Bone marrow infiltration in "small blue cell tumours"

Small round blue cell tumors present predominantly during childhood and adolescence. They include Ewing's sarcoma, peripheral neuroectodermal tumors, retinoblastoma, nephroblastoma, rhabdomyosarcoma, mesenchymal chondrosarcoma and small cell osteosarcoma. Bone marrow biopsy is indicated for staging the disease, and if marrow infiltration is detected, it is a poor prognostic indicator To evaluate the frequency and pattern of bone marrow infiltration by small round blue cell tumors. A retrospective descriptive study was carried out at Department of Pathology, Pakistan Institute of Medical Sciences from January 2007 to December 2010. Histologically diagnosed and immunophenotypically verified cases of small round blue cell tumors [excluding lymphomas], referred for bone marrow examination were included in the study. Bone marrow aspiration and trephine biopsy was performed. Age and sex distribution, clinical findings, peripheral blood findings and frequency of bone marrow infiltration in different types of round blue cell tumors was noted and the data were analyzed on SPSS version 14. Amongst 82 cases included in the study, 42 were males and 38 females. Age ranged from 6 months to 22 years with mean age of 4.3 +/- 3.98 SD years. In the cases studied, 16 [19.5%] showed bone marrow infiltration. Bone marrow infiltration was observed in 19.5% of cases of round blue cell tumours

Haematological malignancies in chronic hepatitis C patients referred for bone marrow biopsy

Chronic hepatitis C has a well documented association with hepatic and extra hepatic malignancies. To look into the spectrum of malignancies in chronic hepatitis C patients referred for bone marrow biopsy for having disturbances in haematological parameters. This descriptive crosssectional study was conducted at Department of Pathology, Pakistan Institute of Medical Sciences [P.I.M.S], Islamabad, from July 2009 to June 2011. A total of 90 diagnosed cases of chronic hepatitis C referred with various indications for bone marrow biopsy were included in the study. A detailed account of clinical history and physical examination was taken. All the patients were subjected to peripheral blood counts and bone marrow biopsy. Data were entered on the SPSS 14 and analyzed. Amongst a total of 90 patients, 14 [15.6%] were diagnosed to have various types of haematological malignancies. Among these seven cases were diagnosed as lympho-proliferative disorders, including 3 cases of acute lymphoblastic leukemia, 3 cases of non-Hodgkin's lymphoma and 1 case of Hodgkin's disease. Chronic myeloid leukemia was observed in 2 cases. Myelofibrosis and myelofibrosis with essential thrombocythemia and multiple myeloma were observed in 1 case each and metastatic lesion was observed in 2 cases

Acute myeloid leukemia amongst adults

Acute myeloid leukemia is characterized by infiltration of bone marrow and other tissues by abnormal myeloid precursors, often with appearance of these abnormal cells in the peripheral blood. AML comprises about 80% of acute leukemias in adults. Clinical features are generally ascribed to marrow failure as well as infiltration by blast cells. To look into various FAB types of AML and clinically correlate them. This cross-sectional, descriptive study was conducted at the department of pathology, Pakistan Institute of Medical Sciences, Islamabad from July 2007 to July 2009. A total of 56 consecutive freshly diagnosed adult patients of AML were included in the study. Clinical data and Complete blood counts were studied. Bone marrow aspiration, and when required trephine biopsy were performed. Blood and bone marrow slides were stained by Wright stain; cytochemical stains were performed whenever required. Data were analyzed using SPSS version 14. Mean and +/- SD were calculated for numerical values and frequencies for string values. In total of 56 adult cases of AML 33 [59%] were males and 23 [41%] were females. The age ranged from 16 to 79 years with mean +/- SD age of 37 + 17.19 years. The most common subtype was AML-M1 [32%] followed by M3, M4 [19.6% each], M2 [14%] and AML-M5 [9%], respectively. AML-M6, M7 and M0 were observed in one patient [1.8%] each. Hepatomegaly was observed in 48% patients, splenomegaly in 45% patients and lymphadenopathy was noted in 38% patients. Tissue infiltration was most common with AML-M4 and AML-M5 subtypes and least frequent with AML-M3 subtype. Majority of patients of AML were found to be anaemic. Leukocyte count more than 1 lack was seen in 13 [16%] patients. Majority of patients [94%] had thrombocytopenia. Pancytopenia was noticed in 13 [15.8%] patients and these included cases of M1, M2, M3 and M0. None of the Patients of AML-M4, M5, M6 and M7 presented with pancytopenia

