Meningocele manque dorso-lumbar: a propósito de un caso / Lumbar back meningocele manque: a purpose of a case

EL meningocele manque es una patología infrecuente que se caracteriza por una protrusión de meninges y liquido cefalorraquídeo, con una banda anclante de raíces nerviosas libres funcionantes o de la medula misma sin placoda neural. Se presenta este caso de un recién nacido masculino con diagnóstico de meningocele manqué, que fue operado en el Hospital Central “Dr. José María Vargas” San Cristóbal (HCJMV), evolucionando satisfactoriamente. Esta entidad es infrecuente, sin predilección de sexo y se reporta en menos del 4 por ciento con una tasa de 1 x 100000 nacidos vivos; en pacientes con localización dorsolumbar, el conocer esta entidad permitiría al neurocirujano, identificar claramente estos casos durante su práctica profesional.

Detection of schistosomiasis cases in low-transmission areas based on coprologic and serologic criteria The Venezuelan experience.

Low and very-low intensities of infection hinder the diagnosis of schistosomiasis. Therefore, new parameters should be established in order to more accurately identify active cases and true infection prevalence, for the adequate implementation of a control program. After the survey and analysis of the epidemiological characteristics of five Venezuelan communities, we propose three criteria for the definition of a "schistosomiasis case", based on different diagnostic methods: stool examination, ELISA-soluble egg antigen with sodium metaperiodate (SMP-ELISA), alkaline phosphatase immunoassay (APIA) and the circumoval precipitin test (COPT). Briefly, criterion I: persons with Schistosoma mansoni eggs in stools; criterion II: persons without eggs in stools, with positive COPT, without previous antischistosome chemotherapy in the last year; and criterion III: persons without eggs in stools, with negative COPT, with two positive immunoenzymatic tests (SMP-ELISA and APIA), and with no previous chemotherapy. The incorporation of serological tests to epidemiologic surveillance in areas of low-transmission tries to compensate the underestimation of prevalence based only on parasitological diagnosis.

Influenza vaccinations of young children increased with media coverage in 2003.

OBJECTIVE: We sought to evaluate the impact of intense influenza media coverage during the 2003-2004 influenza season on the influenza vaccination status of children 6 to 59 months of age. METHODS: Children 6 to 59 months of age who presented to a large, academic pediatric continuity clinic or affiliated acute care clinic in the summer of 2004 were enrolled. A parental survey ascertained the influenza vaccination status of the child and family members during the 2003-2004 influenza season and factors that influenced their vaccination status. For children vaccinated in the clinic or health department, influenza vaccination dates were confirmed in a computerized medical chart or state immunization registry. RESULTS: Of 256 enrolled children, 98 (38%) parents reported that their child had received the 2003-2004 influenza vaccine, and 64 (65%) had confirmed influenza vaccination dates. Unlike the previous influenza season in which confirmed influenza vaccination dates from a similar study population were distributed more evenly from October through December, most children (75%) with confirmed vaccination dates received the vaccine after the media coverage in mid-November. Influenza vaccinations per week increased dramatically after the media coverage began (2.4 vs 8.6 per week; t test: P < .001). In late November and December 2003, the influenza-related media coverage, which focused primarily on an early, severe influenza season, increased dramatically and explained 85% of the variation in influenza vaccinations. Multivariate analysis showed that recalling a physician recommendation (odds ratio [OR]: 6.8; 95% confidence interval [CI]: 2.3-19.7), having a family member who had received the influenza vaccine (OR: 9.5; 95% CI: 4.3-21.3), having a continuity clinic visit between October and January (OR: 4.5; 95% CI: 2.0-10.1), and having a high-risk medical condition (OR: 2.9; 95% CI: 1.1-7.8) strongly predicted the influenza vaccination status in the children. CONCLUSION: Media coverage in conjunction with explicit physician recommendation for children and their contacts are key factors that are associated with influenza vaccination rates in children.

Schistosoma: cross-reactivity and antigenic community among different species.

It is not unusual to find common molecules among different species of the genus Schistosoma. When those molecules are antigenic, they may be used in immunodiagnosis and vaccines, but they could also be applied to taxonomic and evolutionary studies. To study cross-reactivity and antigenic community among different species of schistosomes, plasmas from laboratory animals infected with Schistosoma bovis, S. guineensis, S. rodhaini, S. haematobium, and four strains of S. mansoni were evaluated with a crude extract of adult worms of S. mansoni by Western blot. Using the multiple antigen blot assay, plasmas from these infected animals were exposed to a selected group of synthetic peptides from Sm28GST, Sm28TPI, Sm elastase, Sm97, Sm32, Sm31, and Sm Cathepsin L. The results presented herein demonstrate differential cross-reactivity and antigenic community among the Mansoni and Haematobium groups of schistosomes, which is of relevance as an additional new tool for phylogenetic studies of schistosomes as well as for diagnosis and vaccine purposes.

