Role of genetic counselling in prenatal diagnosis of p-thalassaemia in Pakistan

To compare the response towards prenatal diagnosis [PND] of [3-thalassaemia, in individuals who had not received genetic counselling and a genetically counselled population. Cross-sectional survey. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from March 2009 to December 2010. Using non-probability consecutive sampling, a total of 176 individuals having thalassaemic children, were interviewed regarding PND of thalassaemia, by using a structured questionnaire. Forty two individuals were taken as controls as they had received genetic counselling for PND, whereas the remaining 134 were taken as cases. Responses towards PND were compared using chi-square test. Odds ratio was also calculated for subsequent PND utilization. Seventy [52.2%] cases and 42 [100%] controls were aware of the availability of PND in Pakistan. This difference in awareness was statistically significant [p < 0.001]. In the controls, 40 [95.3%] individuals were aware of the appropriate timing of the test, in contrast to 52 [39%] cases [p < 0.001]. PND was used in subsequent pregnancies by 50 [37.3%] cases and 32 [80%] controls [p < 0.001]. The calculated odds ratio for subsequent PND utilization was 5.37. The study reflects a very positive attitude of genetically counselled thalassaemia affected families towards PND. For better utilization of PND, genetic counselling services should be available at all health strata

Frequency of janus associated kinase 2 [V617F] mutation in patients of polycythemia vera

To determine the frequency of Janus associated kinase 2 [JAK2] mutation in patients of polycythemia vera [PV]. Descriptive cross-sectional. Haematology Department, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from January 2008 to December 2009. Forty-six consecutive patients of PV diagnosed by the conventional haematological criteria were included in the study. Blood samples of all patients were screened for G-T point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific polymerase chain reaction [PCR]. JAK2 V617F mutation was found in 43 out of 46 patients [93.5%] with PV. Among them, 30 were males [65.2%] and 16 were females [34.8%]. Mean TLC in patients with PV was 16.5 +/- 9.1 x 109/L, mean haemoglobin [Hb] was 17.8 +/- 2.0 g/dl, mean platelet count was 531 +/- 261 x 109/L, mean PCV was 57.9 +/- 6.3 l/l, mean MCV was 78.8 +/- 11.0 fl and mean MCH was 24.4 +/- 4.8 pg. Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients

clinicomorphological study of lymphadenopathy

A total 238 lymph nod specimen were studied at various Hospitals of Lahore. The ages of these patients ranged from 2 years to 80 years. Maximum number of patients with lymphadenopathy [90 out of 238] 37.8% cases were in 10-19 years age group. Females [51.7%] presenting with lymph node enlargement were more affected than males [48.3%]. The commonest presenting complaint was fever [56.3%]. Cervical lymph nodes [80.3%] were the commonest site of involvement. On histopathological examination, seven morphological groups were highlighted; tuberculous lymphadenitis [42.5%], chronic nonspecific lymhadenitis [36.6%], viral lymphadenitis [3.4%] acute bacterial lymphadenitis [0.8%]. Fungal lymphadenitis [0.8%], Metastatic carcinoma [11.3%] and lymphomas [4.6%]

Immunoreactivity of proliferating cell nuclear antigen in transitional cell carcinoma of urinary bladder

This is a descriptive study designed to evaluate Proliferating cell nuclear antigen [PCNA] in transitional cell carcinoma. A total of fifty per urethra resected bladder tumour samples [TUR BT] were collected from Mayo Hospital and Services Hospital, Lahore and processed for H and E and PCNA stain. The grading of tumours were made on H and E stain. While Proliferating cell nuclear antigen labeling index was recorded for each case. The mean PCNA labeling index was significantly higher in grade III when compared with tumours of grade II. [p < 0.001] carcinoma. Similarly mean PCNA labeling index was significantly higher [p < 0.05] in patients having duration of symptoms up to 3 month when compared with the patients having longer duration of symptoms. The mean PCNA labeling index had significantly higher value in high grade tumours as compared to low grade tumours [p < 0.001]. Although determination of PCNA labeling index is costly yet it has significant role in tumour grading

Medulloblastoma: a life threatening cancer of infancy and childhood

Medulloblastoma is a rare and aggressive tumor of the brain that usually occurs in children or young adults with a tendency to metastasize. The incidence in infant is rare. We came across one such child who presented with slight disorientation, vomiting, irritable personality and somewhat large size head. The clinical, radiological preoperative diagnosis was space occupying lesion in the posterior fossa. On histological examination it turned out to be Medulloblastoma of infratentorial region in posterior fossa

Patterns of argyrophilic nucleolar organiser regions in pleural and peritoneal effusions

To evaluate AgNOR size and dispersion as alternate methods to AgNOR counts in order to differentiate malignant from non-malignant effusions. Comparative study. Department of Pathology, Postgraduate Medical Institute, Lahore, from January 2003 to June 2004. A total of 240 samples of pleural and peritoneal effusions were centrifuged, deposits smeared on slides and stained with H and E and AgNOR stain. The diagnosis of malignancy or otherwise was made on H and E staining. AgNOR counts, variation in size and dispersion of AgNOR dots in smears were graded and compared in malignant and non-malignant effusions. Mean AgNOR counts of 11.47 +/- 3.60 and 11.04 +/- 3.89 in malignant pleural and peritoneal effusions, respectively, were significantly [p<0.0001] greater as compared with counts of 3.36 +/- 0.69 and 3.35 +/- 0.66 in non-malignant effusions. AgNOR size and dispersion were of higher grade in significantly greater proportion of malignant as compared with non-malignant effusions [p<0.0001]. Typing of AgNOR size and dispersion was found to be an easy and reproducible alternative to traditional AgNOR counts for differentiating malignant from non-malignant effusions. These parameters should be correlated with already established but expensive techniques of AgNOR area and size imaging by electron microscopy and flow cytometry, as an economical alternative

