Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe thrombocytopenia, abnormal liver function, and renal dysfunction may occur as manifestations of preeclampsia. Failure to recognize that this cluster of abnormalities represents a form of preeclampsia may result in erroneous initial diagnoses. Management of 13 such patients has shown a direct correlation between the degree of thrombocytopenia and the measures of liver dysfunction. Platelet counts and liver functions improved prior to delivery in five patients treated with corticosteroids. Management should be directed toward investigation and correction of deranged physiology and appropriate monitoring of maternal-feto-placental status. Early delivery is indicated in patients with progressive thrombocytopenia and in those with evidence of fetal maturity or distress. Provided that the disease process remains stable, consideration should be given in cases of fetal immaturity, to the use of betamethasone therapy. The occurrence of severe thrombocytopenia in 20% of neonates should be a consideration in selecting the mode of delivery.
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PMID:Thrombocytopenia in preeclampsia: associated abnormalities and management principles. 647 14

We describe here a series of 88 consecutive patients with bone marrow fibrosis. Primary causes for the fibrosis were discovered in 26% of the cases shortly after the initial diagnosis. Pathology review of the remaining cases revealed an 8% incidence of "hairy cell leukemia" that had escaped detection originally. The remaining cases, characterized as having "unexplained bone marrow fibrosis" or "idiopathic myelofibrosis," are the subject of this study. The clinical and laboratory findings are compared to those reported in previous series of selected cases with similar features in which patients were diagnosed as having "agnogenic myeloid metaplasia," "myelosclerosis," or "myelofibrosis." A brief summary of the treatment modalities used, and the clinical course and outcome of these patients are also presented. There was a marked variability in the clinical severity of the disease and in the survival of these patients. A detailed statistical analysis of 40 variables at the time of initial diagnosis showed that the factors that best predicted a poor survival were unexplained fever, weight loss, night sweats, anemia and thrombocytopenia. On the other hand, the size of the spleen or of the liver, the degree of immaturity of the peripheral blood white cells, and the degree of fibrosis or cellularity in the bone marrow biopsy were of no detectable prognostic significance. These findings suggest that in patients with unexplained fibrosis of the bone marrow (the syndrome of idiopathic myelofibrosis) a poor prognosis is not a direct consequence of the marrow fibrosis or the associated extramedullary hematopoiesis, but rather is related to the presence and/or the severity of some unexplained primary marrow defect, which is also often associated with the nonspecific symptoms of a systemic illness.
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PMID:The syndrome of idiopathic myelofibrosis. A clinicopathologic review with emphasis on the prognostic variables predicting survival. 663 48

Patients with epidemic infections caused by Neisseria meningitidis serogroup C were studied to assess the relationship of abnormal coagulation parameters to prognosis. Patients were categorized into stages within the first hour of observation according to severity of illness. During the epidemic years 1986 through 1991, 113 patients with bacteriologically proven N. meningitidis infection were observed, 15 of whom died. Purpura fulminans was seen in 28 patients, of whom 14 (50%) died. Among the 14 surviving patients who had purpura fulminans, 10 suffered gangrene with deforming autoamputation secondary to the dermal microvascular thrombosis and hemorrhagic necrosis. Evaluation of the induced diffuse intravascular coagulation in 59 patients included studies of the naturally occurring anticoagulants, focusing on protein C and protein S. The magnitude of the declining levels of protein C, the degree of thrombocytopenia, and the presence of fibrin split products are directly related to the clinical severity of the illness (P = .0053). Thus, in individuals with severe disease expression, the risk of purpura fulminans with death or deformity was significantly increased when the platelet count was < 50,000 cells/mm3 (P = .0001) and protein C levels were low (P = .0158). The immaturity of the protein C system in children who are < 4 years of age may contribute to the rapid and more frequent pathogenesis of purpura fulminans. Therapy directed at replacement of the naturally occurring anticoagulants, such as protein C, may ultimately improve the prognosis for individuals with purpura fulminans.
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PMID:Epidemic meningococcemia and purpura fulminans with induced protein C deficiency. 839 77

