Differential neuropsychological profiles in children and adolescents with motor disability in an inclusive educational setting.

The aim of this study was to determine the potential cognitive impairment associated with motor disability in a group of children attending regular schools and to analyze whether there were different cognitive profiles according to the type of motor disability they presented. The study had 87 participants, 31 healthy and 56 with three types of motor disability: Neuromuscular Diseases (NMD Group), Cerebral Palsy-Hemiparesis (CP- HPx Group) and Cerebral Palsy-Diplegia (CP-DP). Ages ranged from 6 to 18 years and they had medium and medium-high socioeconomic and cultural levels. All participants attended regular state-funded and independent schools in an inclusive modality. The neuropsychological assessment included the following cognitive domains: processing speed, working memory, verbal and visual episodic memory, language, visuo-perception and constructive praxis and executive functioning. A second analysis was performed with the groups with CP: one based on the severity of gross motor impairment (GMFCS-E&R scale) and the other based on the levels of manual dexterity (MACS scale). ANCOVAs were performed controlling for age and processing speed in the three analyses. The group with CP-HPx was shown to be the most cognitively impaired of the three groups, with significant deficits in visuo-perception, verbal working memory, and visuo-spatial memory. Subjects with greater gross motor dysfunction (GMFCS-E&R) did not show the greatest cognitive impairment, while those with worse manual dexterity (MACS) exhibited greater cognitive impairment. Children and adolescents with motor disabilities, a priori cognitively normal, present different levels of cognitive impairment. This should be considered when planning educational adaptations for this infant-juvenile population.

Utilidad de la citología de orina para el diagnóstico del carcinoma vesical: estudio comparativo con biopsia / Usefulness of urine cytology for bladder carcinoma diagnosis: comparative study with biopsy

Objetivo: La citología de orina se ha considerado la técnica de elección para el cribado de carcinoma vesical. La existencia de otros métodos diagnósticos adicionales, han puesto en duda su utilidad. Aportamos un estudio comparativo cito-histológico para comprobar su valor. Método: Hemos realizado un estudio retrospectivo de 109 biopsias vesicales en relación con los diagnósticos citológicos previos. Todas las citologías eran de micción espontánea, procesadas por citocentrifugación y teñidas con Papanicolaou. Resultados: Encontramos 70 casos verdaderos positivos, y 24 casos verdaderos negativos, consiguiendo una sensibilidad del 97% y una especificidad del 96-100%. Destacando que 12 casos positivos tenían la primera cistoscopia y biopsia negativa, diagnosticándose la neoplasia en la segunda biopsia. Conclusiones: Los pacientes con citologías de orina claramente positivas, que no se confirman en una primer estudio citoscópico, deben ser seguidos, para identificar una posible neoplasia vesical o de vías urinarias altas. La citología de orina puede seguir considerándose como una técnica de elección para el cribado y control de neoplasia vesical (AU)

Objectives: Traditionally, urine cytology has been considered as the gold standard for bladder cancer screening. However, new methods are playing new roles in these cases. In order to assess the value of cytology of voided urine we performed one comparative study between cytology and biopsy. Methods: We retrospectively analyzed the results of urine cytology and biopsy follow-up in 109 patients. All cytologies were from voided urine. They were cytocentrifuged and stained with Papanicolaou stain. Results: We found 70 true positive cases and 24 true negative cases. Sensitivity was calculated to be 97% and specifity 96-100%. 12 cases had the first cystoscopy test and biopsy negative, as the cancer was diagnosed in the second biopsy. Conclusions: Patients with clearly positive urine cytology, which was not confirmed in a first cystoscopic study, should be carefully followed up to identify a possible bladder or upper urinary tract cancer. The urine cytology still has a significant role as the gold standard for bladder cancer screening (AU)

A search for cyclophilin-A gene (PPIA) variation and its contribution to the risk of atherosclerosis and myocardial infarction.

