Síndrome de cordón umbilical corto / Short umbilical cord syndrome

El síndrome de cordón umbilical corto es una anomalía poco común e incompatible con la vida que se asocia a defectos de la pared anterior del feto, cordón umbilical corto o ausente y anomalías de los miembros. Esta entidad es la más severa y más infrecuente entre los defectos de la pared anterior del abdomen, con una incidencia de 1 en 14 000 nacimientos. Se presenta el caso de un recién nacido de término, de sexo indeterminado, producto de primer embarazo, de parto abdominal. A las 28 semanas de gestación se diagnosticó un defecto en pared abdominal anterior y una imagen quística de columna vertebral por ultrasonografía. Al nacimiento se observaron los órganos abdominales expuestos, el cordón umbilical grueso, de 10 cm de longitud, eventración de intestinos e hígado y cifoescoliosis marcada, ausencia de genitales externos y de ano, un remanente de miembro inferior derecho y miembro inferior izquierdo completo con pie equinovaro. Se le dio apoyo ventilatorio y falleció a los 15 minutos de vida

Short umbilical cord syndrome is a rare and life-incompatible abnormality associated with fetal anterior wall defects, absent or short umbilical cord, and limb abnormalities. This entity is the most severe and rarest of anterior abdominal wall defects, with an incidence of 1 in 14,000 births. We present the case of a full-term newborn, of undetermined sex, product of first pregnancy, of abdominal delivery. At 28 weeks' gestation, an anterior abdominal wall defect and a cystic image of the spine were diagnosed by ultrasonography. At birth, the exposed abdominal organs, the thick umbilical cord, 10 cm in length, eventration of the intestines and liver and marked kyphoscoliosis, absence of external genitalia and anus, a remnant of the right lower limb and complete left lower limb with foot were observed. equinovarus. Ventilatory support was given and died at 15 minutes of life

Embarazo ectópico hepático / Hepatic ectopic pregnancy

El embarazo ectópico abdominal es el más raro de los embarazos. El saco gestacional se implanta en la pelvis o en estructuras vascularizadas como el hígado, bazo o mesenterio. El riesgo de complicación es 7 a 8 veces mayor que el riesgo de un embarazo ectópico tubárico, y es 90 veces mayor que el de un embarazo intrauterino. Por esta razón, tiene una elevada mortalidad y el diagnóstico temprano, así como, su tratamiento oportuno, salva vidas. Este caso relata la historia de una mujer de 43 años multípara, de la zona rural, quien consultó por sensación de plenitud, dolor abdominal relacionado a la ingesta de comidas grasosas y ausencia de menstruación de 7 semanas. Sin precisar un diagnóstico, presentó signos de shock hipovolémico, por tal motivo, fue referida al Hospital San Juan de Dios de San Miguel, donde fue atendida en máxima urgencia, se hizo el diagnóstico de embarazo ectópico hepático roto y se realizó cirugía de emergencia en conjunto con cirugía general. Se le extirpó el lóbulo hepático derecho que contenía el embarazo y luego se le colocó un parche de epiplón. El manejo en unidad de cuidados intensivos tuvo buen término, a pesar de la inestabilidad hemodinámica que presentó.

Ectopic abdominal pregnancy is the rarest of all kind of pregnancies. The gestational sac is implanted in the pelvis or in vascularized structures such as the liver, spleen or mesentery. The risk of complication is 7 to 8 times higher than a tubal ectopic pregnancy and 90 times higher that than an intrauterine pregnancy. For this reason, it has a high mortality rate and early diagnosis and timely treatment save lives. This clinical case it's about a 43-year-old multiparous woman from the rural area, who consulted for a sensation of fullness, diffuse abdominal pain related to the ingestion of fatty foods and absence of menstruation for 7 weeks. without specifying a diagnosis, the patient presented signs of hypovolemic shock, for which she was referred to the San Juan de Dios Hospital in San Miguel, where she was treated urgently, performing a diagnostic of ripped ectopic hepatic pregnancy requiring an emergency surgery along with a general surgery. The right lobe of the liver that contained the pregnancy was removed and then an omentum patch was placed. The intensive care management was accomplished, yet the homodynamic instability presented

Características clínicas y radiológicas en individuos con Síndrome Treacher Collins: reporte de casos / Radiologic and clinic characteristics in individuals with Treacher Collins Syndrome: case report

El Síndrome de Treacher Collins es una malformación craneofacial autosómica dominante (STC) que se presenta cuando el gen TCOF1 (5q32-q33.1) sufre una mutación. Su incidencia se estima en 1/50,000 nacidos y presenta manifestaciones en tejidos blandos y duros. Métodos: Seis individuos diagnosticados con STC, remitidos de la Asociación Treacher Collins México AC, para la realización de estudios imagenológicos prequirúrgicos. Objetivo: Describir las características clínicas, radiográficas y morfométricas de individuos con esta condición. Resultados: No existen suficientes estudios en los cuales se determinen patrones específicos en un mismo individuo, e incluso cuando se comparan entre sí, por lo que es necesario establecer protocolos para su manejo. Conclusiones: Las características clínicas del individuo con STC varían de acuerdo con la severidad de expresión genética, las cuales se pueden corroborar con fotografías, imágenes radiográficas y medidas morfométricas que nos orientaran en el manejo y planeación del tratamiento. (AU)

