Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A retrospective study on acute lymphoblastic leukemia (ALL) was conducted to assess the pattern of childhood ALL at the Subdivision of Pediatric of Hematology, School of Medicine, University of North Sumatera/Dr. Pirngadi Hospital, Medan, in a period of 8 years (1980-1988). There were 120 cases, consisting of 63 (52.5%) males and 57 (47.5%) females. By the FAB classification (Bennett, 1976) (77.5%) were found as FAB L 1, 25 (20.8%) as FAB L 2, and 2 (1.7%) as FAB L 3. The youngest was 4 months old. The majority of signs and symptoms appeared in the forms of pallor 102 (85%), fever 84 (70%), hemorrhage 52 (43.3%), hepatomegaly 64 (53.3%), splenomegaly 54 (45%) and lymphadenopathy 18 (15%). On first admission, 76 (63.33%) cases were with a leukocyte count of less than 20,000/microliters, and 72 (60%) with Hb content of less than 5 g/dl. Twenty one cases died in the first year. The received cytostatic protocol; 11 (52.38%) were treated regularly and first remission were found in 8 (72.73%) cases. The average of admissions per year for the age group of 2-8 years was higher than the age groups of 0-2 years and 8-16 years (p less than 0.05).
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PMID:Acute lymphoblastic leukemia in the Department of Child Health, School of Medicine, University of North Sumatera/Dr. Pirngadi Hospital Medan (1980-1988). 179 87

We determined the clinical and biological correlates of coagulopathy in a large series of patients with untreated childhood acute leukemia. Twenty-five of 805 children with acute lymphoblastic leukemia (ALL) (3.1%) and 27 of 195 with acute myeloid leukemia (AML) (13.8%) met any two of three requirements for a coagulation disorder: fibrinogen level less than 150 mg/dL; fibrin degradation products greater than 10 micrograms/mL; and prolongation of prothrombin time (PT) greater than 12 seconds, activated partial thromboplastin time (PTT) greater than 45 seconds, or thrombin time (TT) greater than 18 seconds. Patients with ALL complicated by abnormal coagulation were more likely to be boys and to have a T-cell immunophenotype, a high leukocyte count, a mediastinal mass, leukemic involvement of the CNS, hepatosplenomegaly, and L2 blast cell morphology. These features were highly interrelated, with only T-cell markers and CNS involvement achieving independent significance in a multivariate logistic regression model. Hepatomegaly, blast cell morphological subtype (French-American-British [FAB] M3, M4, and M5) and age less than 2 years were each associated with coagulopathy in patients with AML, although age failed to retain importance after logistic regression analysis. The presence of coagulopathy at diagnosis of ALL did not influence the rate of remission induction (P = .55). By contrast, only 14 of 27 children with coagulopathy at diagnosis of AML achieved a complete remission (CR), compared with 129 of 168 other patients who lacked this complication (P = .003). After multivariate analysis, coagulopathy remained independently associated with failure to attain remission in AML (P = .02). Fatal hemorrhagic complications arising in the CNS or lungs accounted for nine of the 13 induction failures in this group. The presence or absence of coagulopathy had no discernible influence on treatment outcome among patients with either ALL or AML who attained a CR. Laboratory evidence of a coagulation defect may be useful in identifying patients with AML who have a greater risk of induction failure and, hence, require close surveillance and intensive replacement therapy to prevent fatal hemorrhagic complications.
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PMID:The clinical and biological correlates of coagulopathy in children with acute leukemia. 352 66

