A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation.
Explore the source record for details and available documents.
Child, Preschool↗
Biomedical subjects
P N Rao
Publications and source records attributed to P N Rao.
The human cornea has a high incidence of acquired chromosome abnormalities.
Structurally and functionally, the human cornea is a highly specialized tissue. The corneal stromal collagen matrix is uniquely transparent and yet maintains a mechanically tough and chemically impermeable barrier between the eye and environment. We report for the first time that stromal keratocytes of the human cornea show cytogenetic abnormalities with a frequency that is unprecedented among normal tissues. The abnormalities are acquired, clonal and nonclonal, primarily aneuploid in nature, and present in normal as well as diseased corneas.
Adolescent↗
New synthesis of delta 6-estrogens.
An efficient approach to synthesize delta 6-estrogens is described. The key steps in the synthesis are the introduction of a hydroxyl group at the C-6 position of a suitably protected estrogen using a superbase and subsequent dehydration with Martin sulfurane reagent or methyltriphenoxyphosphonium iodide. The two-step synthetic procedure readily gave the delta 6-estrogens in high yield.
Estradiol Congeners↗
Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases.
Solitary loss of the X chromosome is associated with Turner syndrome and not hematological disorders. We describe five patients with non-constitutional loss of the X chromosome as the sole cytogenetic abnormality in their bone marrow. Three of the five patients had myelodysplastic syndrome (MDS), one case had AML M-6 with evidence suggestive of an evolving MDS, and the last patient had a dysplastic marrow. A review of the literature identified sporadic reports of an association of monosomy X and several hematologic disorders, as well as a few solid tumors. In this series of patients, monosomy X as a sole non-constitutional cytogenetic abnormality in bone marrow is associated with myelodysplastic diseases. In addition, fluorescence in situ hybridization analysis with an X centromere probe indicated that monosomy X was present in erythroid precursors, myeloblasts, promyelocytes, myelocytes, metamyelocytes, granulocytes, and monocytes, while mature lymphocytes presented with two copies of the X chromosome. The molecular cytogenetic evidence supports the diagnosis of a myelodysplastic disorder in these cases and documents the potential role of FISH in hematological disease.
Adult↗
Detection of a dormant 20q- leukemia clone in bone marrow cultures with hematopoietic growth factors: implications for secondary leukemia post-transplant.
A patient developed secondary acute myelogenous leukemia with a 20q- marker chromosome abnormality six years following chemotherapy and radiation for Hodgkins disease (HD). Routine cytogenetics on the bone marrow which had been harvested and cryopreserved immediately following completion of initial therapy for HD showed no cytogenetic abnormality. However, a 20q- clonal marker was detected after culturing bone marrow with hematopoietic growth factors (HGF). The marrow was used successfully for an autotransplant. Post-transplant, the 20q- marker was again detected in HGF cultured samples. The patient relapsed at 165 days post-transplant with the 20q- marker and trisomy 21. These data suggest that standard cytogenetic assays may not detect abnormal clones which can cause leukemia post-transplant.
Acute Disease↗
Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature.
Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5, 6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case, a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6, 7, and 18 [six breaks]. The use of whole chromosome painting helped elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families.
Adult↗
Localization and physical mapping of genes encoding the A+U-rich element RNA-binding protein AUF1 to human chromosomes 4 and X.
Messenger RNAs encoding many oncoproteins and cytokines are relatively unstable. Their instability, which ensures appropriate levels and timing of expression, is controlled in part by proteins that bind to A+U-rich instability elements (AREs) present in the 3'-untranslated regions of the mRNAs. cDNAs encoding the AUF1 family of ARE-binding proteins were cloned from human and murine cDNA libraries. In the present study monochromosomal somatic cell hybrids were used to localize two AUF1 loci to human chromosomes 4 and X. In situ hybridization analyses using P1 clones as probes identified the 4q21.1-q21.2 and Xq12 regions as the locations of the AUF1 genes.
Animals↗
The human PECAM1 gene maps to 17q23.
We have determined the chromosomal and regional location of the gene encoding PECAM-1 (termed PECAM1 by GBD nomenclature) using a polymerase chain reaction (PCR)-based analysis of somatic cell hybrids. Analysis of a somatic cell hybrid chromosome panel established that the PECAM1 gene is on chromosome 17. Interestingly, several adhesion molecules expressed on platelets and endothelium also localize to chromosome 17: the GP1BA locus (glycoprotein (GP) Ibalpha) has been provisionally mapped to the region 17p12-pter, the ITGA2B (GPIIb) and the ITGB3 (GPIIIa) loci have been confirmed to the region 17q21.32; and the ICAM2 locus has been provisionally mapped to the region 17q23-q25. To determine if the PECAM1 locus colocalizes with any of the loci for these adhesion molecules, PCR-based analysis of a regional mapping panel for human chromosome 17 was conducted. We found that the PECAM1 locus is on the long arm of chromosome 17, in the region q23-qter. To confirm this observation and obtain a more precise localization of the PECAM1 locus, fluorescence in situ hybridization was conducted. Together our data allowed assignment of the PECAM1 locus to the region 17q23.