Craneofaringioma en el Hospital de Niños "J.M. de Los Ríos": IV reporte (1985-1995) / Craneopharygiomas in the Hospital de Niños J.M. de Los Ríos: IV report (1985-1995)

Doscientos cincuenta y un casos de tumores cerebrales verificados anatomopatológicamente, durante los años 1985-1995, mostraron la presencia de 15 craneofaringiomas, cuyo estudio integral, clínico, imagenológico, endocrinológico, terapéuticos quirúrgicos y tratamientos radiantes se revisan

Schistosomiasis mansoni in areas of low transmission: epidemiological characterization of Venezuelan foci.

Severe schistosomiasis is a rare event in Venezuela nowadays, after a successful national campaign by the Schistosomiasis Control Program. Unfortunately, this program has practically disappeared, and snail surveillance in field is not a priority, anymore. Thus, schistosomiasis has become a neglected disease in this country. However, surveys in different populations from the endemic area have shown particular epidemiological features described herein. In five communities we evaluated 2,175 persons and searched for the presence of Biomphalaria glabrata snails. Some markers were used for classifying schistosomiasis foci: mean age of the persons with Schistosoma mansoni eggs in the stools, serological tests, presence of B. glabrata snails, and intensity of infection. Places without B. glabrata snails and with few schistosomiasis cases were defined as "past transmission sites"; a site with abundant snails but few cases was defined as "potential risk"; "new transmission" foci were characterized by the presence of infected snails and young people passing eggs in the stools. A "re-emergent" focus has shared these last features, showing in addition a place where schistosomiasis had been reported before. Recent evidences of active transmission with the increasing dispersion of B. glabrata snails, point out the necessity for the re-establishment of the Schistosomiasis Control Program in Venezuela.

Laboratory diagnosis of Schistosomiasis in areas of low transmission: a review of a line of research.

After 57 years of successful control of schistosomiasis in Venezuela, the prevalence and intensity of infection have declined. Approximately 80% of the individuals eliminate less than 100 eggs/g of stools, therefore morbidity is mild and the majority are asymptomatic. The sensitivity of Kato-Katz decreases to approximately 60%. Available serological methods for the detection of circulating antigens only reach a 70% of sensitivity. Tests based on the detection of antibodies by immunoenzymatic assays have been improved. The circumoval precipitine test has shown a high sensitivity (97%), specificity (100%), and correlation with oviposition, being considered the best confirmatory diagnostic test. Additionally to the classical immunoenzymatic assays, the development of the alkaline phosphatase immunoassay, allowed to reach a 100% specificity with an 89% sensitivity. Recently, we have developed a modified ELISA in which the soluble egg antigen is treated with sodium metaperiodate (SMP-ELISA) in order to eliminate the glycosilated epitopes responsible for the false positive reactions. The specificity and sensitivity reaches 97% and 99%, respectively. Synthetic peptides from the excretory-secretory enzymes, cathepsin B (Sm31) legumain (Sm32) and cathepsin D (Sm45), have been synthesized. The combination of two peptides derived from the Sm31 have been evaluated, reaching a sensitivity of 96% when analyzed independently and with a 100% specificity. Antibodies raised in rabbits against peptides derived from the Sm31 and Sm32 are currently evaluated in two different antigen-capture-based assays. The development of a simple, cheap and reliable test that correlates with parasite activity is a major goal.

Laboratory diagnosis of Schistosomiasis in areas of low transmission. A review of a line of research

After 57 years of successful control of schistosomiasis in Venezuela, the prevalence and intensity of infection have declined. Approximately 80 percent of the individuals eliminate less than 100 eggs/g of stools, therefore morbidity is mild and the majority are asymptomatic. The sensitivity of Kato-Katz decreases to approximately 60 percent. Available serological methods for the detection of circulating antigens only reach a 70 percent of sensitivity. Tests based on the detection of antibodies by immunoenzymatic assays have been improved. The circumoval precipitine test has shown a high sensitivity (97 percent), specificity (100 percent), and correlation with oviposition, being considered the best confirmatory diagnostic test. Additionally to the classical immunoenzymatic assays, the development of the alkaline phosphatase immunoassay, allowed to reach a 100 percent specificity with an 89 percent sensitivity. Recently, we have developed a modified ELISA in which the soluble egg antigen is treated with sodium metaperiodate (SMP-ELISA) in order to eliminate the glycosilated epitopes responsible for the false positive reactions. The specificity and sensitivity reaches 97 percent and 99 percent, respectively. Synthetic peptides from the excretory-secretory enzymes, cathepsin B (Sm31) legumain (Sm32) and cathepsin D (Sm45), have been synthesized. The combination of two peptides derived from the Sm31 have been evaluated, reaching a sensitivity of 96 percent when analyzed independently and with a 100 percent specificity. Antibodies raised in rabbits against peptides derived from the Sm31 and Sm32 are currently evaluated in two different antigen-capture-based assays. The development of a simple, cheap and reliable test that correlates with parasite activity is a major goal

