Influence of cognitive impairment on the freezing of gait in non demented people with Parkinson's disease. / Influencia del deterioro cognitivo en la congelacion de la marcha en pacientes con enfermedad de Parkinson sin demencia.

INTRODUCTION: Freezing of gait (FOG) is a motor disturbance usually appearing in advanced Parkinson's disease (PD). Cognitive and executive function seems to play an important role in this phenomenon. AIM: To investigate if cognitive and kinematic parameters correlate with FOG in PD patients without dementia. PATIENTS AND METHODS: We conducted an observational cross-sectional study. Participants were classified in two groups: freezers and non-freezers. Clinical information was obtained by Hoehn and Yahr scale, Unified Parkinson's Disease Rating Scale and balance test of Short Physical Performance Battery. Cognitive function was evaluated using Minimental Examination and the Fuld Object Memory Evaluation; executive function was assessed with the Frontal Assessment Battery test. Battery kinematic parameters were assessed by means of gait speed, cadence, stride length and stride time. RESULTS: Twenty-five participants with PD without dementia completed the evaluation. Statistical significant differences between freezers and non-freezers were found in global cognition (p = 0,02), memory (p = 0,04), executive function (p = 0,04), cadence (p = 0,02), stride length (p = 0,04) and stride time (p = 0,01). CONCLUSION: Cognitive parameters may have an important contribution to the manifestation of freezing of gait in PD. These results may have important clinical implications for developing future non-pharmacological and cognitive interventions strategies targeted to PD patients with FOG.

TITLE: Influencia del deterioro cognitivo en la congelacion de la marcha en pacientes con enfermedad de Parkinson sin demencia.Introduccion. La congelacion de la marcha (CDM) es una alteracion motora que suele aparecer en estadios avanzados de la enfermedad de Parkinson (EP). Las funciones cognitivas y ejecutivas parecen tener un papel importante en la aparicion de este fenomeno. Objetivo. Investigar si los parametros cognitivos y cinematicos se correlacionan con la CDM en pacientes con EP sin demencia. Pacientes y metodos. Estudio observacional y transversal. Los participantes se clasificaron en dos grupos: con y sin CDM. La informacion clinica se obtuvo mediante la escala de Hoehn y Yahr, la Unified Parkinson's Disease Rating Scale y la prueba de equilibrio de la Short Physical Performance Battery. La funcion cognitiva se valoro con el miniexamen cognitivo y la Fuld Object Memory Evaluation, y la funcion ejecutiva, con la Frontal Assessment Battery. Los parametros cinematicos se valoraron mediante la velocidad de la marcha, la cadencia, la longitud del paso y el tiempo del paso. Resultados. Veinticinco participantes con EP sin demencia completaron el programa. Se encontraron diferencias estadisticamente significativas entre individuos con y sin CDM en cognicion global (p = 0,02), memoria (p = 0,04), funcion ejecutiva (p = 0,04), cadencia (p = 0,02), longitud del paso (p = 0,04) y tiempo del paso (p = 0,01). Conclusion. Diversos parametros cognitivos pueden contribuir de forma importante en la aparicion de la CDM en la EP. Estos resultados pueden tener implicaciones clinicas relevantes para el desarrollo de estrategias e intervenciones no farmacologicas y cognitivas dirigidas a pacientes con EP y con CDM.

Colestasis neonatal: reporte de 21 casos en un hospital infantil de Cartagena, Colombia / Report of 21 Cases of Neonatal Cholestasis in a Children’s Hospital in Cartagena, Colombia

La colestasis es una alteración en el flujo biliar que se presenta por la disminución o el cese de excreción biliar. En la actualidad, son pocos los estudios en Colombia sobre esta patología. Se presentan 21 casos de colestasis neonatal en un hospital infantil de la ciudad de Cartagena (Colombia) entre 2010 y 2013, con el objetivo de caracterizar la etiología y clínica de la enfermedad. Se seleccionaron los pacientes entre 0 y 3 meses de edad con bilirrubina directa >2 mg/dL. En este estudio se encontró que según el género, el 52,4% fueron de sexo masculino y el 47,6%, de sexo femenino. La edad gestacional predominante fue a término en el 76,2% y sin antecedentes perinatales en el 57,1%. Los hallazgos clínicos se presentaron en los primeros 30 días de nacido en un 71% y 4 pacientes fueron remitidos a trasplante hepático. La etiología más frecuente fue de tipo infeccioso en 13 de los pacientes estudiados y 4 pacientes se relacionaron con atresias. La causa más frecuente de colestasis neonatal en este estudio resultó estar asociada con etiologías infecciosas. Sin embargo, las alteraciones obstructivas, como la atresia de vías biliares, siguen ocupando un renglón importante y requieren un estudio y manejo prioritario, dado su mejor pronóstico relacionado con la intervención temprana.