Cytogenetic analysis of bone marrow cells of a 63-year-old male Caucasian patient with polycythemia vera (PV) who developed anemia, thrombocytopenia, and increased granulocytic immaturity revealed a 47, X,der(Y) t(Y;1)(q12;q12),+9 karyotype. The breakpoint in chromosome 1 appeared to map to q12 and not to q21, as has been described in previous reports without FISH confirmation. In the 4 years before this transition the patient was polycythemic and, accordingly, treated with phlebotomy and three short courses of busulfan. The cytogenetic picture observed has been described before in seven patients: three with PV, three with myelodysplasia, and one with Fanconi anemia. In 5/7 cases, like in our patient, the abnormality was observed during transition of the disease into either myelodysplasia or AML.
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PMID:Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia. 863 Sep 87

Kasabach-Merritt syndrome is characterized by thrombocytopenia and bleeding tendency leading to disseminated intravascular coagulation with giant hemangiomas. We present a very low birth weight infant with this syndrome who underwent four operations. A male baby (1179 g, 37 cm) was born at a gestational age of 28 weeks and 6 days by caesarean section. A large hemangioma, 7 x 8 cm in size, was recognized on the left thigh. As associated consumption coagulopathy (Kasabach-Merritt syndrome) was diagnosed with platelet count 5.1 +/- 10(4) mm-3 and fibrinogen 49 mg.dl-1. Despite treatment with liniac X-ray radiation, systemic steroid and component transfusion, coagulopathy became worse with extremely low platelet count of 1.1 x 10(4) mm-3. Infusion of dopamine and dobutamine was necessary for high output cardiac failure. On day 9, PDA ligation was performed. Cerebro-ventricular drainage, ventricuro-peritoneal shunt and shunt revision were required on day 15, 49 and 88, respectively, for hydrocephalus due to intraventricular hemorrhage. Main anesthetics used were fentanyl and sevoflurane. Major problems encountered by anesthetists were: bleeding tendency, water and electrolyte management, body temperature control, and immaturity and fragility of premature infant. Coagulopathy in Kasabach-Merritt syndrome must be a risk factor for intraventricular hemorrhage, which is a characteristic complication of a very low birth weight infant.
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PMID:[Anesthetic problems in a very low birth weight infant with Kasabach-Merritt syndrome]. 881 2

A 64-year-old woman had been given a diagnosis of Ph-positive chronic myelogenous leukemia (Ph+ CML) in October 1992 and accordingly treated with interferon-alpha busulfan, and hydroxyurea. She was admitted to our hospital with a one-day history of consciousness disturbance on May 30, 1993. Two weeks before admission, she had received chemotherapy consisting of vincristine and predonisolone because of progressive thrombocytopenia, basophilia, and leukocytosis accompanied by a heightened degree of cell immaturity in peripheral blood and bone marrow. Cranial computerized tomography on admission disclosed tumoral masses in the left frontal lobe and the right temporal lobe. Moreover, lumbar puncture ezinkns disclosed blastoid cells in cerebrospinal fluid. Based on these laboratory findings, the diagnosis was blastic crisis CML, 46XX t(9; 22; 17) (q34; q11; q23), cytogenetic aberration and extramedulary brain disease Although the patient underwent the same combined chemotherapy again, her unconsciousness did not resolve. She died of cerebellar herniation on the 7th hospital day. Post mortem examination revealed three extramedullary tumors localized in cranial dura. This was a rare case of CML presenting multiple extramedullary tumors localized in cranial dura.
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PMID:[A case of chronic myelogenous leukemia presenting multiple extramedullary tumors localized in cranial dura]. 1022 30