Schistosomiasis mansoni in areas of low transmission. Epidemiological characterization of Venezuelan foci

Severe schistosomiasis is a rare event in Venezuela nowadays, after a successful national campaign by the Schistosomiasis Control Program. Unfortunately, this program has practically disappeared, and snail surveillance in field is not a priority, anymore. Thus, schistosomiasis has become a neglected disease in this country. However, surveys in different populations from the endemic area have shown particular epidemiological features described herein. In five communities we evaluated 2,175 persons and searched for the presence of Biomphalaria glabrata snails. Some markers were used for classifying schistosomiasis foci: mean age of the persons with Schistosoma mansoni eggs in the stools, serological tests, presence of B. glabrata snails, and intensity of infection. Places without B. glabrata snails and with few schistosomiasis cases were defined as "past transmission sites"; a site with abundant snails but few cases was defined as "potential risk"; "new transmission" foci were characterized by the presence of infected snails and young people passing eggs in the stools. A "re-emergent" focus has shared these last features, showing in addition a place where schistosomiasis had been reported before. Recent evidences of active transmission with the increasing dispersion of B. glabrata snails, point out the necessity for the re-establishment of the Schistosomiasis Control Program in Venezuela

The Ski protein family is required for MeCP2-mediated transcriptional repression.

DNA methylation is essential for development in the mouse and plays an important role in inactivation of the X chromosome and genomic imprinting. MeCP2 is the founder member of a family of methyl-CpG-binding proteins. MeCP2 directly binds to the co-repressor mSin3, which interacts with class I histone deacetylase, recruiting them to methyl-CpG regions to suppress transcription. Here, we report that MeCP2 directly binds to two co-repressors, c-Ski and N-CoR, in addition to mSin3A, and that the c-Ski, which is encoded by the c-ski proto-onocogene, is required for MeCP2-mediated transcriptional repression. The two regions of c-Ski, including the C-terminal coiled-coil region, interact with the transcriptional repression domain in the center of the MeCP2 molecule. The immunostaining signals for c-Ski and MeCP2 overlap in the nuclear heterochromatin region, suggesting the co-localization of the two proteins. The degree of transcriptional repression mediated by a Gal4-MeCP2 fusion protein was abrogated by overexpression of the putative dominant negative form of c-Ski. Furthermore, injection of antibodies against c-Ski and Sno almost completely abolished the transcriptional repression mediated by the Gal4-MeCP2 fusion protein. These results suggest that the ski gene family is involved in methyl CpG-mediated transcriptional repression.

Comunidad antigénica y reactividad cruzada: su repercusión en el diagnóstico y tratamiento de enfermedades parasitarias especial referencia a esquistosomiasis / Community antigenic and cross reaction: repercussion in the diagnosis and treatment parasitic of disease special reference e schistosomiasis

Las condiciones geográficas, ambientales, culturales y económicas facilitan en algunas áreas las infecciones simultaneas por varios agentes. Parásitos de un mismo género o de diferentes familias o phyla, entre parásitos y sus hospederos, comparten moléculas capaces de despertar respuestas inmunes comunes. Este fenómeno permitiría la reactividad cruzada entre parásitos, que tendría como ventaja la eficacia de un producto de amplio espectro (vacuna o medicamento) al poder atacar varios agentes parasitarios en una población poliparasitada. Por el contrario, como desventaja se destaca la inespecificidad del inmunodiagnóstico reflejada como falsos positivos por reactividad cruzada, detectándose anticuerpos o antígenos compartidos que no pertenecen propiamente al agente sospechado. Adicionalmente, la respuesta inmune a un agente patógeno puede dirigirse contra tejidos del propio huésped, desencadenando fenómenos de autoinmunidad. En esquistosomiasis se han desarrollado técnicas de inmunoensayo de mejor especificidad que las tradicionales. Sin embargo, siendo Venezuela un país en el cual coexisten áreas endémicas donde se solapan infecciones parasitarias tales como esquitosomiasis, nematodes intestinales y cisticercosis, se presentan inconvenientes de sobreestimación de prevalencias ocasionando limitaciones en el tratamiento masivo con praziquantel y confusión en la definición de verdaderos casos de esquistosomiasis o cisticercosis. Investigaciones tendientes a mejorar el inmunodiagnóstico disminuyendo los falsos positivos, mediante ensayos de captura de anticuerpos y antígenos para ambos parasitosis, se desarrollan en la actualidad

