Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 15-year-old boy with non-T ALL in early 2nd remission was autografted using a regimen with busulphan 4 mg/kg/day, po, from day -9 to -6, and cyclophosphamide 50 mg/kg/day, iv, from day -5 to -2. During busulphan administration he experienced a few generalized seizures, and starting on day 25 post ABMT he developed a progressively severe neurological symptomatology characterized by nystagmus, right VIth cranial nerve palsy, truncal ataxia and, finally, confusion and coma. MRI showed lesions in the periaqueductal gray matter, thalamus, mammillary bodies and putamen. Within 24 hours of treatment with thiamine he improved dramatically, but during the following weeks permanent neurologic damage with memory deficit, truncal ataxia and nystagmus became evident. To our knowledge this is the first case of Wernicke's encephalopathy reported after BMT. We suspect in this case a contribution of busulphan to the development of the syndrome.
 ...
PMID:Wernicke-like encephalopathy after autologous bone marrow transplantation. 222 27

Between July 1991 and January 1994, 52 patients with hematologic malignancies underwent BMT using BU/CY2 as conditioning regimen. Median patient age was 38 years. Eleven patients underwent autologous BMT, 22 HLA-identical allogeneic BMT, and 19 patients underwent a MUD or an allogeneic mismatched BMT. GVHD prophylaxis was with cyclosporine/methylprednisone in 26 patients; T cell depletion was used in 15 patients. VOD was observed in 7.5% of patients, IP in 12%, seizures in 4%. The overall incidence of grade II-IV acute GVHD was 35%. Delayed platelet engraftment was observed in seven of 11 patients who underwent autologous BMT. Graft failure was seen in seven of 19 (37%) patients who underwent MUD or allogeneic mismatched BMT. Six of the seven patients received T cell depletion as GVHD prophylaxis. BU/CY2 transplantation from an unrelated or family-mismatched donor with T cell depletion is associated with a high incidence of graft failure.
 ...
PMID:Toxicity of busulfan and cyclophosphamide (BU/CY2) in patients with hematologic malignancies. 870 82

Two patients, one each with LINCL and JNCL, underwent BMT in an attempt to alter the course of their disease. The LINCL patient received two transplants, one when asymptomatic, which was rapidly rejected, and a second BMT at age 3 years 9 months when the EEG had become abnormal. He has deteriorated in the following 2 years and now has only a few words, limited vision and feeding difficulties. Only two major seizures have occurred, but minor seizures are frequent. Although he is less severely affected than his sister at the same age, it is difficult to know if BMT has had any effect. The most significant difference is the relative mildness of seizure activity. The JNCL patient, transplanted at 8 years, when her visual problems had already started, is still in mainstream school, has good speech and good quality of life at age 9 1/2 years. No regression has been found, but EEG changes are now present and her vision has further deteriorated. The effect of BMT, if any, will not become apparent for several years in the more slowly progressive JNCL.
 ...
PMID:Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. 915 32

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease of infancy and young childhood. The clinical presentation includes recurrent unexplained fever with hepatosplenomegaly. Cytopenia, hypofibrinogenemia and/or hypertriglyceridemia and hemophagocytosis in bone marrow, spleen and lymphnode confirm the diagnosis. Hemophagocytosis may not be present at the beginning. In these cases, diagnosis is facilitated by a positive family history, a relapsing course of the disease, the frequent involvement of the central nervous system and positive findings on immunological work-up. Treatment by chemotherapy and immunosuppressants can achieve sustained remissions in most patients and reinduction of remission after relapse is possible. Most children however, eventually die from progressive disease. At present, allogeneic bone marrow transplantation is the only curative therapeutic option. Between August 1992 and May 1997 eleven consecutive patients with HLH received bone marrow from unrelated (n = 7) or matched sibling donors (n = 4). The conditioning regimen consisted of busulfan, VP-16 and cyclophosphamide. Patients engrafted after a median time of 16 days (13-43). Only one patient developed grade III acute GVHD, another patient, grade II acute GVHD. Although regimen-related toxicity was extensive, all patients have survived without signs of HLH after a median follow up of 20 months (8-63). One patient suffers from chronic GVHD, three patients reveal psychomotoric retardation and one patient has severe impairment with spastic tetraparesis, amaurosis and seizures. Our experience shows that HLH can be successfully treated by allogeneic BMT from unrelated donors.
 ...
PMID:[Treatment of hemophagocytic lymphohistiocytosis, HLH, with bone marrow transplantation]. 974 50

