ABSTRACT
La aplasia cutis ha sido asociada con todos los subtipos principales de epidermólisis bullosa, recibiendo el nombre de síndrome de Bart. Esta entidad afecta principalmente un miembro inferior, evidenciándose ausencia de piel con patrón en forma de S, además de lesiones de epidermólisis bullosa en cualquier otra parte del cuerpo. Se presenta el caso de un neonato, pre-término, con las características clínicas mencionadas, hospitalizado en el Servicio de Neonatología de la Fundación Cardiovascular de Colombia, Floridablanca, Colombia (AU)
Aplasia cutis has been associated with the main subtypes of bullous epidermolysis, receiving the name of Bart syndrome. It mainly affects one lower limb with a characteristic absence of skin with a S-shaped pattern plus bullous epidermolysis lesions elsewhere in the body. We present the case of apre-term male infant with all the clinical features mentioned investigated in the Neonatology Service of the Fundación Cardiovascular de Colombia, Floridablanca, Colombia (AU)
Subject(s)
Humans , Male , Infant, Newborn , Ectodermal Dysplasia/complications , Epidermolysis Bullosa/complications , Pigmentation Disorders/ethnology , Mutation , Genetic Predisposition to DiseaseABSTRACT
Introducción: Una de las complicaciones de la orquiepidédimitis (OE) aguda al largo plazo es la infertilidad secundaria a la atrofia testicular y el deterioro de la espermatogénesis. Los mecanismos fisiopatológicas exactos a través de los cuales la infección deteriora la espermatogénesis aún no están claros. Objetivo: Evaluar el impacto de la OE por Escherichia coli uropatógena (ECUP) sobre parámetros específicos de la espermatogénesis y esteroidogénesis. Materiales y método: El estudio incluyó 40 ratas Wistar macho. Post anestesia general se realizó una incisión escrotal media con posterior exposición de ambos epidídimos y conductos deferentes. Mediante la punción con una aguja 27G en el conducto deferente a un centímetro del epidídimo se inyectaron 50 ul de suspensión ECUP (10x6 UFC/ml) (grupo infectados) o suero fisiológico (grupo control). Las ratas fueron divididas en 4 grupos de 10 animales cada uno: el primer grupo infectado (n= 10) y control (n= 10) fue sacrificado a los 7 días y el segundo grupo infectado (n= 10) y control (n= 10) fue sacrificado a los 30 días post inoculación. Resultados: Respecto de los controles los animales infectados tuvieron menor (p< 0,05): concentración espermática (promedio +/- ds: 7 días = 100,2 +/- 56,8 vs 249,8 +/- 111,6; 30 días= 20,7 +/- 38,3 vs 75,3 +/- 98,7 millones/grm tejido en cola epidídimo); y mayor (p< 0,05): (i) degeneración del epitelio germinal e infiltración celular inflamatoria a los 30 días, y (ii) número de células espermatogénicas apoptóticas (índice apoptótico)detectadas por prueba de TUNEL a los 7 y a los 30 días. El ensayo inmunohistoquímico antivimentina reveló que las células apoptóticas dentro de los túbulos seminíferos fueron casi exclusivamente células germinales y no de Sertoli. No se observaron diferencias significativas en los niveles plasmáticos de testosterona entre el grupo infectado y control a los siete y treinta días de ser inyectados. Conclusiones: La OE aguda provocada...
Introduction: In the long term, one of the complications of epidydimo-orchitis (EO) is infertility due to testicular atrophy. The exact pathophisiologic mechanisms for impairment of spermatogenesis are not clear Objective: To evaluate the impact of infection by uropathogenic Escherichia coli (UPEC) on spermatogenesis and stereoidogenesis. Materials and method: The study included 40 Wistar male rats. Under general anesthesia a mid scrotal incision was performed. Both epidydimis and vas deferens were exposed. Using a 27G needle, 50 ul of either UPEC suspension (10x6 CFU/ml) or saline were injected. Rats were divided into 4 groups: the first study group (n =10) and controls ( n=10) were sacrificed at 7 days; the second study group (n =10) and controls (n =10) were sacrificed at 30 days post inoculation.Results: Compared to controls, infected animals had lower sperm concentration (p <0.05). The average +/- SD at 7 days was 100.2 +/- 56.8 vs 249.8 +/- 111.6 millions/gram of tissue from the tail of the epidydimis. At 30 days the results were 20.7 +/- 38.3 vs 75.3 +/- 98.7. The study group had more degeneration of germinal epithelium and inflammation at 30 days. The apoptotic index studied by TUNEL test at 7 and 30 days was higher. Immunohistochemistry with anti vimentin antibodies revealed that the apoptotic cells within seminifirous tubules were almost exclusively germ cells and not Sertoli cells. No significant differences on testosterone plasma levels between the study and control groups were found at 7 or 30 days post injection. Conclusions: Acute EO caused by retrograde inoculation of UPEC in rats generates a significant decrease in sperm concentration. This effect is secondary between others to an impairment of sperm activity at the seminiferous tubules generated by an increased apoptotic index of the sperm cells. The effect of EO on testosterone production seems irrelevant in the clinical setting.
Subject(s)
Animals , Male , Rats , Epididymitis/complications , Escherichia coli , Spermatogenesis , Orchitis/complications , TestosteroneABSTRACT
Polymorphism for B chromosomes has been detected in all nine populations of the grasshopper Eyprepocnemis plorans ssp. plorans sampled in Morocco. The most frequent B chromosome in all populations showed a C-banding pattern and size similar to those of the B1 variant found in the Iberian Peninsula. In addition, other B chromosome variants (B1iso1, B1iso2, B1d1, B1di1, B3 and B1dd1) were discovered in these populations, although at a very low frequency. No significant differences in B chromosome frequency were found either in the nine populations or, for some of them, in up to three consecutive years. These results are discussed in the light of current hypotheses on the evolution of this B chromosome polymorphism in the Iberian Peninsula.
ABSTRACT
Nine B chromosome variants, from seven different populations of Eyprepocnemis plorans collected at four localities in Spain and three in Morocco, have been shown to be mainly composed of two DNA sequences, i.e. a 180-bp tandem repeat and ribosomal DNA. B types, however, differ in the relative amounts of the two sequences. The most widespread one (B1) bears about the same amount of rDNA and 180 bp repeat, but three other variants that have reached a polymorphism by replacing B1 in smaller areas (B2, B5 and B24) carry a conspicuously larger amount of the 180 bp repeat. In Morocco, the most widespread B variant is also B1, and a rare variant that appeared in a single individual is also built with the same two DNA sequences. All these data point to a common origin for these B chromosomes, with B1 probably being the original one. The origin of the different B types and the possible relationship of the relative amount of 180 bp DNA repeat with B drive are discussed.
