of 788 cases were included in the study. Samples were analysed on the BIO-RAD D-10 TM dual mode HPLC system. Personal history, family history, peripheral blood findings and sickling test result were correlated. Family studies were done whenever required and possible. However, secondary confirmatory tests were not done. Statistical analysis was done on Microsoft Excel. Continuous variables were expressed as mean ± SD. Categorical variables were expressed as frequencies and percentages. RESULTS Abnormal HPLC patterns were seen in 37.18% of cases. Sickle cell heterozygous (15.10%), sickle cell homozygous (9.90%) and βthalassaemia trait (6.10%) were the most common abnormalities found. Other patterns detected include β-thalassaemia major and intermedia, compound heterozygous state of HbS and β-thalassaemia, HbE trait, HbE disease, double heterozygous state of HbS and HbE, HbE and β-thalassaemia and HbS and hereditary persistent of foetal haemoglobin, HbD Punjab trait, Hb Lepore trait and HbH disease. CONCLUSION Sickle cell along with β-thalassaemias are the major abnormal haemoglobins in Odisha. Premarital and antenatal screenings are important measures to prevent birth of children with severe haemoglobin disorders. HPLC is a rapid and reliable technique for identification of various haemoglobin fractions.
A seven-year-old male child presented with generalised progressive swelling all over body with decreased urine output and nephrotic range proteinuria. He had history of headache & visual impairment since 6 months. No history of fever, arthralgia, rashes or any other symptoms present. His blood pressure was 160/90 mmHg. Investigations: Hb-6.37 gm/dl, TLC-20,110/cmm, TPC-4.1 lakh/cmm, Sr. Urea-63 mg/dl, Sr. Creatinine-1.1 mg/dl, Sr. Total Protein-3.7 gm/dl, Serum albumin-1.4 gm/dl, Total cholesterol-351 mg/dl, ANA-1+Positive, ASO-Negative, Sickling test-Negative, Sr. C3-78 mg/dl, HIV/HBsAg-Negative, Urine RE/ME-Albumin 4+, pus cells-0-2/HPF, RBCs-4-6/HPF, hyaline cast-0-2/LPF, Spot urine protein-814.8 mg/dl, spot urine creatinine-32.15 mg/dl, Urine protein creatinine ratio-25.343 mg/gm, Stool RE/ME-Strongyloides stercoralis, USG Abdomen &pelvis showed cholelithiasis, ascites. MRI brain revealed bilateral occipital cortex cortical atrophy. Clinical diagnosis was Nephrotic syndrome associated PRES. Renal percutaneous biopsy was done. Histopathology showed presence of fetal glomeruli & mild mesangial matrix accentuation in one glomerulus. (Fig. 1, 2) Features of acute tubular injury with atrophic tubules seen with moderate chronic inflammatory cell infiltration in interstitium. (Fig. 3) Blood vessels were unremarkable. Immunofluorescence study showed minimal positivity for IgM& C3 antisera. So, the diagnosis of tubulointerstitial nephritis with mild mesangial sclerosis in association with PRES was given. DIFFERENTIAL DIAGNOSIS The non-specific clinical manifestations and multiplicity of radiological patterns increases the diagnostic challenges as various other conditions mimic PRES. 12 1. Acute Cerebral Ischaemia: Unilateral lesions with a decreased diffusion coefficient. 2. Cerebral Venous Thrombosis: Asymmetric, diffuse lesions. 3. Transient Cerebral Hyperaemia: Develops after an episode of seizure or end arterectomy.
Background: Skin adnexal tumours are heterogenous group of uncommon tumours having distinct histological features. They have varied clinical presentation and morphological differentiation towards one or more types of adnexal structures found in normal skin. The aim of this study was to study the different histomorphological patterns of appendageal tumours and correlate them with clinical presentations. Materials and Methods: This was a retrospective study of three year duration of all cases clinically diagnosed to be appendageal tumours and confirmed by histopathology in our department. The tumours were classified according to their differentiation after a detailed histopathological examination in haematoxylin and eosin sections. Results: The total number of cases in the study were 43,in which 28 were males and 15 females. Most of the tumours (97.7 %)were benign and there was only one case sebaceous carcinoma. The majority of the tumours had an eccrine differentiation (30.9%), nodular hidradenoma among them being the most common lesion (20.9%). Trichilemmal cyst (30.2%) constituted the maximum cases of pilar origin. Conclusion: Skin adnexal tumours are relatively rare with benign ones being more common than the malignant tumours. Proper clinical correlation and histopathological study helps in reaching a correct diagnosis.
Gastric cancer is the 5 most common malignancy and 3 leading cause of cancer death worldwide. Most cases are diagnosed in advanced stages making treatment difficult. International regulatory agencies have recently approved trastuzumab therapy in locally advanced and metastatic gastric adenocarcinomas expressing HER2. To find HER2/neu expression in adenocarcinoma of stomach and correlate with clinicopathological features and study H.pylori positivity in HER2 positive cases. The ambispective, observational study was conducted in the department of Pathology (July 2017 to June 2019). Seventy eight cases of gastric adenocarcinoma were studied, both endoscopy guided biopsy or gastrectomy. Expression of HER2/neu and detection of Helicobacter pylori was done using immunohistochemistry. HER2 expression was correlated with clinicopathological parameters and H.pylori infection. Fisher’s exact test, chi square test and p value <0.05 was considered significant. HER2/neu was positive in 26.92% of cases, 16.67% were equivocal and 56.41% were negative. 55.13% of intestinal type were HER2 positive. Grade 1 tumor showed more HER2 positivity (42.31%). HER2 positivity was independent of other parameters like age, sex and location of tumor. H.pylori was positive in 24.36% of HER2/neu positive cases. HER2 positivity correlated with Lauren’s intestinal type and grade 1 of tumor.HER2 is an independent biomarker regardless of other clinicopathological features. Though few Her2 positive cases showed H. pylori positivity, more larger studies are required to establish statistically significant association between HER2 positivity and H.pylori infection.
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