Review of 5406 children with acute lymphoblastic (ALL) or nonlymphoblastic leukemia (ANLL) registered with Childrens Cancer Study Group (CCSG) since 1972 identified 115 patients (2.1%) with Down syndrome. The proportion of patients with Down syndrome was the same for ALL (2.1%) and ANLL (2.1%). Patients with ALL with and without Down syndrome did not differ significantly with respect to age at diagnosis, sex, race, morphology (FAB classification), cell surface markers, initial white blood cell count, pretreatment hemoglobin value, hepatomegaly, lymphadenopathy, presence of mediastinal mass, CNS disease at diagnosis, or prognostic group as defined by age and initial white blood cell count. Patients with ALL-Down syndrome less frequently had splenomegaly, had lower pretreatment platelet counts, and more often had normal or elevated IgG or IgA levels. In addition, they had a significantly lower rate of remission (81% versus 94%), a higher mortality during induction therapy (14% versus 3%), and a poorer overall survival with 5-year life table rates of 50% versus 65% (P less than 0.001). If an initial remission was achieved, there were no significant differences with respect to remission duration, survival, or disease-free survival. Patients with ANLL-Down syndrome were younger at diagnosis than those without Down syndrome. There was no significant difference in the remission rates between these patients. Analysis of findings in patients with ANLL provided results similar to those obtained for patients with ALL with regard to clinical outcome after achievement of an initial remission.
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PMID:Down syndrome and acute leukemia in children: a 10-year retrospective survey from Childrens Cancer Study Group. 623 37

Congenital leukaemia is a condition occurring very rarely. In a recent review in 1993, 175 cases are reported, 25-30% of them being well documented as leukaemia cutis. We reported a new case of congenital leukaemia diagnosed as an acute non lymphoblastic leukaemia M4 (FAB) and diagnosed at birth. It involves a newborn female at 42 weeks of gestational age. The most relevant clinical features were hepatomegaly and cutaneous petechial lesions along with a generalized distribution of nodules. From the blood peripheral count, leukocytosis is observed (177 x 10(9)/L) with 48% blasts of myeloid immunophenotype. The coagulation studies were consistent with a disseminated intravascular coagulation syndrome. A biopsy carried out on a cutaneous nodule, revealed diffuse dermoepidermic infiltration by immature cells of myeloid lineage, with cellularity and count similar to that of bone marrow and peripheral blood. The karyotype in the peripheral blood was normal. Infectious and immune causes were excluded as well as constitutional illnesses associated with unstable haematopoiesis. The family rejected treatment with chemotherapy and the baby died on day 53 of life due to progressive leukocytosis and concurrent infection. Our case, like 80% of the cases reported, is of myeloid origin and confirms the fatal evolution of untreated congenital leukaemia.
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PMID:[A new case of congenital leukemia with leukemia cutis]. 885 Feb 37

The records of all 96 children below the age of 15 years diagnosed with acute lymphoblastic leukaemia at Tygerberg Hospital in the Republic of South Africa between 1983 and 1995 were reviewed to determine risk factors which may predict poor outcome. Age < 2 and > 8 years, and white cell count > 20 x 10(9)/l at diagnosis were significant predictors of poor outcome. Sex, FAB classification, immunophenotype, hepatomegaly, splenomegaly, BFM risk score, and the presence of mediastinal glands did not predict outcome. The presence of the established risk factors could not adequately explain the difference in 5-year event-free survival in the three ethnic groups which was 67 per cent in white, 17 per cent in black, and 38 per cent in children of mixed ethnic origin. In an attempt to improve survival in black children, our stratification of risk groups will in future be based on factors that include ethnicity, age and WCC > or = 20 x 10(9)/l at diagnosis. Pediatric oncology services in developing countries should adapt therapy to the risk factors of their local populations.
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PMID:An analysis of prognostic variables in acute lymphocytic leukaemia in a heterogenous South African population. 923 36

