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1.
Vox Sang ; 2018 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-29971786

RESUMEN

BACKGROUND AND OBJECTIVES: During storage, red blood cells (RBCs) undergo physicochemical changes which affect the quality, function, and in vivo survival of transfused packed RBCs (pRBC). Changes include decreased 2,3-diphosphoglycerate (2,3-DPG) levels, decreased ATP, changes in mechanical properties and oxidative injury. RBC rejuvenation is a method used to increase levels of 2,3-DPG and ATP in pRBCs. This process requires incubating the pRBCs with a rejuvenation solution and subsequent washing. Standard blood bank protocols using the COBE 2991 Cell Processor require several hours of preparation. The objective of this study was to verify if a bedside protocol for rejuvenating pRBC and washing with the Sorin Xtra autologous cell salvage system could be used. MATERIALS AND METHODS: Outdated pRBC units were obtained and rejuvenated in a model operating suite using a dry air incubator for 1 h at 37°C. Six units of pRBCs were pre-diluted with saline (1000 ml) and six units were not pre-diluted with saline. All units were washed with normal saline (1000 ml) using an apheresis-design cell salvage device in manual mode and wash volume set to 3000 ml. Samples were collected and analyzed for standard RBC quality parameters at baseline and post-wash. RESULTS: Total pRBC wash efficiency was 94% ± 12% at a final hematocrit of 67.7 ± 5.9% while maintaining post-wash hemolysis 0.24 ± 0.12 %. Pre-dilution prior to washing did not confer statistically significant differences in final RBC quality parameters with the notable exceptions of calculated hemolysis and supernatant potassium levels (P < 0.05). The washing process can be completed within 10 min. The post-wash RBC parameters are appropriate for immediate transfusion to patients.

3.
Plant Physiol ; 113(4): 1041-50, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9112767

RESUMEN

A 94-kD protein that accumulates predominately in tomato (Ly-copersicon esculentum) fruit during ripening was purified, and antibodies specific for the purified protein were used to isolate cDNA clones from a red-ripe fruit cDNA library. A sequence analysis of these cDNAs and cross-reactivity of the 94-kD-specific antibodies to the soybean lipoxygenase (LOX) L-1, L-2, and L-3 proteins and soybean LOX L-1-specific antibodies to the 94-kD protein identified it as a member of the LOX gene family. Maximum levels of the 94-kD LOX mRNA and protein are present in breaker to ripe and red-ripe stages, respectively. Expression of 94-kD LOX in different tissues from mature green and red-ripe tomato fruits was found to be greatest in the radial walls of ripe fruit, but immunocytolocalization using tissue printing suggests that the highest accumulation of its protein occurs in locular jelly. None of 94-kD LOX is expressed in nonripening mutant fruits of any age. Never-ripe mutant fruit accumulate the 94-kD LOX mRNA to levels similar to those obtained in wild-type fruit, but fail to accumulate the 94-kD LOX protein. Collectively, the results show that expression of 94-kD LOX is regulated by the ripening process, and ethylene may play a role in its protein accumulation.


Asunto(s)
Lipooxigenasa/biosíntesis , Familia de Multigenes , Filogenia , Solanum lycopersicum/fisiología , Clonación Molecular , ADN Complementario , Biblioteca de Genes , Genotipo , Lipooxigenasa/aislamiento & purificación , Solanum lycopersicum/genética , Datos de Secuencia Molecular , Mutación , Proteínas Recombinantes/biosíntesis , Proteínas Recombinantes/aislamiento & purificación
5.
Neuromuscul Disord ; 2(2): 111-5, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1422197

RESUMEN

The clinical features to establish the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD) were recently redefined at the European EMD workshop in Baarn 1991. These criteria were used to select families from the literature and two new families for linkage analysis with the DNA markers F9, DX52, DXS15, F8C and DXS115. Recombinations are observed with the DNA markers F9, DXS52 and DXS15. No recombinations were found with F8C and DXS115. Multipoint linkage analysis indicates with a maximum location score of 73.9 that the EMD locus maps very close to F8C.


