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1.
Biocell ; 25(2): 155-66, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11590891

RESUMO

Two patients, one adult male and one infant girl, bearing different X-autosome translocations, were studied with cytogenetical, ultrastructural and chromosome-painting techniques. The adult male, is a carrier of a reciprocal, balanced translocation involving the X and #2 chromosomes: 46,Y,t(X;2) (q13;p21). This man showed infertility with spermatogenesis arrest at the spermatocyte stage. Synaptonemal complex analysis at pachytene showed the quadrivalent structure and the putative breakage points. Sex-chromatin condensation did not spread towards the autosomal regions of the quadrivalent. The female infant showed diminished body growth and multiple somatic anomalies. She is a 45,Xp-,t(X;21)(p11;p13) carrier, an unbalanced translocation involving chromosomes X and #21, which leads to a monosomy of almost all Xp. The translocated #21 is practically complete, and its centromere is the active one in the rearranged product. The analysis of interphase nuclei with the X-centromere probe shows that the Xq region of the rearranged chromosome is the late -replicating and inactive element. However, X-inactivation does not spread to the attached #21, as shown by the R-banding pattern. Thus, both in the male adult and in the female infant there is a barrier to the spreading effect of X-chromosome inactivation, which is probably due to different mechanisms.


Assuntos
Cromossomos Humanos Par 21/genética , Mecanismo Genético de Compensação de Dose , Translocação Genética , Cromossomo X/genética , Adulto , Pré-Escolar , Cromossomos Humanos Par 21/ultraestrutura , Feminino , Humanos , Masculino , Meiose , Espermatócitos/ultraestrutura , Cromossomo X/ultraestrutura
2.
Biocell ; Biocell;25(2): 155-166, Aug. 2001.
Artigo em Inglês | LILACS | ID: lil-335878

RESUMO

Two patients, one adult male and one infant girl, bearing different X-autosome translocations, were studied with cytogenetical, ultrastructural and chromosome-painting techniques. The adult male, is a carrier of a reciprocal, balanced translocation involving the X and #2 chromosomes: 46,Y,t(X;2) (q13;p21). This man showed infertility with spermatogenesis arrest at the spermatocyte stage. Synaptonemal complex analysis at pachytene showed the quadrivalent structure and the putative breakage points. Sex-chromatin condensation did not spread towards the autosomal regions of the quadrivalent. The female infant showed diminished body growth and multiple somatic anomalies. She is a 45,Xp-,t(X;21)(p11;p13) carrier, an unbalanced translocation involving chromosomes X and #21, which leads to a monosomy of almost all Xp. The translocated #21 is practically complete, and its centromere is the active one in the rearranged product. The analysis of interphase nuclei with the X-centromere probe shows that the Xq region of the rearranged chromosome is the late -replicating and inactive element. However, X-inactivation does not spread to the attached #21, as shown by the R-banding pattern. Thus, both in the male adult and in the female infant there is a barrier to the spreading effect of X-chromosome inactivation, which is probably due to different mechanisms.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adulto , Cromossomos Humanos Par 21 , Mecanismo Genético de Compensação de Dose , Translocação Genética , Cromossomo X , Cromossomos Humanos Par 21 , Meiose , Espermatócitos , Cromossomo X
3.
Biocell ; Biocell;25(2): 155-166, Aug. 2001.
Artigo em Inglês | BINACIS | ID: bin-6440

RESUMO

Two patients, one adult male and one infant girl, bearing different X-autosome translocations, were studied with cytogenetical, ultrastructural and chromosome-painting techniques. The adult male, is a carrier of a reciprocal, balanced translocation involving the X and #2 chromosomes: 46,Y,t(X;2) (q13;p21). This man showed infertility with spermatogenesis arrest at the spermatocyte stage. Synaptonemal complex analysis at pachytene showed the quadrivalent structure and the putative breakage points. Sex-chromatin condensation did not spread towards the autosomal regions of the quadrivalent. The female infant showed diminished body growth and multiple somatic anomalies. She is a 45,Xp-,t(X;21)(p11;p13) carrier, an unbalanced translocation involving chromosomes X and #21, which leads to a monosomy of almost all Xp. The translocated #21 is practically complete, and its centromere is the active one in the rearranged product. The analysis of interphase nuclei with the X-centromere probe shows that the Xq region of the rearranged chromosome is the late -replicating and inactive element. However, X-inactivation does not spread to the attached #21, as shown by the R-banding pattern. Thus, both in the male adult and in the female infant there is a barrier to the spreading effect of X-chromosome inactivation, which is probably due to different mechanisms.(AU)


