Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-nine Tropical Splenomegaly Syndrome (TSS) patients. 19 males and 20 females, aged 13 to 69 years, with a mean age of 44.4 years, seen over a two-year period, January 1987 to December, 1988, at the consultant Medical Out-patient Clinics of the University of Nigeria Teaching Hospital, Enugu, Nigeria, were retrospectively studied. The aetiopathogenetic basis of the syndrome was briefly reviewed. The implications of the probable extent of this medical problem TSS in the tropics was emphasized. The spectrum of clinical presentation, haematological picture and results of other investigations were reviewed. An attempt was made to possibly distinguish TSS from such other similarly presenting conditions as Hodgkin's Lymphoma, Chronic granulocytic leukaemia and Chronic lymphocytic leukaemia, on clinical grounds and simple laboratory data that can be easily available to the tropical physician. The probable complications of TSS, the ease of treatment and the impressive results of therapy were highlighted. The place of the different antimalarial chemoprophylactic agents in the treatment of TSS was reviewed. Finally, the question of the appropriate duration of therapy for TSS was entertained.
 ...
PMID:Tropical splenomegaly syndrome in Nigerian adults. 163 45

Syndrome of abnormal chromatin clumping in leucocytes syndrome (ACCLS) is an uncommon entity which shares clinical and biological features with the myelodysplastic (MDS) and chronic myeloproliferative syndrome. In fact, as some authors consider ACCLS a new type of MDS, others maintain that it is in Ph'negative/bcr-abl negative chronic myeloid leukaemia. A new case of ACCLS appeared in a 68 year old woman, who presented with anaemic symptoms, bleeding and recurrent infections, and a haematological picture including progressive macrocytic anemia, thrombocytopenia and leuco-erythroblastosis. Marrow hypercellularity with granulocytic hyperplasia, and mature granulocytes presenting nuclear hyposegmentation and large peripheral blocks of chromatin separated by clear zones were the characteristic features of this case. No cytogenetic abnormalities were found and DNA flow-cytometry content was normal (euploid), supporting the thought that a disequilibrium exists in the hetero-chromatin/eucromatin ration in AACLS. Reverse PCR for bcr-abl transcripts was negative. The cell-cycle-phase analysis showed a high fraction of S-cells in the bone marrow (27%) in contrast to a very low S-phase (0.2%) in the peripheral blood, pattern that is different from both CMML and CML. In vitro clonogenic assays showed a high colony forming capacity and a certain grade of autonomous proliferation of the bone marrow cells, which is reminiscent of the CMML growth behaviour in culture. The patient was treated with vitamin D3, low dose Ara-C, prednisone and hydroxyurea until her demise, fifteen months after diagnosis. In total, the patient received 47 units of packed cells and 114 of platelet concentrates, and was transfused only when she presented anaemic or hemorrhagic symptoms. These clinical and haematological features suggest that ACCLS is a distinct entity that should be considered a sixth type of MDS, beside CMML, with which it has much in common.
 ...
PMID:[Syndrome of abnormal chromatin clumping in leucocytes with a high fraction of bone marrow cells in S-phase and in vitro autonomous growth]. 937 66

An isochromosome of the long arm of chromosome 17, i(17q), is the most frequent genetic abnormality observed during the disease progression of Philadelphia chromosome-positive chronic myeloid leukemia (CML), and has been described as the sole anomaly in various other hematologic malignancies. The i(17q) hence plays a presumably important pathogenetic role both in leukemia development and progression. This notwithstanding, the molecular consequences of this abnormality have not been investigated in detail. We have analyzed 21 hematologic malignancies (8 CML in blast crisis, 8 myelodysplastic syndromes [MDS], 2 acute myeloid leukemias, 2 chronic lymphocytic leukemias, and 1 acute lymphoblastic leukemia) with i(17q) by fluorescence in situ hybridization (FISH). Using a yeast artificial chromosome (YAC) contig, derived from the short arm of chromosome 17, all cases were shown to have a breakpoint in 17p. In 12 cases, the breaks occurred within the Smith-Magenis Syndrome (SMS) common deletion region in 17p11, a gene-rich region which is genetically unstable. In 10 of these 12 cases, we were able to further map the breakpoints to specific markers localized within a single YAC clone. Six other cases showed breakpoints located proximally to the SMS common deletion region, but still within 17p11, and yet another case had a breakpoint distal to this region. Furthermore, using chromosome 17 centromere-specific probes, it could be shown that the majority of the i(17q) chromosomes (11 of 15 investigated cases) were dicentric, ie, they contained two centromeres, strongly suggesting that i(17q) is formed through an intrachromosomal recombination event, and also implicating that the i(17q), in a formal sense, should be designated idic(17)(p11). Because i(17q) formation results in loss of 17p material, potentially uncovering the effect of a tumor suppressor on the remaining 17p, the occurrence of TP53 mutations was studied in 17 cases by sequencing the entire coding region. In 16 cases, no TP53 mutations were found, whereas one MDS displayed a homozygous deletion of TP53. Thus, our data suggest that there is no association between i(17q) and coding TP53 mutations, and that another tumor suppressor gene(s), located in proximity of the SMS common deletion region, or in a more distal location, is of pathogenetic importance in i(17q)-associated leukemia.
 ...
PMID:Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. 1038 17

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide scan with a set of highly polymorphic short tandem repeats (STR) was carried out in 17 well-characterized pedigrees and identified a locus for CGL to chromosome 9q34. The maximum two-point lod score obtained was 3.6 at D9S1818 (theta(max) = 0.05). There was evidence for genetic heterogeneity (alpha = 0.73) and 2 of the pedigrees were unlinked. Multipoint linkage analysis excluding the 2 unlinked families yielded a peak lod score of 5.4 between loci D9S1818 and D9S1826. The CGL1 critical region harbors a plausible candidate gene encoding the retinoid X receptor alpha (RXRA) that plays a central role in adipocyte differentiation. Identification of the CGL gene(s) will contribute to our understanding of the adipocyte differentiation and elucidation of the mechanisms of insulin resistance in disorders of adipose tissue.
 ...
PMID:A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. 1048 16

Morning glory disc anomaly (MGDA) is a rare congenital malformation that results from the incomplete formation of the optic nerve in utero. The majority of the patients have unilateral involvement and poor vision leading to sensory strabismus. Morning Glory Syndrome (MGS) may be a part of other syndromes and systemic abnormalities like transsphenoidal basal encephalocele, midfacial malformations, absent optic chiasma, MoyaMoya syndrome, and renal agenesis. In the present report, we describe a patient with a large disc with an excavated posterior scleral opening with a white glial tuft at the centre. The blood vessels were increased in number and arranged radially from the disc with peripapillary hyperpigmentation in clumps. Funnel-shaped excavation of the posterior globe was also noted on MRI. Associated ocular features were microcornea, nystagmus, esotropia, and systemic features included chronic myeloid leukemia- Philadelphia chromosome (CML-PC) and empty sella turcica. We report an unusual association of MGS with CML-PC.
 ...
PMID:An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome. 3311 Aug 85