Animals↗
Localization of the ileal sodium-bile acid cotransporter gene (SLC10A2) to human chromosome 13q33.
Explore the source record for details and available documents.
Animals↗
Polymorphism and chromosomal localization of the GI-form of human glutathione peroxidase (GPX2) on 14q24.1 by in situ hybridization.
We have isolated a 3.3-kb DNA containing the two exons and a 2.6-kb intron of the human CPX2 gene. This gene encodes the intestinal isoenzyme of glutathione peroxidase, GSHPx-GI. Consistent signals were detected at 14q24.1 when this DNA was used as a probe for fluorescence in situ hybridization on metaphase chromosomes. Based on either single-stranded conformation polymorphism or sequencing analysis, two sites containing DNA polymorphism were found in the intron: the 5' end had a single A/T alteration, and the 3' end had a microsatellite of TC repeats.
Amino Acid Sequence↗
Analgesic effects of the neurosteroid 3 alpha-androstanediol.
The efficacy of 5 alpha-androstane-3 alpha,17 beta-diol (3 alpha-Androstanediol; 3 alpha-Diol) and 4-pregnen-3,20-dione (progesterone; P) in promoting analgesia was investigated. Ovariectomized rats received daily injections of 3 alpha-Diol (0.6, 3.0, 6.0 and 7.5 mg/kg) or vehicle and twice daily injections of estradiol-17 beta (E2: 1 microgram) for 2 days. Progesterone (0.5, 1.0, 2.0 and 4.0 mg/kg) or its vehicle was given on the third day and nociceptive testing using the radiant heat tailflick method was carried out 4 h later. In Expt. 1, P and 3 alpha-Diol both produced analgesia and had biphasic dose-response effects when administered singly. 3 alpha-Diol (3.0 mg/kg) elevated tailflick latencies in E2-primed animals above those following vehicle, 6.0 or 7.5 mg/kg 3 alpha-Diol; 6.0 and 7.5 mg/kg produced elevations that were greater than vehicle but less than 3.0 mg/kg. Progesterone (0.5 and 1.0 mg/kg) also elevated tailflick latencies above vehicle controls, while 2.0 and 4.0 mg/kg produced intermediate effects. In Expt. 2, 3 alpha-Diol (3 alpha-Diol:BSA) and P (P:BSA) conjugated to bovine serum albumin (BSA) were applied to the medial basal hypothalamus (MBH) and preoptic area (POA) to ascertain whether the steroids' analgesic actions were mediated by membrane actions in these sites. Free P and P:BSA both increased tailflick latencies when applied to the MBH, while 3 alpha-Diol and 3 alpha-Diol:BSA elevated latencies when applied to the POA, suggesting the steroids' effects occur in part at the neuronal membrane. In Expt. 3, free P or P:BSA applied to the MBH did not increase tailflick latencies if systemic P was given concurrently. Similarly, free 3 alpha-Diol and 3 alpha-Diol:BSA implants into the POA failed to increase tailflick latencies if s.c. 3 alpha-Diol was co-administered. These data indicate that P and 3 alpha-Diol at moderate doses have analgesic effects in part via membrane actions within the MBH and POA, respectively.
Administration, Topical↗
Human endopeptidase (THOP1) is localized on chromosome 19 within the linkage region for the late-onset alzheimer disease AD2 locus.
A cDNA encoding the rat endopeptidase 24.15 was used to determine the chromosomal localization of the respective human gene. Hybridization to DNA from human-rodent somatic cell hybrids assigned the human gene to chromosome 19. Fluorescence in situ hybridization on human metaphase chromosomes localized the human endopeptidase 24.15 to 19q13.3.
Alzheimer Disease↗
Kinetics of circulating TNF-alpha and TNF soluble receptors following surgery in a clinical model of sepsis.
The interrelationship between cytokines and their natural antagonists in patients with systemic sepsis are incompletely understood. We have followed the changes in serum levels of TNF-alpha and the two soluble receptors (TNF-sr) in a clinical model of post-operative sepsis. Serial blood samples were taken in patients undergoing percutaneous nephrolithotomy (PCNL) starting pre-operatively and continuing for 24 h thereafter. The levels of TNF-alpha and TNF-sr were raised in patients who became clinically septic and correlated well with the severity of sepsis (using the APACHE III score). In septic patients there was no difference in the pattern of changes in the two types of receptor (TNF-sr55 and TNF-sr75). However, in non-septic patients TNF-sr75 was higher in those with endotoxaemia than those without. This difference was not observed with TNF-sr55 which suggests a different mechanism of release or degree of sensitivity for the two soluble receptors. Regardless of severity of illness, the levels of all three molecules (TNF-alpha and the two receptors) appeared to start rising at about the same time point. The peak TNF-alpha level was reached earlier (2-4 h) than that of the two TNF-sr (4-8 h). The relative rise in TNF-alpha was greater than that of the soluble receptors and this difference was even more marked in those with more severe sepsis. The relationship between peak TNF-alpha and peak TNF-sr was non-linear and the concentration of each TNF-sr appeared to plateau at the higher levels of TNF-alpha. This suggests the exhaustion of a limited pool or saturation of the rate of release. Taken together, these results suggest sepsis develops because of delayed and insufficient secretion of TNF-sr compared with TNF-alpha.
