Vasa previa, diagnóstico prenatal y manejo obstétrico / Vasa previa, prenatal diagnosis and management

Vasa previa ocurre cuando los vasos umbilicales no protegidos por el tejido placentario o cordón umbilical se sitúan en el segmento uterino inferior, delante de la presentación fetal a menos de 2 cm del orificio cervical interno. Los factores de riesgo son inserción velamentosa de cordón, placenta previa, placenta succenturiata y técnicas de reproducción asistida. El diagnóstico mediante ecografía transvaginal y Doppler color permite objetivar la presencia de vasos fetales por delante de la presentación fetal. El manejo incluye la maduración fetal con corticoides y cesárea electiva antes del parto. Describimos un caso clínico ocurrido en nuestro hospital

Vasa praevia is a condition in which the umbilical vessels, not supported by either the umbilical cord or placental tissue, cross the foetal membranes of the lower segment within 2 cm of the internal cervical os. The risk factors are velamentous insertion of the cord, placenta praevia, a bilobed and succenturiate placenta, and the use of assisted human reproductive techniques. The antenatal diagnosis by transvaginal ultrasound and colour Doppler can be used during the routine second trimester ultrasound in women with high risk. When the diagnosis is made in the antenatal period, the safest form of delivery is an elective caesarean with administration of corticosteroids prior to the onset of labour. A case diagnosed in our hospital is presented

Direct measurements of two-way wave-particle energy transfer in a collisionless space plasma.

Particle acceleration by plasma waves and spontaneous wave generation are fundamental energy and momentum exchange processes in collisionless plasmas. Such wave-particle interactions occur ubiquitously in space. We present ultrafast measurements in Earth's magnetosphere by the Magnetospheric Multiscale spacecraft that enabled quantitative evaluation of energy transfer in interactions associated with electromagnetic ion cyclotron waves. The observed ion distributions are not symmetric around the magnetic field direction but are in phase with the plasma wave fields. The wave-ion phase relations demonstrate that a cyclotron resonance transferred energy from hot protons to waves, which in turn nonresonantly accelerated cold He+ to energies up to ~2 kilo-electron volts. These observations provide direct quantitative evidence for collisionless energy transfer in plasmas between distinct particle populations via wave-particle interactions.

Electron Bulk Acceleration and Thermalization at Earth's Quasiperpendicular Bow Shock.

Electron heating at Earth's quasiperpendicular bow shock has been surmised to be due to the combined effects of a quasistatic electric potential and scattering through wave-particle interaction. Here we report the observation of electron distribution functions indicating a new electron heating process occurring at the leading edge of the shock front. Incident solar wind electrons are accelerated parallel to the magnetic field toward downstream, reaching an electron-ion relative drift speed exceeding the electron thermal speed. The bulk acceleration is associated with an electric field pulse embedded in a whistler-mode wave. The high electron-ion relative drift is relaxed primarily through a nonlinear current-driven instability. The relaxed distributions contain a beam traveling toward the shock as a remnant of the accelerated electrons. Similar distribution functions prevail throughout the shock transition layer, suggesting that the observed acceleration and thermalization is essential to the cross-shock electron heating.

Comprehensive transcriptomic analysis of the process of gonadal sex differentiation in the turbot (Scophthalmus maximus).

The turbot is a flatfish with a ZW/ZZ sex determination system but with a still unknown sex determining gene(s), and with a marked sexual growth dimorphism in favor of females. To better understand sexual development in turbot we sampled young turbot encompassing the whole process of gonadal differentiation and conducted a comprehensive transcriptomic study on its sex differentiation using a validated custom oligomicroarray. Also, the expression profiles of 18 canonical reproduction-related genes were studied along gonad development. The expression levels of gonadal aromatase cyp19a1a alone at three months of age allowed the accurate and early identification of sex before the first signs of histological differentiation. A total of 56 differentially expressed genes (DEG) that had not previously been related to sex differentiation in fish were identified within the first three months of age, of which 44 were associated with ovarian differentiation (e.g., cd98, gpd1 and cry2), and 12 with testicular differentiation (e.g., ace, capn8 and nxph1). To identify putative sex determining genes, ∼4.000 DEG in juvenile gonads were mapped and their positions compared with that of previously identified sex- and growth-related quantitative trait loci (QTL). Although no genes mapped to the previously identified sex-related QTLs, two genes (foxl2 and 17ßhsd) of the canonical reproduction-related genes mapped to growth-QTLs in linkage group (LG) 15 and LG6, respectively, suggesting that these genes are related to the growth dimorphism in this species.

Solar wind thermally induced magnetic fluctuations.