Asunto(s)
Ligamiento Genético/genética , Distrofias Musculares/genética , Cromosoma X , Adulto , Preescolar , Mapeo Cromosómico/métodos , Humanos , Escala de Lod , Masculino , Distrofia Muscular de Emery-Dreifuss , Linaje , Programas Informáticos
6.
Genomics ; 10(3): 765-9, 1991 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-1889818

RESUMEN

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic.


Asunto(s)
Cromosomas Humanos Par 19 , Hipertermia Maligna/genética , Enfermedades Musculares/genética , Alelos , Mapeo Cromosómico , Sondas de ADN , Genes , Marcadores Genéticos , Humanos , Escala de Lod , Receptores Colinérgicos/genética , Canal Liberador de Calcio Receptor de Rianodina
7.
Hum Genet ; 86(3): 317-8, 1991 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-1997389

RESUMEN

Two recent articles have reported the linkage of a gene for recessive spinal muscular atrophy (SMA) on the chromosome region 5q11.2-13.3. Our data show no linkage of the dominantly inherited forms of SMA to this chromosome region.


Asunto(s)
Cromosomas Humanos Par 5 , Genes Dominantes , Ligamiento Genético , Atrofia Muscular Espinal/genética , Mapeo Cromosómico , Femenino , Marcadores Genéticos , Humanos , Masculino , Recombinación Genética
8.
Cell Struct Funct ; 15(3): 151-7, 1990 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-1697788

RESUMEN

Distamycin A, netropsin and berenil are known to cause undercondensation of heterochromatic regions of metaphase chromosomes. These ligands interfere with DNA curvature by binding to the minor groove of the DNA. Whereas the effects of these ligands upon chromatin structure are well established, little is known about their possible interference with cell cycle progression. We show that the presence of these DNA-ligands causes protracted cell growth consisting of a prolongation of the G1 phase of the cell cycle along with arrest in the G2 compartment. Concomitant with these cell kinetic disturbances the DNA ligands cause increased polyploidisation. These observations suggest that the DNA-minor groove may play an important role in progression through the G2 phase and proper mitotic transit.


Asunto(s)
Amidinas/farmacología , ADN/efectos de los fármacos , Diminazeno/farmacología , Distamicinas/farmacología , Guanidinas/farmacología , Netropsina/farmacología , Pirroles/farmacología , Bisbenzimidazol , Bromodesoxiuridina/metabolismo , Diminazeno/análogos & derivados , Fibroblastos/efectos de los fármacos , Citometría de Flujo , Humanos , Técnicas In Vitro , Interfase/efectos de los fármacos , Poliploidía
9.
Am J Med Genet ; 31(4): 981-5, 1988 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-3239587

RESUMEN

We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.


Asunto(s)
Cromosomas Humanos Par 15 , Cromosomas Humanos Par 8 , No Disyunción Genética , Trisomía , Adolescente , Femenino , Marcadores Genéticos , Humanos , Translocación Genética
10.
Am J Med Genet ; 31(2): 415-20, 1988 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-3068990

RESUMEN

We report on a 23-yr-old healthy female with repeated miscarriages and a de novo complex chromosomal rearrangement (CCR) involving chromosomes 1, 2, 5 and 11 with 5 breakpoints. A review of cases reported in the last five yr is provided.


Asunto(s)
Aborto Habitual/genética , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Femenino , Humanos , Cariotipificación , Embarazo
11.
Ann Genet ; 31(3): 193-4, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-3265611

RESUMEN

A de novo deletion 1q42.3----qter in a 10-month-old girl with psychomotoric retardation and multiple dysmorphic signs is reported. The patient's symptoms are in accordance with a recently described distal 1q deletion syndrome.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 1 , Trastornos Psicomotores/genética , Adulto , Células Cultivadas , Bandeo Cromosómico , Femenino , Humanos , Recién Nacido , Cariotipificación , Linfocitos/citología , Masculino , Síndrome
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