Portal vein thrombosis in a case of chronic myeloid leukemia- a rare association

Chronic Myeloid Leukemia [CML] in absence of hyperleukocytosis is an unusual cause for hepatic vein thrombosis. We present a case of hepatic vein thrombosis that presented with abdominal pain, vomiting and splenomegaly. Ultrasound and Doppler study findings indicated hepatic vein thrombosis. His thrombophilia profile was normal. However he had slightly raised platelet count and mild leukocytosis at that time. He showed improvement on anticoagulant therapy. However after two years he presented with weakness and was suggested bone marrow biopsy and cytogenetic studies. The findings of these tests were in favour of CML in chronic phase and cytogenetic studies revealed Philadelphia positivity. He was not evaluated for thrombocythemia though he had raised platelet count at the time of presentation. He is now receiving treatment for CML. It is proposed that the patient may have developed essential thrombocythemia in addition to Philadelphia positive CML, thereby making the patient prone to thrombotic episodes even at an early stage of CML. Unfortunately he could not be evaluated for JAK-2 mutation at any stage. It is suggested that in absence of hyperleukocytosis patients with history of thrombosis should be evaluated for myeloproliferative disorders [MPDs] as treatment for these disorders itself reduces the size of thrombus

Human penile ossification

Ossification in the human penis is a rare condition and very few cases have previously been reported. Among several conditions that have been correlated with this problem the most frequent is Peyronie's disease. Other causes include trauma, end stage renal disease, syphilis, gonorrhea and metabolic disorders like gout and diabetes. In all these conditions, human penile ossification appears to be a metaplastic bone formation process. In view of this, the following case is worthy of record

Clinical manifestations of acute myeloid leukemia

Acute myeloid leukemias [AML] affect preferentially adults. Clinical manifestations are due to cytopenias and tissue infiltration. Manifestations vary with certain subtypes e.g. bleeding and infections are common with AML-M3, tissue infiltration is more often seen in AML-4 and M5, and bone marrow fibrosis is seen in AML-M7. To study demographic features and clinical manifestations of acute myeloid leukemia. Patients and A cross-sectional study was conducted at department of Pathology, Pakistan Institute of Medical sciences, Islamabad from July 2007 to July 2009. All the cases of AML [diagnosed on bone marrow biopsy] belonging to all age groups and both sexes were included in the study. Age at diagnosis, symptoms and clinical findings in AML and its various subtypes were noted. Results were entered on SPSS version 14 for statistical analysis. In a total of 82 cases of AML, 55% were males and 45% females, with mean age of 27.5 +/- 19.9 years SD. The most common subtype was AML-M1 [33%] followed by M3 [22%] and M4 [18%], respectively. The common presenting symptoms were pallor, fever and bleeding. Hepatomegaly, splenomegaly, lymphadenopathy and gum hyperplasia were also frequent. Tissue infiltration was the commonest in AML-M5 and M4. Acute myeloid leukemia is the malignancy of adults; it is more common in males and manifestations vary with its subtype

Prognostic scoring in patients of chronic myeloid leukemia: correlation between Sokal and Hasford scoring systems