A kinetic description of Alfvén-cyclotron magnetic fluctuations for anisotropic electron-proton quasistable plasmas is studied. An analytical treatment, based on the fluctuation-dissipation theorem, consistently shows that spontaneous fluctuations in plasmas with stable distributions significantly contribute to the observed magnetic fluctuations in the solar wind, as seen, for example, in [S. D. Bale et al., Phys. Rev. Lett. 103, 211101 (2009)], even far below from the instability thresholds. Furthermore, these results, which do not require any adjustable parameters or wave excitations, are consistent with the results provided by hybrid simulations. It is expected that this analysis contributes to our understanding of the nature of magnetic fluctuations in the solar wind.

Bidirectional energy cascades and the origin of kinetic Alfvénic and whistler turbulence in the solar wind.

The observed steep kinetic scale turbulence spectrum in the solar wind raises the question of how that turbulence originates. Observations of keV energetic electrons during solar quiet time suggest them as a possible source of free energy to drive kinetic turbulence. Using particle-in-cell simulations, we explore how the free energy released by an electron two-stream instability drives Weibel-like electromagnetic waves that excite wave-wave interactions. Consequently, both kinetic Alfvénic and whistler turbulence are excited that evolve through inverse and forward magnetic energy cascades.

Síndrome de Klinefelter de presentación atípica / Atypical presentation of Klinefelter syndrome

El síndrome de Klinefelter (SK) es la cromosomopatía sexual más frecuente y asocia un hipogonadismo hipergonadotropo como manifestación endocrinológica. El fenotipo es masculino con talla alta, adiposidad abdominal y testículos pequeños, y aparece habitualmente después de la pubertad. Se presentan 2 casos clínicos: un paciente de 2 años con talla baja que requirió tratamiento con hormona de crecimiento. Al no progresar el desarrollo puberal y presentar niveles basales elevados de gonadotropinas, se realiza cariotipo con resultado 48XXYY (SK). El segundo es un paciente de 8 años con clínica de pubertad precoz, en el que se constata un aumento de las concentraciones de β-gonadotropina. En la tomografía computarizada torácica se halló una masa mediastínica. Se realiza estudio citogenético con cariotipo 48XXYY (SK).La talla baja no excluye el diagnóstico de SK y ante un paciente con masa mediastínica y retraso neurocognitivo debemos sospechar un SK y solicitar cariotipo (AU)

Klinefelter syndrome (KS) is the most common sex chromosomal abnormality and is associated with hypergonadotropic hypogonadism as an endocrine disorder. The phenotype is characterized by tall stature, abdominal adiposity and small testicles, and often appears after puberty.We report two cases of SK. The first patient is a 2-year-old boy with short stature who received growth hormone therapy. Because of non-progressive puberty, an evaluation of the reproductive axis was performed, showing increased basal gonadotropins. The karyotype (48 XXYY) confirmed the presence of KS. The second patient is an 8 year-old boy in whom peripheral precocious puberty was suspected. Laboratory tests showed high chorionic gonadotropin levels, and a chest CT scan revealed a mediastinal mass. The karyotype in peripheral blood disclosed a 48 XXYY formula (KS).Short stature does not exclude SK. In patients with a mediastinal mass and neurobehavioral deficits, KS should be suspected (AU)

[Atypical presentation of Klinefelter syndrome]. / Síndrome de Klinefelter de presentación atípica.

Klinefelter syndrome (KS) is the most common sex chromosomal abnormality and is associated with hypergonadotropic hypogonadism as an endocrine disorder. The phenotype is characterized by tall stature, abdominal adiposity and small testicles, and often appears after puberty.We report two cases of SK. The first patient is a 2-year-old boy with short stature who received growth hormone therapy. Because of non-progressive puberty, an evaluation of the reproductive axis was performed, showing increased basal gonadotropins. The karyotype (48 XXYY) confirmed the presence of KS. The second patient is an 8 year-old boy in whom peripheral precocious puberty was suspected. Laboratory tests showed high chorionic gonadotropin levels, and a chest CT scan revealed a mediastinal mass. The karyotype in peripheral blood disclosed a 48 XXYY formula (KS).Short stature does not exclude SK. In patients with a mediastinal mass and neurobehavioral deficits, KS should be suspected.