Neurological complications may occur in BMT recipients (11-59%), frequently contributing to morbidity or mortality. They are the main causes of death in 10-15%. Life-threatening neurological complications were seen in 11 out of 113 (9.7%) children who underwent BMT from HLA-matched family (n=7) or mismatched donors (n=4) at our institution. Diagnoses of patients with neurological complications were acute myeloblastic leukemia (AML) (five), thalassemia major (two), Fanconi anemia (two), Omenn syndrome (one) and leukodystrophy (one), and the neurological events were seen between days +13 and +85 after transplantation. Minor symptoms including reversible, nonrepetitive seizures were excluded. Cyclosporine A toxicity was diagnosed in six children. The rest of the complications were brain abscess/meningoencephalitis (two), severe hypomagnesemia (one), busulfan toxicity (one), sustained hypertension (three), and intracranial hemorrhage (three). Six patients with neurological complications suffered from >grade II graft-versus-host disease (GvHD), and all were high risk for transplant-related complications. In this study, risk status of the underlying disease, mismatched transplantation, a diagnosis of AML (advanced stage), older age and >grade II GvHD were important adverse factors for the development of severe life-threatening neurological complications.
 ...
PMID:Life-threatening neurological complications after bone marrow transplantation in children. 1553 98

Previously, we reported the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) as an underestimated complication associated with SCT. In the present report, we analyzed detailed data on a larger number of patients with SIADH following SCT and found different SIADH clinical features following cord blood SCT (CBSCT) and BMT/PBSCT. The median onset of SIADH following CBSCT and BMT/PBSCT was 19 and 46 days after SCT, respectively, and the median numbers of WBC at the onset of SIADH were 1.0 and 3.1 x 10(9)/l, respectively. Furthermore, severe symptoms such as seizures, somnolence and rigidity of limbs were observed only in patients with CBSCT (8/15 vs 0/10). These differences were statistically significant (P<0.01). Although the precise basis for SIADH following SCT still remains unknown, the different features of SIADH observed following CBSCT and BMT/PBSCT may provide important clues to the disease mechanism following SCT. Additionally, we confirmed our previous results that patients with SIADH showed a higher overall survival and event-free survival rates. However, we first suggested that they had some neurological disorders and that neurological sequelae such as developmental delay and seizures would consequently occur.
 ...
PMID:The syndrome of inappropriate secretion of antidiuretic hormone associated with SCT: clinical differences following SCT using cord blood and BM/peripheral blood. 1871 42

Epilepsy is a kind of neurogenic diseases with high prevalence and characterized by seizure, brain paradoxical discharge and convulsion in spontaneous, transient, recurrent and uncontrolled manner. Development of new anti-epilepsy drugs requires a new reliable and high-performance animal models in screening of leading compounds. In this study, an epilepsy model in larval zebrafish was established using pentylenetetrazole (PTZ) compound. The results show that PTZ induced epilepsy-like seizure behavior such as irregular circular swimming, exciting locomotion, high swim velocity and convulsion in zebrafish. Expression patterns of two epilepsy-related gene c-fos and lgi1 were analyzed using RT-PCR and in situ hybridization; c-fos was enhanced and extended and lgi1 expression was reduced in PTZ concentration-dependent in the larval brain. When the model larvae exposed to anticonvulsant valproate(VPA), the epilepsy-like symptom decreased or disappeared, the marker genes c-fos and lgi1, as well as NeuN protein recovered to the normal levels. These responses to PTZ and to antiepileptic drug VPA are consistent with the observations in clinical studies and mouse models. Using this model, we evaluated anti-epilepsy activity of compounds Y53 and BMT, two homolog of berberine. The results show that the model larvae seizure triggered by lighting was partly remedied by Y53; and the larval exciting locomotion under the condition of no stimulation was suppressed by BMT. The findings indicate that the zebrafish larval epilepsy model is able to distinguish compounds with different activities in eleptiform seizure. We conclude that the zebrafish epilepsy model may be as a reliable and useful platform in screening of new anti-epilepsy candidates, which is suitable for basic research in epilepsy pathogenesis.
 ...
PMID:[Establish and use of an epilepsy model in larval zebrafish]. 2985 27