Correlation of glial fibrillary acidic protein [GFAP] with grading of the neuroglial tumors

To determine the distribution of glial fibrillary acidic protein [GFAP] in human neuroglial tumours and its correlation with histologic grading. Analytical. Postgraduate Medical Institute, Lahore, on the cases from 1999 to 2001. Materials and Methods: Fifty formalin fixed paraffin-embedded tissue blocks were obtained. Two sections from each block were taken. One was stained with heamatoxylin-eosin stain while second for GFAP that is the unlabelled antibody immunoperoxidase [peroxidase ' antiperoxidase PAP] method was used. The non-neoplastic brain tissue was used as positive control, while cases reported medulloblastoma tumour was used as negative control. We applied a scoring scale 0 to 3+, to evaluate its correlation with the grade of tumour. In positive control only the cell process and perikaryons of fibrous astrocytes was stained. The 35 cases of various grade astrocytoma showed a varying intensity of GFAP staining. Similarly, 3 cases of glioblastoma multiforme, 2 cases of sub-ependymal giant cell astrocytoma, 2 cases of pleomorphic xanthoastrocytoma, 2 out of 4 cases of ependymoma and the case of oligoastrocytoma showed a positive reaction. The stain was more intense over processes than in perikaryons, with the exception of gemistocytic astrocytomas and the giant cells in glioblastoma multiforme, which showed an equally intense stain over perikaryons and processes. Comparison of the histological grade with GFAP score was significantly higher in high grade tumour when compared with tumour of grade I [p<0.001]. In astrocytic neoplasms the number of GFAP positive cells and the intensity of the stain were directly proportional to the degree of malignancy. All the 3 cases of oligodendroglioma showed a negative reaction to GFAP. Only astrocytic component was positive which are poorly visualize by H and E stain. The GFAP score shows significant relation with the present WHO grading system of glial tumours. GFA protein is specific for glial cells and it is useful to diagnose those glial tumours which are difficult to be identified by heamatoxylin-eosin stain or due to rare or unusual site

Morphological variations in appendicectomy specimens

To study and describe the various gross and microscopic presentations of appendicectomy specimens. Prospective analysis of surgical specimens. Pathology Department, PGMI, Lahore. Single center. Morphological examination of the specimens. 250 appendicectomy specimens were studied. The gender more frequently affected was male [1.6:1 cases]. The mean age was 16 years. The clinical diagnosis was acute appendicitis in 246 cases. This was confirmed in 209 cases. 28 cases revealed normal morphology. Worm infestation was seen in 4 cases. All of these belonged to the paediatric age group. One case revealed a carcinoid tumour. All resected specimens including appendices should be subjected to a thorough histopathological examination

AgNOR staining in malignant and benign effusions

To evaluate the correlation of argyrophilic nucleolar regions[AgNORs] and malignancy in benign and malignant effusions. Design: The study group consisted of pleural and peritoneal effusion samples obtained from patients suffering from various benign or malignant diseases. The cytological smears were studied by conventional haematoxylin and eosin [H and E] and silver staining for AgNORs. Setting: The samples were obtained from patients admitted in Mayo Hospital, Services Hospital, Gulab Devi Chest Hospital and Institute of Nuclear Medicine and Oncology [INMOL]. Subjects: One hundred cases having either pleural or peritoneal effusions were selected. Fifty of these cases were positive for malignant cells and fifty had reactive mesothelial cells in them. Main Outcome Measures: Assessment of AgNOR count as a diagnostic marker of malignancy. AgNOR count was helpful in differentiating benign from malignant cells. AgNOR count in malignant cells was 10.62 t 3.36 and 3.04 t 0.64 in reactive mesothelial cells. AgNOR count is a rapid, easily reproducible method of differentiating reactive mesothelial cells and malignant cells

Morphological evaluation of rabbit renal tissues preserved in ringer lactate, Euro collins and university of Wisconsin solutions

Formalin though an excellent preservative of tissue morphology for routine use, compromises tissue antigenicity. This interferes with immunohistochemistry. An attempt was made to preserve rabbit renal tissues in three most commonly used organ preservation solutions. These are Ringer lactate, Euro Collins solution and University of Wisconsin solution. The tissue slices were kept in these solutions at room temperature for various fixed time intervals. This was followed by routine processing. The degree of preservation was assessed in qualitative as well as quantitative terms. The quantitative assessment was made by a newly devised method. This semi quantitative method is based on established microscopic features of autolysis. The method was found to be reliable and reproducible. Amongst the solutions tried, UW solution revealed clear superiority over other solutions

Prevalence of parasites in house-files from diffrent areas of Lahore

The Presence of a large number of. house-flies is a direct indication of the poor sanitary conditions of a particular locality. In the insanitary localities the usual features have been found to be the presence of heaps of refuse and filth scattered here and there due to indiscriminate defaecation, open kitchen wastage, open latrines, meat shops and slaughter houses. In the present study 14,400 house-flies were collected from six insanitary and six sanitary areas of Lahore over a period of one year. The frequency from insanitary and sanitary areas was 21% and 13.98% for the cysts and 16.66% and 10.75% for ova respectively. The frequency of the cysts and ova was found to be significantly higher [P<0.001] in the insanitary areas. It is recommended that sanitary conditions should be improved to minimize the population of house-flies in Lahore