Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study.

BACKGROUND: Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups. METHOD: This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) standing, and (E) walking, running, and jumping. Differences between groups were tested using the Mann-Whitney test, and the relationship between the variables was examined using Spearman's correlation tests, with a significance level set at 5%. RESULTS: Children with DS showed greater difficulties with sensory processing than TD children in Seeker (P < 0.001), Avoider (P < 0.001), Sensitivity (P < 0.001), Registration (P < 0.001), Auditory (P < 0.001), Touch (P = 0.001), Movements (P = 0.001), Oral (P = 0.028), Conduct (P = 0.005), Socioemotional (P < 0.001), and Attentional (P < 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, standing (P < 0.001) and walking, running, and jumping (P < 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in walking, running, and jumping for the DS group. CONCLUSION: Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. Therefore, a comprehensive assessment of all these aspects should be performed in children and adolescents with DS, along with the provision of relevant interventions addressing specific needs.

[A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital]. / Estudio de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel.

AIM: To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital. PATIENTS AND METHODS: We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months. RESULTS: Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables. CONCLUSIONS: The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases.

TITLE: Estudio de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel.Objetivo. Conocer las caracteristicas de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel. Pacientes y metodos. Estudio descriptivo retrospectivo en el que se revisan los datos epidemiologicos, los motivos de consulta, los diagnosticos y los estudios complementarios de los pacientes atendidos por la unidad de enfermedades metabolicas durante un periodo de 6 años y 11 meses. Resultados. Se valoraron un total de 1.012 pacientes. Hay un predominio de varones (52%) y de pacientes menores de 1 año (42,09%). El 71,44% son menores de 6 años. Los pacientes provienen en un 50,3% del ambito hospitalario (planta, consultas externas, neonatologia, urgencias, neuropediatria y cuidados intensivos), seguido del programa de cribado neonatal (20,36%) y de atencion primaria (14,82%). Conclusiones. El estudio de la demanda asistencial de las enfermedades metabolico-hereditarias es util para detectar necesidades en su campo y tratar de adecuar la asistencia a estas. Los avances medicos, cientificos y sociales hacen necesaria la existencia del experto en metabolismo en unidades clinicas de referencia, integrado en equipos multidisciplinares con otros especialistas, para una adecuada sospecha, diagnostico, manejo y seguimiento. Debe estar en continua actualizacion y garantizar la adecuada formacion de nuevos expertos en metabolismo, la mejor via para una optima atencion de los pacientes afectados de enfermedades metabolicas, habitualmente enfermedades raras.

Genome-wide identification of copy number variations in Holstein cattle from Baja California, Mexico, using high-density SNP genotyping arrays.

Copy number variations (CNVs) are an important source of genomic structural variation, and can be used as markers to investigate phenotypic and economic traits. CNVs also have functional effects on gene expression and can contribute to disease susceptibility in mammals. Currently, single nucleotide polymorphism genotyping arrays (SNP chips) are the technology of choice for identifying CNV variations. Microarray technologies have recently been used to study the bovine genome. The objective of the present study was to develop CNVs in Holstein cows from the Northwest of Mexico using the Affymetrix Axiom Genome-Wide BOS 1 Array, which assays 648,315 SNPs and provides a wide coverage for genome-wide studies. We applied the two most widely used algorithms for the discovery of CNVs (PennCNV and QuantiSNP) and found 56 CNV regions (CNVRs) representing 0.33% of the bovine genome (8.46 Mb). These CNVRs ranged from 1.5 to 970.8 kb with an average length of 151 kb. They involved 103 genes and showed a 28% overlap with CNVRs already reported. Of the 56 CNVRs found, 20 were novel. In this study we present the first genomic analysis of CNVs in Mexican cattle using high-density SNP data. Our results provide a new reference basis for future genomic variation and association studies between CNVs and phenotypes, especially in Mexican cattle.

GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results.

The GHEP-ISFG Working Group performed a collaborative exercise to monitor the current practice of mitochondrial (mt)DNA reporting. The participating laboratories were invited to evaluate a hypothetical case example and assess the statistical significance of a match between the haplotypes of a case (hair) sample and a suspect. A total of 31 forensic laboratories participated of which all but one used the EMPOP database. Nevertheless, we observed a tenfold range of reported LR values (32-333.4), which was mainly due to the selection of different reference datasets in EMPOP but also due to different applied formulae. The results suggest the need for more standardization as well as additional research to harmonize the reporting of mtDNA evidence.

New indices for quantification of the power spectrum of heart rate variability time series without the need of any frequency band definition.

This paper presents a new family of indices for the frequency domain analysis of heart rate variability time series that do not need any frequency band definition. After proper detrending of the time series, a cumulated power spectrum is obtained and frequencies that contain a certain percentage of the power below them are identified, so median frequency, bandwidth and a measure of the power spectrum asymmetry are proposed to complement or improve the classical spectral indices as the ratio of the powers of LF and HF bands (LF/HF). In normal conditions the median frequency provides similar information as the classical indices, while the bandwidth and asymmetry can be complementary measures of the physiological state of the tested subject. The proposed indices seem to be a good choice for tracking changes in the power spectrum in exercise stress, and they can guide in the determination of frequency band limits in other animal species.

