Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.

Diamond Black fan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count (Anaemia). The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anaemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones and a couple of congenital deformities. Haematological parameters showed elevated foetal haemoglobin level (Hb F – 11.8% ) and elevated serum TSH (thyroid stimulating hormone) level. Peripheral blood picture showed gross microcytic hypochromic red blood cells and absence of reticulocytes with normal levels of leucocytes and platelets. A bone marrow showed gross suppression of Erythroid series with M:E ratio of 30:1. Some large pronormoblasts were found. Family history was not significant. Compiling the clinical features, haematological parameters, PS and bone marrow findings, a diagnosis of DBA was given.

Pattern of Leukaemias in a Tertiary Care Hospital - A 5 Years Retrospective Study of 103 Cases.

Objective: To study the distribution of various types of leukaemia in the RIMS Hospital in terms of types, age, sex and among various ethnic groups. Material and Method: It’s a retrospective study carried out in the department of Pathology, Regional Institute of Medical Sciences (RIMS) Hospital over a five years period between November 2006 and October 2011. Diagnosis was based on peripheral blood count, peripheral blood smear and bone marrow examination for morphology along with cytochemistry study whenever required. FAB classification is followed in the study. SPSS software package, version 16, was used for statistical analysis. Result: Out of total 103 cases, 49cases (47.6%) were children and adolescents and 54 cases (52.4%) were adults. Age range was 9 months to 79 years with a mean age of 31.2 years. Among the children and adolescents, 30 cases were males and 18 cases were females (M: F ratio 1.7:1). In the adults 34 cases were males and 21 cases were females with M: F ratio 1.6:1. Overall male female ratios was 1.6:1. Out of 103 cases, 85.4% were of of acute leukaemia and rest were chronic leukaemia (14.6%). Acute leukaemia was the most common leukaemia in all age groups. Of all leukaemia cases reported, maximum cases were of acute myeloid leukaemia (AML). Acute lymphoblastic leukaemia (ALL) is the most common type of leukaemia in the children (60.7%) and adolescents (52.3%). AML (66.7%) is the most common acute leukaemia in adults. Among ALL, L2 is the most common variant (82.3%) and in AML, M3 is the most common (38.8%). Chronic leukaemia was more common in adult (80%) than children and adolescents. Out of total 12 cases of the chronic leukaemia reported in adults, 10 were of chronic myeloid leukaemia (CML), 2 were chronic lymphocytic leukaemia (CLL). The maximum cases of leukaemia were among Meitei community (64%) followed by tribal community (28%) and minimum in Muslims (8%). Conclusion: In this study, acute leukaemia was the most common leukaemia in all age groups. Of all leukaemia cases reported, maximum cases were of AML and minimum cases were of CLL. Chronic leukaemia was more common in adult. In children, majority of cases were ALL and chronic leukaemia was rare. Leukaemias were more common in males. Meitei community was affected the most.

Octaploidy in idiopathic thrombocytopenic purpura.

We report a case of an elderly 68-year-old male who presented in our hospital with chief complaints of petechial rashes and ecchymosis over extremities and bleeding from the oral cavity since 3–4 days prior to hospitalization. He saw a physician before coming to our hospital and received one dose of IV methylprednisolone and oral wysolone. He had come to our hospital for further management. Bone marrow karyotyping was done and chromosomal analysis revealed two cell lines. Eighty percent of the cells analyzed revealed apparently normal male karyotype. However, 20% cells analyzed revealed a total of 184 chromosomes, suggesting octaploidy.

mutagenic effect of khat and the protective effect of vitamin C.

Khat [Catha edulis Forsk], is the a flowering evergreen tree or large shrub, which grows in the Horn of Africa and southwestern Arabia. Vitamin C. is one of the available, famous and cheapest antioxidants. The present experimental animal study is designed to observe the mutagenic changes due to chewing fresh khat, and the possible protective effect of vitamin C. Thirty mice were used in this study, they were divided into three groups; the first one [10 mice] was given khat extract intra gastric as a single daily dose for thirty days, the second group [10 mice] was given khat extract and vitamin C. by the same route dose, and period, the third group was considered as a control group, it was given distilled water by the same route and period. The animals were sacrificed after the designated period, the bone marrow were extracted from the femora, and prepared for microscopic examination [chromosomal study and micronuclei level]. generally there is slight decrease of the body weight, the chromosomal study revealed decrease of the mitotic index, deletion type of structural aberration, and increase in the micronuclei level. The protective effect of vitamin C. is evident by the increase of the mitotic index, decrease percentage of the detected aberration and micronuclei level