Antigens, CD↗
Progression of a myelodysplastic syndrome to pre-B acute lymphoblastic leukemia: a case report and cell lineage study.
The evolution of acute lymphoblastic leukemia from a myelodysplastic syndrome is a very uncommon event. We describe a 46-year-old man in whom refractory anemia with excess blasts (RAEB) evolved to a pre-B acute lymphocytic leukemia. Trisomy 8 was one of the cytogenetic abnormalities in the dysplastic clone and was detected in both peripheral blood and bone marrow smears of interphase cells by the fluorescence in situ hybridization (FISH) technique. Using a chromosome 8 centromeric specific DNA probe we identified the trisomy 8 to be present in lymphoblasts, erythroid precursors, myeloblasts, promyelocytes, myelocytes, metamyelocytes, granulocytes, and monocytes. Our case supports the hypothesis that in MDS the pluripotent precursor cell is affected, and we examine the potential role of FISH for the study and follow-up of some hematological diseases.
Antigens, Surface↗
Study of clonality in myelodysplastic syndromes: detection of trisomy 8 in bone marrow cell smears by fluorescence in situ hybridization.
The lineage involvement in myelodysplastic syndromes (MDS) is still unclear. To determine the clonality and the evolution of the disorder, a retrospective study on bone marrow smears from seven MDS patients with trisomy 8 was performed using fluorescence in situ hybridization (FISH). We observed that the trisomy of chromosome 8 was selectively expressed in the myeloid-derived cells. No mature lymphocytes or plasma cells expressed three signals. Our studies demonstrate here the value of FISH for identifying the affected cell lineage. Furthermore, the easy quantification of the abnormal cells can help in assessing the progression of the disease.
Aged↗
Usefulness and limitations of serum and urine lysozyme levels in the classification of acute myeloid leukemia: an analysis of 208 cases.
The revised French-American-British (FAB) classification system for acute myeloid leukemia (AML) recommends the determination of serum lysozyme (SL) or urine lysozyme (UL) levels as an aid in distinguishing acute myeloblastic leukemia with maturation (FAB M2) from acute myelomonocytic leukemia (M4). We reviewed retrospectively 208 cases of adult leukemia in which SL and/or UL were obtained. Elevated lysozyme levels were not found in any of the M0, M3, or M7 cases, but were increased (false positive) in three (14%) M1 cases, 18 (19%) M2 cases and one (20%) M6 case. Although a UL value in excess of 3x normal was found in most cases of AML M4 and M5, only five (11%) M4 cases and three (20%) M5 cases had SL elevations of this magnitude. Lysozyme levels need to be interpreted in conjunction with other parameters for FAB classification.
Aged↗
Progesterone and 3 alpha-androstanediol conjugated to bovine serum albumin affects estrous behavior when applied to the MBH and POA.
Ovariectomized rats with cannula over the medial basal hypothalamus (MBH) received implants of 3 alpha-diol conjugated to bovine serum albumin (BSA; 3 alpha-diol:BSA), free 3 alpha-diol diluted with BSA (3 alpha-diol&BSA), progesterone (P) conjugated to BSA (P:BSA), free P diluted with BSA (P&BSA), or BSA alone. 3 alpha-diol:BSA or 3 alpha-diol&BSA facilitated receptivity within 90 min. Other estradiol-treated rats received steroid implants in the preoptic area (POA); those receiving P:BSA or P&BSA showed significant elevations in lordosis in 5 min. When systemic P was given, 3 alpha-diol:BSA and 3 alpha-diol&BSA applied to the MBH or POA inhibited receptivity. When 3 alpha-diol was given systemically, 3 alpha-diol:BSA implants to the MBH and POA produced facilitatory effects. These data suggest 3 alpha-diol can act at the membrane and that these effects are influenced by circulating steroids; yet membrane-mediated actions do not account for all of P-facilitated sexual behavior in the MBH and POA.
Androstane-3,17-diol↗
Isochromosome 12p in two cases of acute myeloid leukaemia without evidence of germ cell tumour.
An isochromosome 12p [i(12p)], typical of germ cell tumours (GCT), has, to date, been observed in 10 cases of acute myeloid leukaemia (AML) or myelodysplastic syndrome, nine of which had concurrent or preceding GCT. We report two i(12p)-positive AML cases without clinical evidence of GCT. One patient with AML-M1 had two i(12p) as the only cytogenetic anomalies. In the other case of AML-M3 with t(15;17)(q22;q11-12) at diagnosis, the i(12p) was clearly a secondary rearrangement since it first appeared at relapse and always accompanied the t(15;17). Our results suggest that i(12p) does not always indicate neoplastic disease of germ cell origin.
Acute Disease↗