Cholestasis is an alteration in the flow of bile resulting from decreases or cessation of biliary excretion. To date, there have been only a few studies on this topic in Colombia. This article presents twenty-one cases of neonatal cholestasis from a Children’s Hospital in Cartagena, Colombia that occurred between 2010 and 2013. The aim of this study is to characterize the etiology and clinical characteristics of the disease. Patients between birth and 3 months old with direct bilirubin levels over 2 mg/dl were selected. By gender, 52.4% of the patients were male, and 47.6% were female. 76.2% of the patients were full term, and 57.1% had no perinatal antecedents. Clinical symptoms presented in the first 30 days after birth in 71% of the patients, and 4 patients were referred for liver transplantation. The most common etiology was infectious (13 patients), and 4 patients had atresia. The most common cause of neonatal cholestasis in this study was infection, but obstructive disorders such as biliary atresia still account for an important proportion of the patients. They require priority study and handling because early intervention results in better prognoses.

Exclusion of linkage between bipolar affective disorder and chromosome 16 in 12 Australian pedigrees.

Several recent reports of possible susceptibility loci for bipolar affective disorder (BAD) have identified sites on a number of chromosomes. Specifically, two Danish studies have suggested the presence of a susceptibility locus for BAD on chromosome 16p13. As the first step of a whole genome scan, we screened 12 Australian families with markers at 16p13 and also a number of markers spanning the entirety of chromosome 16. Linkage analysis was undertaken using both the parametric lod score method (two- and multipoint) with different models and diagnostic thresholds, and the nonparametric affected pedigree member (APM) method. Results of lod score analysis convincingly excluded the 16p13 region from linkage to BAD in these families, while APM provided no support for linkage. Furthermore, using the broad definition of BAD, with individuals affected by bipolar I and II and recurrent unipolar disorders included, the entire chromosome was excluded from linkage to BAD with autosomal-dominant transmission at a maximum age-specific penetrance of 60%, and with autosomal-dominant and recessive modes of transmission at a maximum age-specific penetrance level of 90%. Diagnostic thresholds which did not include unipolar affected individuals were somewhat less informative. However, a majority (between 63-96%, depending upon the model) of the chromosome was clearly excluded using narrow diagnostic thresholds. Moreover, no positive lod scores were obtained at theta = 0.00 for any tested model or diagnostic threshold. Our results indicate that no linkage exists between BAD and chromosome 16 markers in this group of Australian families.

Exclusion of close linkage of bipolar disorder to the Gs-alpha subunit gene in nine Australian pedigrees.

Growing evidence suggests that guanine nucleotide binding proteins (G proteins) may be involved in both the pathogenesis and treatment of bipolar affective disorder. Both overactive G proteins and increased levels of the alpha subunit of the stimulatory form (Gs-alpha) have been demonstrated in peripheral leucocytes of manic patients while an increase of Gs-alpha subunit levels has also been found in a postmortem study of bipolar disorder. The function of Gs and Gi alpha subunits has now been shown to be affected by lithium. The present study aimed to determine whether bipolar affective disorder was linked to the Gs-alpha subunit gene which has been mapped to chromosomal region 20q13.2. Linkage analysis utilized the PCR amplification of a portion of the Gs-alpha gene that contains a dinucleotide repeat (CA repeat) polymorphism. Linkage of bipolar disorder and recurrent depression to the Gs-alpha subunit gene was tested using a series of autosomal dominant and recessive models with varying penetrance levels. Additionally, linkage was examined using a series of levels of definitions of affective illness. Close linkage to the Gs-alpha subunit gene was strongly excluded using each model and definition. Thus, our study indicates that a genetic defect in the Gs-alpha subunit gene is unlikely to be the cause of bipolar disorder.

Diurnal intraocular pressure variation in low-tension glaucoma.