Expression of some apoptosis-controlling proteins in children with acute lymphoblastic leukemia

The aim of this study was to determine the serum levels of some apoptosis-controlling proteins [Bcl-2 and soluble Fas] in children with acute lymphoblastic leukemia [ALL], and to find out the relation between their expression and the clinico-laboratory parameters as well as outcome of the disease. The study included 20 children with ALL [13 males and 7 females], their age ranged from 0.5-13 years. Twelve apparently healthy children were included as a control group. Cases and controls were subjected to full history taking, thorough clinical examination, and determination of serum levels of Bcl-2 and soluble Fas proteins [sFas], and complete blood picture [CBC]. Bone marrow examination, CSF examination, immunophenotyping, and radiological evaluation were done for cases only. One-year follow-up of cases was performed for evaluation of the prognosis and the outcome of the disease. The results showed that serum levels of Fas and Bcl-2 were significantly elevated in patients with ALL when compared to control [P: 0.007 and P: 0.003 respectively]. Serum levels of sFas were significantly elevated in cases with CNS involvement compared to those without CNS involvement [p <0.01], in cases with white blood cell count >50.000/mm[3] in peripheral blood compared to those having lower cell counts [p<0.05], and in patients with T cell lineage compared to those with B lineage [p<0.01]. Serum levels of Bcl-2 were not significantly different as regard these parameters. Serum levels of Bcl-2 were significantly lowered after treatment [P<0.001], while serum sFas didn't differ significantly before and after treatment. Levels of sFas and Bcl-2 were higher in ALL patients resistant to induction chemotherapy compared to those showing complete remission, but the difference did not reach the level of significance. Our study shows that 1] increased serum expression of Bcl-2 and soluble Fas [sFas] can be demonstrated in children with ALL. 2] increased expression of sFas [but not Bcl-2] has been found to be associated with certain unfavorable prognostic features such as T-lineage ALL, CNS involvement, and higher WBCs count and 3] the higher levels of sFas and Bcl-2 in these cases were not associated with poor response to therapy

Over expression of Wilm's tumor gene 1[WT1] in Iranian patients with acute myeloblastic leukemia

The Wilm's tumor gene 1 [WT1] encodes a zinc finger transcription factor that is inactivated in a subset of Wilm's tumors. It plays a crucial role in growth, proliferation and development of some embryonic and adult organs. WT1 is expressed as a tumor associated antigen [TAA] in various types of solid and hematopoietic malignancies and can be employed as a useful marker for targeted immunotherapy and monitoring of minimal residual disease [MRD]. To investigate the profile of WT1 gene expression in Iranian patients with acute myeloblastic leukemia. RT-PCR method was used to determine the WT1 gene expression in bone marrow [BM] and/or peripheral blood [PB] samples from 11 patients with AML and PB samples of 36 normal subjects. Isolated cells from all patients were immunophenotyped by flow cytometry. The leukemic cells from 10 patients [91%] were found moderately or strongly positive for WT1 expression whereas only 3 out of 36 normal subjects expressed WT1 at very low levels. A highly significant correlation was observed for WT1 expression between paired BM and PB samples of the AML patients. Our results indicate that WT1 is expressed in the majority of Iranian AML patients and may be employed for screening and monitoring of minimal residual disease in these patients

CD79a in cases of acute leukemia

Immunoglobulins IgM and IgD on the plasma membrane of B lymphocytes lack a cytoplasmic region of sufficient size to react with other molecules in order to transmit a signal through these cells. It has been demonstrated that a dimeric molecule with a substantial intra-cytoplasmic region named CD79 is physically associated with membrane Igs and helps to initiate intracellular signaling. The two component polypeptide chains of this dimeric molecule have been designated CD79 alpha C [mb-1] and CD79 beta 3 [B29]. The aim of the present work was to study the value of CD79alpha as a diagnostic marker in cases of acute leukemia. Our patients were classified into 2 groups, group I included 20 patients with ALL and group II included 20 patients with AML. Immunophenotyping of the leukemic blasts was carried out using flow cytometry and CD79 alpha was studied. We found that 91.7% of our B-lineage ALL cases were positive for CD79 alpha. Also, CD19 was positive in 100% and CD22 in 75%. All of our T-ALL cases were negative for CD79 alpha and only one case of AML showed positive CD79 alpha expression [5%]. The sensitivity of CD 79 alpha in the diagnosis of B-ALL among all of our ALL patients was 91.7%, the specificity was 100%, the positive predictive value [PPV] was 100% and the negative predictive value [NPV] was 88.9%. The sensitivity of CD79 alpha in the diagnosis of B-lineage ALL among all of our acute leukemia patients was 91.7%, the specificity was 96.4%, the PPV was 91.7% and the NPV was 96.4%