Cyclophilin A is secreted by vascular smooth muscle cells in response to inflammatory stimuli, and could thus contribute to atherosclerosis. We hypothesized that the genetic variation at the cyclophilin A gene (PPIA) could affect the risk for developing atherosclerosis and myocardial infarction. This study included 250 myocardial infarction patients (all male and < 60 years; 95% are smokers). All these cases had at least one atherosclerotic diseased coronary vessel. DNA was obtained from patients and from 250 healthy controls. The variation at the PPIA gene was determined in the patients through single-strand conformation analysis and direct sequencing of seven polymerase chain reaction fragments. Allele and genotype frequencies were compared between patients and controls. The effect of a promoter polymorphism (-11 G/C) on gene expression was in vitro analysed with luciferase-reporter assays. We found two common polymorphisms in the PPIA promoter (-11 G/C) and the 5' non-translated (+36 G/A) regions. Cells transfected with luciferase-plasmids containing the -11 G had significantly higher luciferase activity. Genotype frequencies for these polymorphisms did not differ between patients and controls. In conclusion, we reported a functional variant in the PPIA promoter. However, the PPIA variation did not significantly contribute to the risk of suffering from myocardial infarction among patients with atherosclerotic diseased vessels.

A new de novo Notch3 mutation causing CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in these patients. Missense mutations in the Notch3 gene that create or destroy cysteine residues, have been found in most cases with a family history of the disease, although a few sporadic cases harbouring Notch3 mutations have also been described. Here, we describe a 44-year-old patient with clinical features of CADASIL who was a carrier of a new Notch3 mutation: cys128-->gly. Both parents were alive and healthy, and negative for the mutation. This case illustrates the interest of analysing the Notch3 gene in cases with clinical features of CADASIL, even in the absence of a family history of the disease.

The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction.

BACKGROUND: A myocyte enhancer factor 2A (MEF2A) mutation that segregated with coronary artery disease/myocardial infarction (CAD/MI) in a large family has recently been described. Missense mutations in sporadic coronary artery disease patients were also reported. These data suggest that mutations in exons 7 and 11 of MEF2A cause CAD/MI, though the association was refuted by another study. OBJECTIVE: To analyse the genetic variation of exons 7 and 11 in a large cohort of Spanish CAD/MI patients and controls. METHODS AND RESULTS: A rare polymorphism, P279L, was detected both in patients and controls. Carriers of the 279Leu allele had a threefold risk of suffering CAD/MI compared with controls (p = 0.009; odds ratio = 3.06 (95% confidence interval, 1.17 to 8.06)). In the controls the allele was found only in those under 50 years of age. Exon 11 showed a high degree of heterogeneity caused by a polyglutamine (CAG)n polymorphism, but no significant differences in genotype or allelic frequencies were found. CONCLUSIONS: The 279Leu allele appears to be a genetic risk factor for CAD/MI in the population studied. This effect could be the result of a reduced transcriptional activity on MEF2A with 279Leu.

Titanium alkali metal nitrido complexes.

Treatment of [(Ti(eta5-C5Me5)(mu-NH))3(mu3-N)] with alkali metal bis(trimethylsilyl)amido reagents in toluene afforded the complexes [M(mu3-N)(mu3-NH)2[Ti3(mu5-C5Me5)3(mu3-N)]]2 (M = Li (2), Na, (3), K (4)). The molecular structures of 2 and 3 have been determined by X-ray crystallographic studies and show two azaheterometallocubane cores [MTi3N4] linked by metal-nitrogen bonds. Reaction of the lithium derivative 2 with chlorotrimethylsilane or trimethyltin chloride in toluene gave the incomplete cube nitrido complexes [Ti3(eta5-C5Me5)3(mu-NH)2(mu-NMMe3)(mu3-N)] (M = Si (5), Sn (6)). A similar reaction with indium(I) or thallium(I) chlorides yielded cube-type derivatives [M(mu3-N)(mu3-NH)2[Ti(eta5-C5Me5)3(mu3-N)] (M=In (7), Tl (8)).

N-Cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry.

Within the bilaterally symmetric vertebrate body plan, many organs develop asymmetrically. Here, it is demonstrated that a cell adhesion molecule, N-cadherin, is one of the earliest proteins to be asymmetrically expressed in the chicken embryo and that its activity is required during gastrulation for proper establishment of the left-right axis. Blocking N-cadherin function randomizes heart looping and alters the expression of Snail and Pitx2, later components of the molecular cascade that regulate left-right asymmetry. However, the expression of other components of this cascade (Nodal and Lefty) was unchanged after blocking N-cadherin function, suggesting the existence of parallel pathways in the establishment of left-right morphogenesis. Here, the results suggest that N-cadherin-mediated cell adhesion events are required for establishment of left-right asymmetry.

Induction and differentiation of the neural crest.