Increased susceptibility to tumorigenesis of ski-deficient heterozygous mice.

The c-ski proto-oncogene product (c-Ski) acts as a co-repressor and binds to other co-repressors N-CoR/SMRT and mSin3A which form a complex with histone deacetylase (HDAC). c-Ski mediates the transcriptional repression by a number of repressors, including nuclear hormone receptors and Mad. c-Ski also directly binds to, and recruits the HDAC complex to Smads, leading to inhibition of tumor growth factor-beta (TGF-beta) signaling. This is consistent with the function of ski as an oncogene. Here we show that loss of one copy of c-ski increases susceptibility to tumorigenesis in mice. When challenged with a chemical carcinogen, c-ski heterozygous mice showed an increased level of tumor formation relative to wild-type mice. In addition, c-ski-deficient mouse embryonic fibroblasts (MEFs) had increased proliferative capacity, whereas overexpression of c-Ski suppressed the proliferation. Furthermore, the introduction of activated Ki-ras into c-ski-deficient MEFs resulted in neoplastic transformation. These findings demonstrate that c-ski acts as a tumor suppressor in some types of cells. The level of cdc25A mRNA, which is down regulated by two tumor suppressor gene products, Rb and Mad, was upregulated in c-ski-deficient MEFs, whereas it decreased by overexpressing c-Ski in MEFs. This is consistent with the fact that c-Ski acts as a co-repressor of Mad and Rb. These results support the view that the decreased activities of Mad and Rb in ski-deficient cells at least partly contribute to enhanced proliferation and susceptibility to tumorigenesis. Human c-ski gene was mapped to a region close to the p73 tumor suppressor gene at the 1p36.3 locus, which is already known to contain multiple uncharacterized tumor suppressor genes.

Revascularización cerebral mediante encéfalo arterio sinangiosis en el tratamiento de accidentes cerebrovasculares isquémicos: experiencia del Hospital de Niños J. M de Los Ríos: reporte de cuatro casos / Sinangiosis artherio brain in the treatment of ischemic cerebrovascular accidents: experience of the J. M de Los Ríos Hospital: report of 4 cases

Se reportaron los resultados de la encéfalo-arterio-sinangiosis en el tratamiento quirúrgico de la isquemia cerebral en el Hospital de Niños "J.M de Los Ríos". Caracas. Es liberada una arteria del cuero cabelludo (arteria temporal superficial) y puesta en contacto con la corteza cerebral, después de una craneotomía y apertura de la duramadre. Cuatro cirugías fueron realizadas en un período de dos años. Se analizaron los resultados, ventajas e indicaciones de este tipo de cirugía

Schistosoma mansoni: immunodiagnosis is improved by sodium metaperiodate which reduces cross-reactivity due to glycosylated epitopes of soluble egg antigen.

ELISA with soluble egg antigen (SEA) from Schistosoma mansoni is widely used in the diagnosis of schistosomiasis, but cross-reactivity with other intestinal helminths, overestimating the true prevalence, represents a great limitation. The role of glycoproteins of SEA in cross-reactions was investigated. SEA was oxidized with sodium metaperiodate (SMP) in ELISA and immunoblot. One hundred schistosomiasis-negative individuals sera were submitted to SMP-ELISA improving the specificity from 73% without SMP treatment to 97% with SMP. On the other hand, 94 S. mansoni-positive sera were evaluated showing that 99% were positive in ELISA either with or without SMP treatment, indicating the maintenance of high sensitivity under SMP treatment. By immunoblot, 24 sera from persons with schistosomiasis and 10 sera from schistosomiasis-free persons were assayed under reducing and nonreducing conditions with or without SMP, looking for specific infection markers and cross-reactivity markers. Reactivity from positive sera showed that specific molecules were mainly low-molecular-mass antigens and seem to have predominant proteic epitopes. The unspecific molecules reacting with some schistosomiasis-negative individuals harboring other intestinal parasites (false-positive sera) were mostly larger than 60 kDa and seemed to be basically glycosylated. Glycosylated epitopes have an important role in cross-reaction and SMP can successfully be used to reduce the false reactivity of SEA with no decrease in sensitivity, especially in ELISA as an immunodiagnostic screening surveillance method, which is useful in areas of low schistosomiasis transmission.

Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.

The phylogenetically conserved nuclear factor I (NFI) family of transcription/replication proteins is essential both for adenoviral DNA replication and for the transcription of many cellular genes. We showed previously that the four murine NFI genes (Nfia, Nfib, Nfic, and Nfix) are expressed in unique but overlapping patterns during mouse development and in adult tissues. Here we show that disruption of the Nfia gene causes perinatal lethality, with >95% of homozygous Nfia(-/-) animals dying within 2 weeks after birth. Newborn Nfia(-/-) animals lack a corpus callosum and show ventricular dilation indicating early hydrocephalus. Rare surviving homozygous Nfia(-/-) mice lack a corpus callosum, show severe communicating hydrocephalus, a full-axial tremor indicative of neurological defects, male-sterility, low female fertility, but near normal life spans. These findings indicate that while the Nfia gene appears nonessential for cell viability and DNA replication in embryonic stem cells and fibroblasts, loss of Nfia function causes severe developmental defects. This finding of an NFI gene required for a developmental process suggests that the four NFI genes may have distinct roles in vertebrate development.

Ski is a component of the histone deacetylase complex required for transcriptional repression by Mad and thyroid hormone receptor.

The N-CoR/SMRT complex containing mSin3 and histone deacetylase (HDAC) mediates transcriptional repression by nuclear hormone receptors and Mad. The proteins encoded by the ski proto-oncogene family directly bind to N-CoR/SMRT and mSin3A, and forms a complex with HDAC. c-Ski and its related gene product Sno are required for transcriptional repression by Mad and thyroid hormone receptor (TRbeta). The oncogenic form, v-Ski, which lacks the mSin3A-binding domain, acts in a dominant-negative fashion, and abrogates transcriptional repression by Mad and TRbeta. In ski-deficient mouse embryos, the ornithine decarboxylase gene, whose expression is normally repressed by Mad-Max, is expressed ectopically. These results show that Ski is a component of the HDAC complex and that Ski is required for the transcriptional repression mediated by this complex. The involvement of c-Ski in the HDAC complex indicates that the function of the HDAC complex is important for oncogenesis.

Selective restoration of male fertility in mice lacking angiotensin-converting enzymes by sperm-specific expression of the testicular isozyme.

Although angiotensin-converting enzyme (ACE) has been studied primarily in the context of its role in blood pressure regulation, this widely distributed enzyme has many other physiological functions. The ACE gene encodes two isozymes. The somatic isozyme is expressed in many tissues, including vascular endothelial cells, renal epithelial cells, and testicular Leydig cells, whereas the testicular or germinal angiotensin-converting enzyme is expressed only in sperm. The ACE gene knockout mice lack both isozymes and they exhibit low blood pressure, kidney dysfunctions, and male infertility. Here, we report the use of a sperm-specific promoter and interbreeding of transgenic and gene knockout mice for generating a mouse strain that expressed ACE only in sperm. The experimental mice maintained the kidney defects of ACE-/- mice, but unlike the knockout strain, the males were fertile. Thus, we established that the role of ACE in male fertility is completely dependent on its exclusive expression in sperm. Our study clearly demonstrated how transgenic and knockout techniques can be combined for ascribing a specific physiological function to the expression of a multifunctional protein in a given tissue.

Interferon action and apoptosis are defective in mice devoid of 2',5'-oligoadenylate-dependent RNase L.

2',5'-Oligoadenylate-dependent RNase L functions in the interferon-inducible, RNA decay pathway known as the 2-5A system. To determine the physiological roles of the 2-5A system, mice were generated with a targeted disruption of the RNase L gene. The antiviral effect of interferon alpha was impaired in RNase L-/- mice providing the first evidence that the 2-5A system functions as an antiviral pathway in animals. In addition, remarkably enlarged thymuses in the RNase L-/- mice resulted from a suppression of apoptosis. There was a 2-fold decrease in apoptosis in vivo in the thymuses and spleens of RNase L-/- mice. Furthermore, apoptosis was substantially suppressed in RNase L-/- thymocytes and fibroblasts treated with different apoptotic agents. These results suggest that both interferon action and apoptosis can be controlled at the level of RNA stability by RNase L. Another implication is that the 2-5A system is likely to contribute to the antiviral activity of interferon by inducing apoptosis of infected cells.