Chronic myeloid leukaemia [CML] is a clonal myeloproliferative disorder of transformed primitive hematopoietic progenitor cells. Chronic myeloid leukaemia is one of the commonest leukemias. Patients of CML are usually subjected to risk stratification according to various prognostic criteria. The Sokal scoring system is popular as a prognostic discriminator for survival in patients treated with chemotherapy. Hasford et al proposed a new CML scoring system referred to as Euro score. Correlation of various prognostic risk groups of Hasford scoring system with comparable prognostic groups of Sokal scoring system in chronic myeloid leukemia. This descriptive study was conducted at department of pathology, Pakistan institute of medical sciences from March 2003 to October 2006. A total of 59 consecutive freshly diagnosed untreated cases of CML were subjected to Sokal and Hasford scoring systems, and the results were correlated with each other. In total of 59 cases of CML age range was from 8 to 70 years with mean +/- SD of 35.39 +/- 17.12 years. Six [10.1%] patients belonged to pediatric age group i.e. <15 years. Male: female ratio was 1.3:1. According to Sokal criteria about half of the patients were found in intermediate risk group; 44% were in high risk group and only 5% in low risk group. Using Hasford scoring system, 44% of patients were placed in intermediate risk, 30.5% in high risk and 15% in low risk groups. Hasford score identifies more patients still in low risk group as compared to Sokal scoring system and prospective studies should be carried out to see overall survival and disease free survival of these risk groups

Prenatal diagnosis of thalassemia: practices among parents of thalassemia major patients

To evaluate the practices and attitudes of parents of thalassemia major patients towards chorionic villous sampling [CVS]. A cross-sectional study was conducted at thalassemia centre at Pakistan Institute of Medical Sciences in the months of]uly and August 2011. Information regarding CVS rvas taken from parents of 100 registered beta thalassemia major patients. Parents with no history of pregnancy after index case, parents of alpha thalassemia patient and those with other haemoglobinopathies were excluded from study. Results were entered and analyzed on SPSS version 17. After the index only 28 families underwent prenatal diagnosis of thalassemia by CVS. There were 72 families in which CVS was not done. Out of these it was not advised in 48 families and there were 24 families in which it was advised but they did not opt for it. Various reasons for this included health, religious and social issues and also the risk of miscarriages, when they were asked for CVS in future pregnancies, majority [67%] said yes but 33% were still not convinced to go for CVS in future. Prenatal diagnosis of beta-thalassemia by CVS is available in Pakistan for over a decade but its use remains limited. The main reasons for the limited use were that either they were not advised, or they did not opt for it for cost, health, social and religious issues. There is a need to impart awareness of the procedure particularly addressing the above mentioned issues.

Validation of automated ESR methods with conventional method as gold standard

To compare the ESR values by Ves-Matic Easy and Vacuette SRS 20/11 with conventional Westergren method, aiming to validate the automated methods. A cross-sectional study was conducted at Islamabad Diagnostic centre, Islamabad. A total of 108 blood samples were subjected to ESR estimation by manual Westergren method and by automated [Ves-Matic and Vacuette SRS] methods. Results were analyzed on SPSS ver. 17. Results were compared and their correlation was calculated using Pearson correlation coefficient. There is strong positive correlation between Westergren method and Ves-Matic easy methods with Pearson coefficient of 0.97 and highly significant p value of 0.000. Results also show strong positive correlation between Westergren and Vacuette SRS methods with Pearson coefficient of 0.95 and highly significant p value of 0.00. Both automated methods [Ves-Matic Easy and Vacuette SRS] show good correlation to manual Westergren method, and are reliable and suitable for use in high workload clinical laboratory.

Osteopetrosis, a rare cause for bone marrow failure

Osteopetrosis is a rare genetic disorder characterized by functional defect of osteoclasts resulting in failure of bone resorption, increased bone sclerosis and bone marrow failure. Patients present with stunted growth, skeletal changes, hepatosplenomegaly, features of pancytopenia and characteristic radiological changes. Osteopetrosis has variable inheritance pattern. Diagnosis is made on the basis of history with clinical findings, characteristic radiological and bone marrow findings. We present a case of a.10 years old female child with stunted growth, frontal bossing teeth abnormalities and characteristic radiological and bone marrow findings.