Cuerpos extraños como causa de metrorragia posmenopáusica / No disponible

Presentamos dos casos clínicos de mujeres mayores (68 y 91 años) que fueron remitidas al Servicio de Ginecología desde Atención Primaria por presentar metrorragia posmenopáusica. La exploración demostró la presencia de cuerpos extraños vaginales: un capuchón plástico de un preparado farmacológico de aplicación vaginal en el primer caso y la tapa de una barra de labios en el segundo (AU)

We present two clinical cases of a 68 and a 91-year-oldwoman who were sent to the Gynecology Department by their General Practitioners because they presented posmenopausal bleeding. The examination showed the presence of vaginal foreign bodies: a plastic cover from a pharmacologic product for vaginal use in the first case and a lipstick bar in the second (AU)

Carcinoma escamoso primario de mama posradiación / Postradiation primary squamous cell carcinoma of the breast

El carcinoma escamoso (CE) primario de mama es una entidad rara dentro de las neoplasias malignas de mama. Su clínica, diagnóstico y tratamiento no difieren del resto de los tumores de mama. El pronóstico es controvertido y la supervivencia a los 5 años es del 50 al 60%. A continuación se presenta el caso de una mujer que sufrió CE primario de mama 11 años después del tratamiento con radioterapia por un carcinoma ductal infiltrante de mama (AU)

Primary squamous cell carcinoma of the breast is a rare entity within malignant neoplasm of the breast. The clinical features, diagnosis and treatment do not differ from those of other breast tumors. Prognosis is controversial and 5-year survival is 50–60%. We report a case of primary squamous cell carcinoma of the breast 11 years after treatment with radiotherapy for an infiltrating ductal breast carcinoma (AU)

Asistencia a la gestante con VIH-sida en el período 1996-2006 en el Hospital de León / HIV-AIDS pregnancy management from 1996 to 2006 at the Hospital de León (Spain)

Objetivo. Valoración del tratamiento y seguimiento de la gestante con VIH-sida en el Hospital de León en el período 1996-2006. Material y método. Estudio observacional, descriptivo y retrospectivo. Se analizaron 21.780 nacimientos, 18 gestantes con VIH-sida con 21 partos. Especial hincapié en las variables relativas al momento del parto. Resultados. Prevalencia del VIH-sida del 1‰, tratamiento TARGA el 47%, embarazos a término el 95%, cesáreas el 71,5%. Una única malformación congénita menor. Transmisión vertical en gestantes diagnosticadas antes del parto del 4,7%. Conclusiones. La asistencia fue adecuada y acorde con los protocolos de la SEGO. No se observó alta incidencia de efectos adversos ni patología obstétrica (AU)

Objective. To evaluate the treatment and follow-up of pregnant women with HIV-AIDS at the Hospital de León from 1996 to 2006. Material and method. We performed an observational, descriptive, retrospective study. A total of 21,780 births and 18 pregnant women with HIV-AIDS with 21 labors were analyzed. Special emphasis was placed on labor-related variables. Results. The prevalence of HIV infection was 1%. Highly active antiretroviral therapy was used by 47%. Full term pregnancies were achieved in 95%. Cesarean sections were performed in 71.5%. There was one minor congenital malformation. Vertical transmission in pregnant women diagnosed before delivery occurred in 4.7%. Conclusions. The treatment and follow-up provided to pregnant women with HIV-AIDS was adequate and in accordance with the protocols of the Spanish Society of Obstetrics and Gynecology. The incidence of adverse effects and obstetric pathology was not high (AU)

Usefulness of bronchial reactivity analysis in the diagnosis of bronchial asthma in patients with bronchial hyperresponsiveness.

We examined the usefulness of some bronchial reactivity indices to identify bronchial asthma in patients with airway hyperresponsiveness. Eighty-eight consecutive patients with positive response to histamine bronchial challenge (> or = 20% fall in FEV1) were included in the study. Dose-response curves were characterised by their sensitivity (PD20) and reactivity. Dose-response slope, continuous index of responsiveness (CIR) and bronchial reactivity index (BRI) with respect to baseline and post-diluent baseline values were determined as reactivity indices. The clinical diagnosis remaining in the case history 2 years after the bronchial challenge was considered the definitive diagnosis. Asthmatic patients had higher baseline BRI (12.121+/-0.412 vs. 11.615+/-0.201; P<0.001) and post-diluent baseline BRI (12.054+/-0.368 vs. 11.563+/-0.531; P = 0.003) than other subjects. Area beneath their receiver operating characteristic (ROC) curve was 82.68% (standard error: 0.77) for the baseline BRI and 81.73 (standard error: 0.76). By multiple logistic regression analysis, baseline BRI was the only independent variable identified as a predictor for diagnosis of bronchial asthma (r = 0.387, P = 0.0007). A cut-off of 11.76 for baseline BRI reached an 87.2% sensitivity and an 80% specificity for bronchial asthma diagnosis. In conclusion, BRI calculated with respect to baseline FEV1 should be useful in identifying asthmatic patients among subjects with airway hyperresponsiveness.