The neural crest is a population of cells that forms at the junction between the epidermis and neural plate in vertebrate embryos. Recent progress has elucidated the identity and timing of molecular events responsible for the earliest steps in neural crest development, particularly those involving the induction and its migration. Concomitantly, advances have been made in the identification, purification and generation of neural crest stem cells at various developmental stages that deepens our understanding of the plasticity and restriction of neural crest differentiation.

Effects of Shh and Noggin on neural crest formation demonstrate that BMP is required in the neural tube but not ectoderm.

To define the timing of neural crest formation, we challenged the fate of presumptive neural crest cells by grafting notochords, Sonic Hedgehog- (Shh) or Noggin-secreting cells at different stages of neurulation in chick embryos. Notochords or Shh-secreting cells are able to prevent neural crest formation at open neural plate levels, as assayed by DiI-labeling and expression of the transcription factor, Slug, suggesting that neural crest cells are not committed to their fate at this time. In contrast, the BMP signaling antagonist, Noggin, does not repress neural crest formation at the open neural plate stage, but does so if injected into the lumen of the closing neural tube. The period of Noggin sensitivity corresponds to the time when BMPs are expressed in the dorsal neural tube but are down-regulated in the non-neural ectoderm. To confirm the timing of neural crest formation, Shh or Noggin were added to neural folds at defined times in culture. Shh inhibits neural crest production at early stages (0-5 hours in culture), whereas Noggin exerts an effect on neural crest production only later (5-10 hours in culture). Our results suggest three phases of neurulation that relate to neural crest formation: (1) an initial BMP-independent phase that can be prevented by Shh-mediated signals from the notochord; (2) an intermediate BMP-dependent phase around the time of neural tube closure, when BMP-4 is expressed in the dorsal neural tube; and (3) a later pre-migratory phase which is refractory to exogenous Shh and Noggin.

Early stages in male germ cell differentiation in the mouse. Review article.

Primordial germ cells arise during gastrulation and migrate from the hindgut into the gonad primordium during early organogenesis. In this article, we discuss factors that control migration, proliferation and targeting of the PGCs. In particular we discuss how changes in adhesiveness control germ cell positioning in the gonad, and the molecules involved.

Interactions between germ cells and extracellular matrix glycoproteins during migration and gonad assembly in the mouse embryo.

Cells are known to bind to individual extracellular matrix glycoproteins in a complex and poorly understood way. Overall strength of adhesion is thought to be mediated by a combinatorial mechanism, involving adhesion of a cell to a variety of binding sites on the target glycoproteins. During migration in embryos, cells must alter their overall adhesiveness to the substrate to allow locomotion. The mechanism by which this is accomplished is not well understood. During early development, the cells destined to form the gametes, the primordial germ cells (PGCs), migrate from the developing hind gut to the site where the gonad will form. We have used whole-mount immunocytochemistry to study the changing distribution of three extracellular matrix glycoproteins, collagen IV, fibronectin, and laminin, during PGC migration and correlated this with quantitative assays of adhesiveness of PGCs to each of these. We show that PGCs change their strength of adhesion to each glycoprotein differentially during these stages. Furthermore, we show that PGCs interact with a discrete tract of laminin at the end of migration. Closer analysis of the adhesion of PGCs to laminin revealed that PGCs adhere particularly strongly to the E3 domain of laminin, and blocking experiments in vitro suggest that they adhere to this domain using a cell surface proteoglycan.

HLA-DR class II and ICAM-1 expression on tubular cells taken by fine-needle aspiration biopsy in renal allograft dysfunction.

BACKGROUND: Percutaneous biopsy is the method of choice for differential diagnosis of renal allograft dysfunction, although it is not risk-free. The use of less aggressive methods for diagnosis should limit the need for percutaneous biopsy to some specific situations. METHODS: We analysed 42 fine-needle aspiration biopsies from 36 kidney allograft recipients immunosuppressed with quadruple sequential therapy who suffered renal allograft dysfunction. Seven cases with stable renal function were used as controls and included as non-rejection cases in the analysis. In all aspirates the Corrected Increment was calculated and an immunocytochemical analysis of renal tubular cells with the monoclonal antibodies HLA-DR and ICAM-1 was performed. RESULTS: The Corrected Increment was increased in 13 out of 18 acute rejection cases and in one out of 31 non-rejection cases. HLA-DR expression was found in more than 30% of tubular cells from the aspirates in 16 out of 18 acute rejection cases and in eight out of 31 cases without rejection (P < 0.001). ICAM-1 expression was detected in more than 30% of tubular cells in 14 out of 18 cases with acute rejection, and in four out of 31 cases without acute rejection (P < 0.001). Interestingly, all acute vascular rejection cases (n = 6), and six out of 12 acute cellular rejection cases expressed both, HLA-DR and ICAM-1, in more than 30% of tubular cells. On the other hand, none of the non-rejection allograft dysfunctions or control samples showed more than 30% of tubular cells immunostained with both HLA-DR and ICAM-1 antibodies. CONCLUSIONS: The immunocytochemical analysis of HLA-DR and ICAM-1 on renal tubular cells taken by fine-needle aspiration biopsy, allows the diagnosis of acute cellular rejection and acute vascular rejection even when the Corrected Increment is not increased. Moreover, the risk of a core renal biopsy can be avoided when both tests are negative since an acute rejection is a remote possibility.