CD7 antigen, a T-cell lineage associated antigen, is expressed in a minority of patients with acute myeloid leukemia (AML). The biologic and clinical significance of this finding is not clearly established. In this retrospective study of patients with de novo acute myeloid leukemia, we have identified CD7 expression and analyzed its association with markers expressed early in hemopoietic ontogeny and clinical parameters. Among 60 consecutive AML patients, we found six (10%) expressing CD7 on leukemic cells. There were five males and one female and the mean age was 59.6 years (age range: 32-76 years) with no demographic peculiarities. The FAB subtypes were: M0 (2), M1 (1), M2 (1), and M4 (2). CD7 expression was associated with immature antigens CD34, HLA-DR, and terminal deoxynucleotidyl transferase (TdT) and antigen receptor gene rearrangements (rearrangements of T-cell receptor gamma chain in 6/6 and immunoglobulin heavy chain in 2/6). Hepatomegaly was present in three and this was associated with splenomegaly with lymphadenopathy in one patient. Mediastinal or central nervous system involvement was absent. Complete remission was achieved in two patients with standard chemotherapy; one of these is in remission and alive (5 years later), while one died following relapse 9 months later. Three patients had significantly lower response to standard therapeutic regimen (two died during induction and one died 7 months later without ever achieving complete remission). One patient has been excluded in determining the prognostic significance of CD7 due to early death. Our results suggest origin of CD7+ AML from early hemopoietic precursors and indicate biologic aggressiveness in a significant proportion of patients. We suggest evaluation of CD7 in all patients with AML at the time of diagnosis in view of poor clinical outcome.
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PMID:Biologic and clinical significance of CD7 expression in acute myeloid leukemia. 969 90

In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57 are still living. Including 47 siblings who died early in infancy, in total 97 patients died, of whom 30% died within the first week of life and 69% before 1 year. Twenty-eight patients presented in the neonatal period with sudden death, heart beat disorders, or neurological distress with various metabolic disturbances. Hepatic presentations were observed in 73% of patients (steatosis, hypoketotic hypoglycaemia, hepatomegaly, Reye syndrome). True hepatic failure was rare (10%); cholestasis was observed in one patient with LCHAD deficiency. Cardiac presentations were observed in 51% of patients: 67% patients presented with cardiomyopathy, mostly hypertrophic, and 47% of patients had heart beat disorders with various conduction abnormalities and arrhythmias responsible for collapse, near-miss and sudden unexpected death. All enzymatic blocks affecting FAO except CPT I and MCAD were found associated with cardiac signs. Muscular signs were observed in 51% of patients (of whom 64% had myalgias or paroxysmal myoglobinuria, and 29% had progressive proximal myopathy). Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. The diagnosis of FAO disorders is generally based on the plasma acylcarnitine profile determined by FAB-MS/MS from simple blood spots collected on a Guthrie card. Urinary organic acid profile and total and free plasma carnitine can also be very helpful, mostly in acute attacks. If there is no significant disturbance between attacks, the diagnosis is based upon a long-chain fatty acid loading test, fasting test, and in vitro studies of fatty acid oxidation on fresh lymphocytes or cultured fibroblasts. Treatment includes avoiding fasting or catabolism, suppressing lipolysis, and carnitine supplementation. The long-term dietary therapy aims to prevent periods of fasting and restrict long-chain fatty acid intake with supplementation of medium-chain triglycerides. Despite these therapeutic measures, the long-term prognosis remains uncertain.
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PMID:Recognition and management of fatty acid oxidation defects: a series of 107 patients. 1040 81

Several authors have tried to solve the problems in the classification of CMML. A fully suitable classification does not exist. The goal of our study was to determine common and different signs of MD and MP type of CMML and to observe frequency of shifts from MD to MP-CMML. Sixty nine CMML patients were divided according to FAB proposal into two groups: 31 patients into the MD group (WBC < or = 13 x 10(9)/l) and 38 patients into the MP group (WBC < or = 13 x 10(9)/l). Presenting features and the course of the disease in both groups were evaluated. The median age of patients was not different in both groups (71.5 and 74 years, respectively), male/female ratio was 1.1 and 2.4, respectively. The median follow-up time was 15.5 months (1-58.8) in MP group and 24 months (2-118) in MD group. In MP group splenomegaly, hepatomegaly, lymphadenopathy, abnormal karyotype and skin involvement were found more often than in MD group. Median LDH value was higher in MP group. Probability of survival was higher in the MD group than in MP group (median 30 and 11 months, respectively). Leukaemia transformation frequency was similar in both groups. In 12 out of 24 (50%) MD group patients WBC increased during the course of the disease over 13 x 10(9)/l. Oscillation of WBC values below and over 13 x 10(9)/l was observed in three patients. During the follow-up time number of patients with splenomegaly and/or immature granulocytes in the PB increased. After inclusion of 12 patients who shifted from MD to MP group a new CMML group resulted characterised by longer median survival (17 months) due to a higher number of patients in an earlier stage of the disease. Failure of evolution of myeloproliferative signs and lower frequency of AL in the remaining group might be explained by an early stage of CMML, untimely deaths due to unrelated causes and/or by patients suffering of RA with monocytosis rather than of CMML. In summary, our data suggest, that evolution from MD-CMML to MP-CMML is a frequent event and that MD-CMML could be the early stage of CMML in most of cases. The WBC at diagnosis as the single criterion for subclassification of CMML does not seem to be fully justified. We propose that CMML should not be divided in MD and MP types and that monitoring of patients and search for other signs of myeloproliferation such as PB immature granulocytes, splenomegaly, lymphadenopathy, skin involvement, pleural or peritoneal effusions, spontaneous growth of CFU-GM in vitro should be taken in consideration for a better classification of CMML, which would have an impact on the therapeutic approach.
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PMID:Myelodysplastic and myeloproliferative type of chronic myelomonocytic leukemia--distinct subgroups or two stages of the same disease? 1133 23