Carcinoma de trompa de Falopio: revisión de 10 casos clínicos / Carcinoma of the fallopian tube: a review of 10 clinical cases

El carcinoma de trompa uterino es el menos frecuente de los carcinomas ginecológicos, y representa entre el 0,8 y el 1,5 por ciento de todos ellos. Su diagnóstico no suele ser preoperatorio, sino como hallazgo casual en piezas quirúrgicas. La edad media de las pacientes oscila en torno a los 60 años. Revisamos los casos de carcinoma de trompa de Falopio diagnosticados en nuestro servicio de ginecología entre los años 1993 y 2002. La edad media de las pacientes fue de 65,5 años. Los síntomas más frecuentes fueron hemorragia genital, seguido de masa abdominal y de dolor pelviano. Ningún caso fue diagnosticado preoperatoriamente. El 60 por ciento se encontraba en estadio I, el 20 por ciento en estadio II y el 20 por ciento en estadio III. Al 30 por ciento de las pacientes se le practicó cirugía y el 60 por ciento recibió tratamiento adyuvante de quimioterapia con cisplatino. Recogemos la sintomatología clínica, el diagnóstico, el tratamiento realizado y la evolución de las pacientes (AU)

Prothymosin alpha, a mammalian c-myc-regulated acidic nuclear protein, provokes the decondensation of human chromosomes in vitro.

Prothymosin (ProT alpha) is an acidic nuclear protein, widely distributed in mammalian cells, whose expression is regulated by c-myc and linked to cell proliferation. ProT alpha interacts with histone H1 via its acidic domain, and its overexpression provokes the unfolding of chromatin fibers. Here we show that incubation of human native metaphase chromosomes with ProT alpha induces their extensive unravelling suggesting a function of this protein in chromosome decondensation.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene, ZNF216, that maps to the DFNB7/11 interval. The mouse orthologue of this gene maps to the murine dn (deafness) locus on mouse chromosome 19. The ZNF216 gene is highly conserved between human and mouse, and contains two regions that show homology to the putative zinc linger domains of other proteins. To determine it mutations in ZNF216 might be the cause of hearing loss at the DFNB7/11 locus, we screened the coding region of this gene in DFNB7/11 families by direct sequencing. No potential disease-causing mutations were found. In addition, Northern blot analysis showed no difference in ZNF216 transcript size or abundance between dn and control mice. These data Suggest that the ZNF216 gene is unlikely to be responsible for hearing loss at the DFNB7/11 and dn loci.

The mouse deafness locus (dn) is associated with an inversion on chromosome 19.

Recombination data for the mouse deafness locus (dn) on chromosome 19 are consistent with the presence of an inversion for which one of the breakpoints is between D19Mit14 and D19Mit96, a distance of less than 226 kb. Fluorescence in situ hybridization studies using a bacterial artificial chromosome on interphase (G1) nuclei provide additional support for the presence of an inversion. The dn gene is probably the orthologue of the human DFNB7/DFNB11 gene on chromosome 9.

Localization of rDNA genes in European eel (Anguilla anguilla) by FISH.

A probe containing most of the transcription unit of the major ribosomal genes of Xenopus laevis has been used to localize the rDNA cluster of European eel (Anguilla anguilla) by fluorescence in situ hybridization (FISH). Only on NOR-bearing chromosome pair has been found. The results obtained with this technique confirm the size polymorphism of the NOR revealed previously by other classical cytogenetic techniques.

A new EcoRI family of satellite DNA in lampreys.

Satellite DNA sequences have been studied in several groups of organisms. However, until now this type of sequence has not been characterized in cyclostomata, an evolutionarily important class of vertebrates. In the present work, we report the molecular characterization of a new family of satellite DNA in lampreys (Petromyzon marinus). Digestion of lamprey DNA with EcoRI identified a series of very abundant AT-rich (60% A+T) repeating units, with short stretches of AT, that are multimers of 370 bp. Southern blot analysis and comparison with the satellite DNA sequences deposited in the databases indicate that this new family of satellite DNA is exclusive to lampreys. The distribution of this EcoRI satellite DNA on lamprey chromosomes was analyzed by in situ hybridization. The evolutionary origin of this satellite is briefly discussed.

Characterization of an atypical NOR site polymorphism in brown trout (Salmo trutta) with Ag- and CMA3-staining, and fluorescent in situ hybridization.

We have analyzed by Ag- and CMA3-staining, and rDNA fluorescent in situ hybridization an unusual NOR site polymorphism in a population of Salmo trutta from Mino basin (Northwestern Spain). A multichromosomal Ag-NOR distribution largely different from standard individuals both in the number and position of Ag-NORs, as well as in the pattern of activity, was revealed. Atypical Ag-NORs consist of rDNA genes, as evidenced by rDNA FISH, and are capable of constituting their own nucleolus. In spite of the large number of available NORs per individual, the mean number of Ag-NOR per cell was less than 3 in most individuals, which suggests a regulation mechanism to adjust the ribosomal production. The new rDNA clusters detected seem to be stably integrated, however, some characteristics of the NOR pattern observed suggest that this polymorphism is an unstable phenomenon.