Treacher Collins Syndrome is a craniofacial, autosomal dominant, severe and complex malformation that occurs when the TCOF1 (5q32-q33.1) gene suffers a mutation. Its incidence is estimated at 1/50,000 births and shows manifestations in soft and hard tissues. Methods: Six individuals whit TCS diagnosis refer from Asociacion Treacher Collins México AC to do a pre-surgical imaging studies. Objective: Describe the clinical, radiographic and morphometric characteristics of individuals with this condition. Results: There are not enough studies that may establish specific patterns in the same individual and even when compared to each other, so it is necessary to establish protocols for their management. Conclusions: The clinical characteristics of the individual with TCS vary according to the severity of genetic expression, which can be corroborated with photographs, radiographic images and morphometric measurements that will guide us is the management and planning of treatment. (AU)

Overweight, Obesity, and Older Age Favor Latent Tuberculosis Infection among Household Contacts in Low Tuberculosis-Incidence Settings within Panama.

Latent tuberculosis infection (LTBI) remains the main source of new active tuberculosis (TB) cases worldwide. Household close contacts (HCCs) are at high risk of acquiring LTBI and subsequent development of TB. In this study, we aim to identify risk factors associated with LTBI in HCCs of TB patients living in a low TB-incidence setting. Our results revealed that HCCs who are aged more than 50 years (OR = 4.05) and overweight (OR = 15.3) are at higher risk of acquiring LTBI. None of these LTBI household contacts progressed to active TB. These findings suggest that HCCs who are young adults and children with normal and low body mass index are less likely to acquire LTBI after exposure to TB patients, even in low TB-incidence settings.

Embryonic neural stem cells in a 3D bioassay for trophic stimulation studies.

Progenitors were discovered in the corpus striatum several years ago, but little is known about their proliferation and differentiation. The aim of this study was to analyze embryonic progenitor cells from the corpus striatum using a bioassay with trophic stimulation. Primary cells obtained from brains of rat embryos at E13-14 were dissected from striatum niches and cultured in stem cell media. These floating dispersed cells clumped together to forming floating bodies like irregular spheres (spheroids), which were placed in type I collagen gel and cultured under basal conditions or with the addition of NGF, NT-3, or NTN. Optimum growth of neurites was obtained, and after 24 and 48 h, they were measured for number and length. The expression of proliferation markers such as PCNA and Ki67, and of neural progenitor markers such as GFAP, nestin, vimentin, O4, A2B5, Pax6, S100, TubIII, and NeuN, was then analyzed. The initial behavior in cell cultures showed distinguishable spheroids that, when placed in 3D gels and with trophic support, generated neurites. A similar effect was observed in glial cell outgrowth from the spheroids. Our assay showed high reproducibility, short culture time, and high resolution for tracing neuron-neurite outgrowth or visualizing glial outgrowth in a few hours.

Subtractive hybridization identifies genes differentially expressed by olfactory ensheathing cells and neural stem cells.

The in vitro differentiation of embryonic stem cells into glia has received relatively limited attention to date when compared with the interest in the generation of neurons. We are interested in a particular glial phenotype, the aldynoglia, and their differentiation from multipotential neural precursors (MNP), since this type of glia can promote neuronal regeneration. We constructed cDNA libraries from cultures of purified olfactory ensheathing cells (OEC), an aldynoglia cell type, and MNP to perform subtractive hybridization. As a result, we isolated four genes from the OEC: one tenascin C (Tn-C) isoform, Insulin-like growth factor binding protein 5 (Igfbp-5), cytochrome oxidase subunit I (COX1) and a phosphodiesterase for cyclic nucleotides (CNPase). With the exception of CNPase, these genes are expressed more strongly in the OEC than in the MNP and moreover, the expression of all four is induced when MNP were exposed to OEC conditioned media. The data suggest a role for these genes in MNP differentiation, and their products appear to represent characteristic proteins of the aldynoglia phenotype.

Microarray analysis of striatal embryonic stem cells induced to differentiate by ensheathing cell conditioned media.

The mammalian central nervous system contains well-defined regions of plasticity in which cells of the aldynoglia phenotype promote neuronal growth and regeneration. Only now are the factors that regulate the production of new cells from multipotential neural precursors (MNP) starting to be identified. We are interested in understanding how differentiation towards the aldynoglia phenotype is controlled, and to study these events we have induced the differentiation of embryonic MNP towards this phenotype in vitro. Accordingly, we have used microarrays to analyze gene expression in three different cell populations: olfactory bulb ensheathing cells (EC), a prototypic aldynoglia cell type; undifferentiated MNP; and MNP differentiated in vitro for 24 hr in EC-conditioned media. The expression profiles identified support the idea that the EC are more closely related to Schwann cells and astrocytes than to oligodendrocytes. Following MNP differentiation, more strongly expressed genes define a neuroglial cell phenotype. RT-PCR confirms that S100a6, Mtmr2, and Col5a were highly expressed by EC, whereas Pou3f3 were more strongly expressed in MNP than in EC, and SafB1 and Mash1 expression were induced in MNP by EC-conditioned media. The profile of gene expression after differentiation suggests that Wnt signaling may be inactivated during this process, while activation of the BMP pathway may be elicited through the BMPr1A. These results provide us with a starting point to study the genes involved in the induction of aldynoglia differentiation from MNP.