A retrospective analysis of diurnal variation in intraocular pressure (IOP) in 101 untreated low-tension glaucoma (LTG) patients was carried out to ascertain the role of IOP as a causative factor in the aetiology of optic nerve damage in LTG. The diagnosis of LTG was made only after IOP monitoring as an inpatient, which involved 2 hourly consecutive measurements by Goldmann applanation tonometry from 08:00 to 22:00 hours inclusive. The highest IOP during the diurnal curve was 17.4 mmHg (SD 3.00) at 10:00 and the lowest value was 15.0 mmHg (SD 2.7) at 22:00. Seventy-seven per cent of patients had a peak IOP value recorded between 08:00 and 12:00 hours inclusive. The mean peak IOP was 18.3 mmHg (SD 2.6) and the mean trough was 13.1 mmHg (SD 2.2). Thus the mean diurnal range in IOP of 5.2 mmHg (SD 2.2) was similar to that reported by other workers in normals. Neither the diurnal pattern nor the range of IOP values seen in this study supports the view that abnormal IOP levels are a significant risk factor in the pathogenesis of optic nerve damage in all patients with LTG.

Exclusion of close linkage of bipolar disorder to the dopamine D3 receptor gene in nine Australian pedigrees.

The recently cloned dopamine D3 receptor (DRD3) gene is of potential relevance to the aetiology of bipolar disorder because of an almost exclusive expression in limbic tissue, the region of the brain putatively responsible for control of emotion. We therefore aimed to determine whether bipolar disorder in nine pedigrees (with 171 members) was linked to this receptor gene, which has been mapped to chromosomal region 3q 13.3. Linkage of bipolar disorder and recurrent depression to the DRD3 gene was tested using a series of autosomal dominant and recessive models with varying penetrance levels. Additionally, linkage was examined using a series of levels of definitions of affective illness (ranging from bipolar I alone to all affective disorders). Close linkage to the DRD3 gene was strongly excluded using each model and definition, and these conclusions persisted when a wide range of rates of 'sporadic' (non-genetic) presentations of illness were incorporated in the analysis.

Genomic organization, localization, and allelic differences in the gene for the human neuropeptide Y Y1 receptor.

A 14-kilobase pair (kb) region of genomic DNA encoding the human neuropeptide Y Y1-receptor gene including 3'- and 5'-flanking sequences has been cloned and the human gene localized to chromosome 4q(31.3-32). In contrast to the contiguous structure of most G protein-coupled receptor genes, the NPY Y1 receptor gene is divided into three exons. A small 5'-exon of the mRNA untranslated region is separated by a 6-kb intron from the second exon. The coding region of the receptor is interrupted by a small intron, containing an in-frame stop codon, shortly after the proposed fifth transmembrane domain. In the 5'-flanking region a potential cAMP-response element and an AP-2 site, in addition to a TATA-like sequence and a typical CAAT, box are present. A single point mutation within the 6-kb intron generates a PstI polymorphic site with a highly informative allele frequency of 54:46% in the population.

Ab interno pulsed dye laser sclerostomy for the treatment of glaucoma: preliminary results of a new technique.

Ab interno gonioscopic laser sclerostomy in conjunction with iontophoretic staining of the sclera was performed on 12 patients with end-stage glaucoma in order to ascertain the feasibility of the technique. In 9 of 12 patients (75%) a visible sclerostomy was formed and mean intraocular pressure (IOP) dropped from 36.3 mmHg prior to treatment to 25.3 mmHg at 1 week, a fall of 30.3%. The drop in IOP was maintained throughout a 3-month follow-up period, with 6 of 11 patients having IOP controlled below 21 mmHG. The procedure is described together with our preliminary results, and possible advantages and areas of improvement for the technique are discussed.

Exclusion of close linkage of bipolar disorder to dopamine D1 and D2 receptor gene markers.

A potential role of dopamine in bipolar disorder has been suggested by several strands of evidence, namely the ability of dopaminergic agonists to induce mania and the effects of lithium, carbamazepine and the antipsychotics on central dopamine receptors and/or turnover. We therefore aimed to determine if bipolar disorder in two large bipolar pedigrees was linked to the recently cloned dopamine D1 (DRD1) and D2 (DRD2) receptors. (These have been mapped to chromosomal regions 5q35.1 and 11q22.3-q23, respectively). Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels. Additionally, linkage was examined using a series of levels of definitions of affective status (ranging from bipolar I alone to all affective illnesses). Close linkage to these markers was strongly excluded using each model and definition. The findings for DRD1 also persisted when a wide range of rates of 'sporadic' (non-genetic) presentations of illness were incorporated in the analysis, but the DRD2 results did not remain statistically significant at high sporadic rates. The exclusion of linkage to DRD2 is consistent with other recent reports.

Reconstruccion de Vejiga / Several technics of sustitution of Tuberculous bladder retraction

Se revisan diferentes técnicas de sustitución vesical por retracción tuberculosa. Se presentan 33 casos de colocistoplastia como tratamiento de elección para la retracción vesical tuberculosa con excelentes resultados