Erythropoietic response to androgen replacement therapy Erythropoietic and role of IL-6 in aging male rats

Changes in iron status and bone marrow Junctions are frequently observed in the elderly. These phenomena are often associated with chronic diseases and/or neoplcfsmas. In a minority of elderly subjects; it is not possible to identify the causes of anemia. This study was carried out to clarify the functional capacity of the erthropoietic tissues of the aged rats, to investigate the role of IL-6 in erthropoietic activity, and to evaluate the short-term testosterone therapy. Thirty healthy male Sprague-Dawley rats were divided according to their age into group I [16-week-old; n = 6], group II [48-week-old; n=12], group III [72-week-old; n=I2]. Six rats enrolled in each elderly group [groups II and III] received s.c. testosterone propionate; 2 mg/100 g body weight every other day for 10 days [Groups lIb and Illb]. The remaining rats not received testesterone were named groups [Ila and IlIa]. One day after the last injection, bone marrow aspirates were performed to evaluate the erthropoietic activity and iron stores in the erythroid precursors. In addition, a peripheral haemogram and determination of serum levels of iron, TIBC, IL-6, and free testosterone were done. Significant age-linked changes were observed in the form of decreased serum levels of free testosterone, IL-6, TIBC, RBCs count, and Hb levels as well as an increase in serum iron level in groups Ila and IIla. Bone marrow hypocellularity with a decrease in the amount of iron storage were especially remarkable in Group IlIa. Moreover improvement in the function of erythropoietic tissues in Group lib indicated by erythroid hyperplasia and an increase in the amounts of iron storage. However, reduced serum IL-6 was not affected by testosterone therapy. These data reveal that senile anemias are of hypoproliferaitue character. Testosterone and IL-6 may be, at least in part, the important factors in determining an age-associated decrease in erythropoiesis

Efecto del tratamiento sobre lo crecimiento de colonias gránulo-monocitarias en la médula ósea de pacientes con policitemia vera / Effect of treatment on the growth of monocyte-granulocytic colonies in bone marrow of patients with polycythemia vera

Se cultivó en agar semisólido la médula ósea de 15 pacientes con policitemia vera (PV) con el propósito de conocer la acción del tratamiento sobre el crecimiento de las colonias gránulo-monocitarias. Tres de los enfermos no habían recibido ningún tipo de tratamiento previo al estudio, 6 habían tenido como única terapéutica flebotomías seriadas y 6 solamente P a la 32. Se observó que en los enfermos sin tratamiento previo, el número de colonias fue similar al control. En los pacientes tratados con flebotomías el número de colonias fue menor que el control, pero sin diferencia significativa. Los cultivos de médula ósea en los casos tratados con P a la 32 mostraron una reducción marcada en el número de colonias que fue significativa con respecto al control (p < 0,005). Ninguno de los enfermos presentaban leucocitosis, ni hiperplasia granulopoyética. Se consideró que la disminución de colonias en los pacientes tratados con flebotomías refleja un tránsito de los progenitores granulopoyéticos de médula ósea hacia la sangre periférica, por el estrés que se produce en la hemopoyesis como consecuencia de las flebotomías. En cuanto a los enfermos tratados con P a la 32, todo parece indicar que el radionúclido inhibe la población de progenitores granulopoyéticos, sin que se produzca una disminución en el compartimiento de las células precursoras

Bone marrow dose from radiation treatment of cancer bladder

In this study the active marrow dose is calculated and measured for patients treated from cancer. Bladder represents the highest incidence among the other cancers in Egypt [21%] and where the pelvic region contains about 40% of the total active bone marrow in human body of age 40 years. Thermoluminescent dosimeters were used to measure the active marrow dose from two different techniques usually used in treating cancer bladder

Determinaçäo dos níveis das proeteínas no aspirado da medula do ilíaco no câncer da próstata / Determinations of lelvels of bone marrow proteins in prostatic cancer

Os autores relatam os resultados inciais da determinaçäo dos níveis das proteínas no aspirado da medula do osso ilíaco, em portadores de câncer da próstata