Thrombocytopenia in pregnancy

Thrombocytopenia is the second commonest hematological abnormality during pregnancy. In majority of cases platelet counts revert back to normal after pregnancy is over. However, in some cases, the disease is more serious disease and if not managed properly leads to increased maternal mortality and morbidity and may also manifest fatal haemorrhages in neonates. Detailed history and physical examination with properly directed laboratory tests usually facilitate in early diagnosis and reduced morbidity and mortality.

Primary renal lymphoma: a rare cause of renal enlargement

Primary renal lymphoma [PRL] is a rare entity seen predominantly adult males. Patients usually have non specific manifestations and diagnosis may be delayeduntil they present with appreciable renal mass with recognizable clinical manifestations. Diagnosis depends upon ultrasound, CT scan [with exclusion of primary Iymphoma at other site and Iymph node enlargement], histopathology and immunohistochemistry. We present a case of fifty years old female who presented with dull abdominal pain and fever. On ultrasound a huge renal mass replacing the whole of the kidney was found. Ultrasound and CT scan for lymphadenopathy, organomegaly or any fluid was unremarkable. Histopathology of nephrectomy specimen received, showed replacement of renal tissue by sheets of large sized malignant lymphoid cells with vesicular nuclei. Immunohistochemistry confirmed its non epithelial origin and B- cell Non Hodgkin's lymphoma.

45 XO/46 XY male with deletion of long arm of Y chromosome: a rare cause for ambiguous gender

Disorders of sex development are among the most complex conditions for which many a time no definitive cause can be found. The birth of a child with ambiguous genitalia represents a big challenge and a multidisciplinary team is required for the diagnosis and management of these patients. We present a case of a 5 year old child whose external genitalia were not well formed and he presented with undescended testes. His ultrasound showed presence of both testes in deep inguinal ring and small left sided uterus. Developmentally and intellectually tire child seemed fine for his age. He was initially brought up as a girl but was upset and felt himself misfit and when he was dressed and made to play with boys his personality changed altogether and he became a lively cheerful child. He was referred for cytogenetic studies and showed 45XO karyotype in 90% metaphases and 46, Xdel[Yq] in 10% metaphases with a small Y chromosome having a significantly deleted q arm.

Correlation of bilirubin with liver enzymes in patients of falciparum malaria

Falciparum malaria is responsible for 1-3 million deaths annually worldwide. Liver involvement is common and may manifest as raised serum bilirubin, hepatomegaly and elevated liver enzymes. Unconjugated hyperbilirubinemia is usually seen leading to increased mortality. Alanine aminotransferase [SGPT] is a marker of liver damage. The present study was conducted on Plasmodium falciparum malarial patients to observe the correlation between liver enzymes and bilirubin. To observe the correlation coefficient of bilirubin with liver enzymes [SGPT, SGOT and Alkaline Phosphatase] in patients of falciparum malaria. A Descriptive study. Department of Biochemistry, Basic Medical Sciences Institute, JPMC, Karachi from August 2005 to July 2006. Total 81 patients of different ages and both sexes suffering from acute malaria, were selected by convenient sampling. Nine patients, infected by Hepatitis B and C infections were excluded from the study. Among remaining 72 cases, 48 [70%] were suffering from infection by Plasmodium falciparum and 24 [30%] from infection by Plasmodium vivax infection. The Falciparum infected patients were equally divided into two groups on the basis of duration of illness. Group I having 1- 7days illness and Group II having duration of 8-20 days. Patients suffering from plasmodium vivax infection and illness of 1 - 20 days were placed in Group III. In the group I, SGPT and Alkaline phosphatase showed a statistically significant positive correlation r=0.50 and r=0.054, respectively with bilirubin [P<0.05]. In group II, the SGPT showed a statistically excellent positive correlation [r=0.88; P<0.01], while the SGOT and Alkaline phosphatase also showed a statistically significant positive correlation. In group III both aminotransferases and Alkaline phosphatase showed a statistically significant positive correlation r=0.82, 0.63 and 0.69 respectively. Positive correlation of liver enzymes and bilirubin shows that liver function tests should be performed along with early diagnosis of Plasmodium falciparum malarial infections in order to prevent complications and to reduce mortality