The problems of immunologic adaptation during the transitional period from intra- to extrauterine life are responsible for the physiologic immaturity of the immune function in newborn infants. In preterm neonates the immunodeficiency is more severe and prolonged and is associated with a higher incidence of infections and sepsis. Furthermore, due to immaturity of the hematologic system, anemia, thrombocytopenia, and neutropenia are frequently observed in very low birth weight infants. The dysregulation of cytokine and hematopoietic growth factor synthesis is an important contributory factor to the complex deficiency of immunologic and hematologic function in the neonate and may explain the reduced incidence of acute graft-versus-host disease observed after cord blood transplantation in children. Human milk is a rich source of most of the cytokines that are reduced in the neonate. Granulocyte colony-stimulating factor, granulocyte-macrophage colony-stimulating factor, and erythropoietin are currently under evaluation in newborn infants with septic neutropenia or anemia of prematurity.
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PMID:Hematopoietic growth factor levels in term and preterm infants. 1022 41

Maternal causes of perinatal thrombocytopenia include neonatal alloimmune thrombocytopenia, autoimmune disorders, intrauterine infections and hypertensive diseases. The diagnosis of these pathologies is difficult because they can occur in sick neonates, but also in healthy babies without a history suggesting illness. The treatment has to be quickly established in order to decrease eventual hemorrhagic complications. These latter can be amplified by several clinical circumstances and especially by the platelet immaturity of this time of life. The risk of recurrence for the next pregnancies has to be determined and can lead to diagnostic or therapeutic measures during the antenatal period.
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PMID:[Perinatal thrombocytopenia of maternal origin]. 1094 93

AML1 (RUNX1) encodes a DNA-binding subunit of the CBF transcription factor family and is required for the establishment of definitive hematopoiesis. AML1 is one of the most frequently mutated genes associated with human acute leukemia, suggesting that genetic alterations of the gene contribute to leukemogenesis. Here, we report the analysis of mice carrying conditional AML1 knockout alleles that were inactivated using the Cre/loxP system. AML1 was deleted in adult mice by inducing Cre activity to replicate AML1 deletions found in human MDS, familial platelet disorder and rare de novo human AML. At a latency of 2 months after induction, the thymus was reduced in size and frequently populated by immature double negative thymocytes, indicating defective T-lymphocyte maturation, resulting in lymphatic diseases with 50% penetrance, including atypical hyperplasia and thymic lymphoma. Metastatic lymphomas to the liver and the meninges were observed. Mice also developed splenomegaly with an expansion of the myeloid compartment. Increased Howell-Jolly body counts indicated splenic hypofunction. Thrombocytopenia occurred due to immaturity of mini-megakaryocytes in the bone marrow. Together with mild lymphocytopenia in the peripheral blood and increased fractions of immature cells in the bone marrow, AML1 deficient mice display features of a myelodysplastic syndrome, suggesting a preleukemic state.
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PMID:AML1 deletion in adult mice causes splenomegaly and lymphomas. 1624 65

Neonatal mysthenia gravis (NMG) is a rare cause of arthrogryposis multiplex congenita (AMC) due to diaplacental transfer of maternal acetylcholine receptors (AChR) antibodies. 2 cases of severe NMG complicated by chronic lung disease and pulmonary arterial hypertension are reported. With respect to the severe course of the index patient, prenatal diagnosis and immunomodulation treatment were offered during the 2nd pregnancy. The combination of prenatal immunoadsorption (IA) therapy, administration of intravenous immunoglobulin (IVIG) and prednisolone failed. Failure may be partly explained by immaturity of the infant. However, considering the successful treatment of fetal/neonatal alloimmune thrombocytopenia (AIT) reported in literature, a treatment approach with IVIG doses up to 1-2 g/kg per week plus prednisone/prednisolone at a higher dose up to 1 mg/kg/d might be more effective.
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PMID:Prenatal immunomodulation treatment in neonatal myasthenia gravis. 2398 40


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