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adulto , Cromossomos Humanos Par 21/genética , Mecanismo Genético de Compensação de Dose , Translocação Genética , Cromossomo X/genética , Cromossomos Humanos Par 21/ultraestrutura , Meiose , Espermatócitos/ultraestrutura , Cromossomo X/ultraestrutura
4.
Biocell ; Biocell;25(2): 155-66, 2001 Aug.
Artigo em Inglês | BINACIS | ID: bin-39433

RESUMO

Two patients, one adult male and one infant girl, bearing different X-autosome translocations, were studied with cytogenetical, ultrastructural and chromosome-painting techniques. The adult male, is a carrier of a reciprocal, balanced translocation involving the X and #2 chromosomes: 46,Y,t(X;2) (q13;p21). This man showed infertility with spermatogenesis arrest at the spermatocyte stage. Synaptonemal complex analysis at pachytene showed the quadrivalent structure and the putative breakage points. Sex-chromatin condensation did not spread towards the autosomal regions of the quadrivalent. The female infant showed diminished body growth and multiple somatic anomalies. She is a 45,Xp-,t(X;21)(p11;p13) carrier, an unbalanced translocation involving chromosomes X and #21, which leads to a monosomy of almost all Xp. The translocated #21 is practically complete, and its centromere is the active one in the rearranged product. The analysis of interphase nuclei with the X-centromere probe shows that the Xq region of the rearranged chromosome is the late -replicating and inactive element. However, X-inactivation does not spread to the attached #21, as shown by the R-banding pattern. Thus, both in the male adult and in the female infant there is a barrier to the spreading effect of X-chromosome inactivation, which is probably due to different mechanisms.

5.
Rev. gastroenterol. Perú ; 14(1): 52-64, ene.-abr. 1994. ilus
Artigo em Espanhol | LILACS | ID: lil-132525

RESUMO

Este es un reporte preliminar sobre una niña de ocho años con ausencia de función renal, en diálisis crónica, que desarrolló una fístula de intestino delgado post-operatoria a débido alto, asociada a sepsis y desnutrición. La paciente tuvo un tratamiento con resultado exitoso al utilizar un esquema de Nutrición Parenteral Total que incluía una solución de aminoácidos que contenia 60 por ciento de amnoácidos esenciales y un 40 por ciento de aminoácidos no esenciales, ahora disponible en el Perú, sin tener que aumentar la frecuencia de hemodiálisis por un período de 72 días en Nutrición Parenteral Total. Se resalta el manejo por una Unidad de Soporte Nutrional Artificial.


Assuntos
Humanos , Feminino , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/terapia , Nutrição Parenteral Total , Desnutrição Proteico-Calórica/terapia , Aminoácidos/administração & dosagem , Aminoácidos/uso terapêutico , Fístula Intestinal/cirurgia , Desnutrição Proteico-Calórica/etiologia
6.
Rev Gastroenterol Peru ; 14(1): 52-64, 1994.
Artigo em Espanhol | MEDLINE | ID: mdl-8018901

RESUMO

This is a preliminary report on an eight-year-old child with uremia (terminal renal failure) on chronic dialysis, that developed a postoperative high output small bowel fistula associated with sepsis and malnutrition. She was successfully treated with a Total Parenteral Nutrition (TPN) scheme including an amino acid solution with 60% essential amino acids and 40% non-essential amino acids, now available in Peru, without increasing the frequency of hemodialysis for a 72-day period on TPN. Attention is drawn to Nutritional Support Team Approach.


Assuntos
Doenças do Íleo/terapia , Fístula Intestinal/terapia , Doenças do Jejuno/terapia , Falência Renal Crônica/terapia , Nutrição Parenteral Total , Complicações Pós-Operatórias/terapia , Criança , Terapia Combinada , Feminino , Humanos , Nutrição Parenteral Total/métodos , Nutrição Parenteral Total/estatística & dados numéricos , Fatores de Tempo , Uremia/terapia
10.
Prensa méd. argent ; Prensa méd. argent;56(26): 1302-3, 1969 Aug 29.
Artigo em Espanhol | LILACS-Express | BINACIS | ID: biblio-1167829
15.
Prensa méd. argent ; Prensa méd. argent;56(26): 1302-3, 1969 Aug 29.
Artigo em Espanhol | BINACIS | ID: bin-44565
16.
Prensa Med Argent ; 55(3): 166-9, 1968 Mar 15.
Artigo em Espanhol | MEDLINE | ID: mdl-5740084

Assuntos
Cromatina Sexual
19.
Prensa méd. argent ; Prensa méd. argent;55(3): 166-9, 1968 Mar 15.
Artigo em Espanhol | LILACS-Express | BINACIS | ID: biblio-1167394
20.
Prensa méd. argent ; Prensa méd. argent;55(3): 166-9, 1968 Mar 15.
Artigo em Espanhol | BINACIS | ID: bin-41123
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