A retrospective analysis was performed on 263 consecutive patients aged over 60 with de novo acute myeloid leukemia (AML) diagnosed in a single institution between 1979 and 1998. Eighty-nine patients (33%) received only palliative treatment, while 174 patients (67%) were treated with different intensive chemotherapy regimens. The 5- and 10-year overall survival (OS) for the whole series was 7.7+/-1.2 and 4.3+/-1.6%, respectively. For patients receiving chemotherapy, OS was 10.5+/-2.5 and 7+/-2.6%, while for those patients receiving supportive treatment it was 1.1+/-1.1 and 0%, respectively (P=0.002). Within the group of patients receiving chemotherapy, the complete remission (CR) rate was 46%; treatment failure rate was 54% (36% due to treatment-related mortality and 18% due to resistant disease). Variables influencing CR rate were FAB subtype, CD7 positivity, chemotherapy regimen, creatinine level, hepatomegaly, and period of diagnosis. Median disease-free survival (DFS) duration was 8.4 months with a probability of being disease-free at 10 years of 10+/-5%. There were no significant differences in DFS according to age. According to the period of diagnosis (1979-1986 vs. 1987-1998), improvements in the CR rate (27 vs. 56%, P=0.0002), and OS (10.9 vs. 15.7 months, P=0.0007) were observed. This large single-center study of unselected de novo AML elderly patients substantiates the progressive improvement achieved in the management of elderly patients with AML, probably due to an improvement in supportive care and the administration of conventional induction chemotherapy.
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PMID:Recent improvements in outcome for elderly patients with de novo acute myeloblastic leukemia. 1139 74

Twenty-five children (19 M:6 F) with newly diagnosed ALL with median age of 5.5 years (1 month-12 years) were enrolled in the study. Apoptosis regulator proteins bcl-2 and bax were measured in all patients using alkaline phosphatase anti-alkaline phosphatase method. Twenty-one patients were positive for bcl-2 and 23 cases for Bax, although expression levels varied. Patients who presented with splenomegaly or hepatomegaly < 5 cm expressed significantly higher levels of bcl-2 and bax protein expression. Neither of age ( < or >10 years), sex, generalized lymphadenopathy, WBC ( < or >50,000/mul) or FAB subtype was associated with high levels of bcl-2 or bax protein expression. Patients with higher mean hemoglobin levels (p = 0.009), high blast % in bone marrow (p = 0.02), immature immunophenotype (p = 0.001) exhibited signifxicantly higher bcl-2 levels. Bcl-2/bax ratio correlated inversely with TLC at presentation (p = 0.022; r = - 0.456) and in B-lineage leukemic cells as compared to T-lineage cells (p = 0.002). Bcl-2/bax ratio did not correlate with any other variable measured. Bcl-2 and bax protein co-express in ALL and high bcl-2/bax ratio correlates with good prognosis features.
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PMID:Expression of apoptosis regulators Bcl-2 and Bax in childhood acute lymphoblastic leukemia. 1736 91


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