Interactions between primordial germ cells play a role in their migration in mouse embryos.

Primordial germ cells (PGCs) are the founder cell population of the gametes which form during the sexually mature stage of the life cycle. In the mouse, they arise early in embryogenesis, first becoming visible in the extraembryonic mesoderm, posterior to the primitive streak, at 7.5 days post coitum (d.p.c.). They subsequently become incorporated into the epithelium of the hind gut, from which they emigrate (9.5 d.p.c.) and move first into the dorsal mesentery (10.5 d.p.c.), and then into the genital ridges that lie on the dorsal body wall (11.5 d.p.c.). We have used confocal microscopy to study PGCs stained with an antibody that reacts with a carbohydrate antigen (Stage-Specific Embryonic Antigen-1, SSEA-1) carried on the PGC surface. This allows the study of the whole PGC surface, at different stages of their migration. The appearance of PGCs in tissue sections has given rise to the conventional view that they migrate as individuals, each arriving in turn at the genital ridge. In this paper, we show that PGCs leave the hind gut independently, but then extend long (up to 40 microns) processes, with which they link up to each other to form extensive networks. During the 10.5-11.5 d.p.c. period, these networks of PGCs aggregate into groups of tightly apposed cells in the genital ridges. As this occurs, their processes are lost, and their appearance suggests they are now non-motile. Furthermore, we find that PGCs taken from the dorsal mesentery at 10.5 d.p.c. perform the same sequence of movements in culture.(ABSTRACT TRUNCATED AT 250 WORDS)

Psychosocial attributes and life experiences of disadvantaged minority mothers: age and ethnic variations.

This study examined age and ethnic differences in psychosocial factors among hispanic (n = 210) and black (n = 73) low-income mothers within 2 days after delivery. The sample included 45 black and 99 hispanic adolescents (less than 19 years) and 139 adult controls (greater than or equal to 20 years) giving birth on the service ward at a large metropolitan hospital, excluding mothers and infants with high parity or adverse perinatal conditions. Multivariate and univariate analyses, with parity covaried, revealed age effects including earlier menarche, more school grade retention, and more perceived social support among teens. No age differences were found in child-rearing attitudes, self-esteem, or depressive symptoms. Black mothers reported more social support, higher self-esteem, and less strict child-rearing attitudes than hispanics. Analyses within the hispanic sample revealed Dominican/Puerto Rican group differences in measures of family structure and child-rearing attitudes, but only small differences in social support. Ethnocultural differences between blacks and hispanics and between the two hispanic subgroups are considered in relation to the process of acculturation.

Migrant women: issues in organization and solidarity.

PIP: To understand the situation of migrant women and their increased vulnerability, it is necessary to consider the structural factors--economic, political, and cultural--that have impelled the movement of labor, and specifically of women, from developing to developed, and also within capitalist countries. Unequal access to land and other resources has been the historic cause of rural men and women migrating, but it is the internationalization of former agrarian economies and their increased dependence on the world economic system that stand out as important new factors. In the US, about 40% of the women in domestic service work are Black women and the rest are predominantly foreigners, especially Latin Americans, Caribbeans, and to a lesser degree, Asians. Contrary to the myth that migrant women have been a passive labor force, the history of the garment industry shows that they have been in the forefront of labor issues in many developed nations. There is a need to guarantee conditions that will enable women to organize and work in labor and migrant organizations and still protect their special characteristics as women. Women migrants, because of their conditions as women and because of their status as citizens without citizenship, especially when they are undocumented, are greatly in need of a solidarity group to educate national populations of migrant worker's rights. It is essential to guarantee the autonomy of migrant women's organization without interfering with their specific demands, considering their race, nationality, and social class.^ieng