Monitoring hand flexor fatigue in a 24-h motorcycle endurance race.

Motorcycle riders must endure high levels of muscle tension for long periods of time, especially in their arms and forearms, when steering and using handlebar controls. Because the right hand operates the gas handle and front brakes, the present research focuses on fatigue in the right hand flexors. Ten adult riders, aged 32.5±5.5years, volunteered to participate in this study. During the 24h race each rider, on completion of a relay stage, visited the assessment box to do the following handgrip test sequence: (1) 10s of EMG recording at rest, (2) one 3-s maximal voluntary contraction (MVC), (3) 1min rest interval and (4) 50% MVC maintained during 10s. EMG amplitude (MP: µV) and median and mean frequency (MF and MPF: Hz) over the superficial finger flexors were recorded during the whole handgrip test sequence with adhesive surface electrodes. MVC values were maintained during the first two relays (50-60min duration in total) and dropped gradually thereafter (p<0.01). During the monitoring of the 50% MVC, mean amplitude increased (p=0.024) while median and mean frequency tended to decrease. These results suggest fatigue is produced in motorcycle riders in a 24h race. However, the expected reduction of EMG frequency was not confirmed given to a potentially large variability.

Deleción intersticial del brazo largo del cromosoma 4(4q12q21.1): comunicación de un nuevo caso / Intersticial deletion of the long arm of chromosome 4(4q12-q21.1): report oa a new case

Se comunica un nuevo caso de deleción proximal del brazo largo del cromosoma 4 de novo, en un niño de 3 años de edad con rasgos fenotípicos compatibles con un síndrome de Waardemburg tipo II. Presentaba mechón de pelo blanco frontal, hipoacusia neurosensorial bilateral, desplazamiento lateral de cantos internos, heterocromía de iris, fisura velopalatina, lesiones hipocrómicas en tronco, hipotonía axial, extremidades cortas, deformidades de cuerpos vertebrales, retraso mental y ponderoestatural, reflujo gastroesofágico, síndrome de malabsorción, panhipopituitarismo, comunicación interauricular tipo ostium secundum, hipermetropía (11 dioptrías) y dificultad para la deglución. El cariotipo de alta resolución realizado en células de sangre periférica y piel hipo/hiperpigmentada puso de manifiesto una deleción intersticial en el brazo largo del cromosoma 4 (4q12-q21.1). El estudio mutacional del gen MITF (Waardenburg II) fue normal. Se revisan los casos similares descritos anteriormente en la bibliografía y se resalta que la asociación retraso mental y ponderoestatural en niños con rasgos fenotípicos que recuerdan al síndrome de Waardenburg o al piebaldismo aislado deben alertar sobre posibles deleciones en la estructura del brazo largo del cromosoma 4(AU)

We report a new case of a de novo interstitial deletion of the long arm of chromosome 4, in a three-year-old boy, with phenotypic features compatible with Waardenburg syndrome type II. Clinical examination disclosed the following abnormalities: white forelock, sensorineural hearing loss, hypertelorism, irisheterochromia, cleft palate, hypotonia, depigmented areas in trunk, short limbs and deformities in vertebral bodies, mental retardation and developmental delay. Further studies showed gastroesophageal reflux, malabsorption syndrome, panhypopituitarism, atrial septal defect, hypermetropia (11 diopters) and swallowing difficulties. Chromosome analysis of peripheral blood cells and hypopigmented and hyperpigmented skin cells showed an interstitial deletion of the long arm of chromosome 4 (4q12-q21.1). The results of the mutational study of the MITF gene (Waardenburg II) were normal. Genetic studies of the parentsal so produced normal results. We have reviewed similar cases previously published in the literature, and we stress the fact that the association of growth failure and mental retardation in children with a phenotype resembling piebald trait or Waardenburg syndrome should alert us to the possibility of deletions in the structure of the long arm of chromosome 4(AU)

The application of a PCR technique for the detection of immunoglobulin heavy chain gene rearrangements in fresh or paraffin-embedded skin tissue.

Although detection of a clonal sequence of the heavy chain gene of immunoglobulin by the polymerase chain reaction (PCR) is frequently used to assess lymphoid infiltrates in skin biopsy specimens, there are no data on the sensitivity and specificity of this test in detecting clonal B cell populations. Having refined a PCR technique for the detection of immunoglobulin heavy chain (IgH) gene rearrangement in both fresh and formalin-fixed, paraffin-embedded skin samples, we undertook to define the role of this assay in the diagnostic setting. Thirty-one cases of cutaneous B cell lymphoma (CBCL), 19 cases of B cell pseudolymphoma (lymphocytoma cutis), 34 cases of benign lymphocytic infiltrates of the skin and one case of cutaneous T cell lymphoma (CTCL) were studied using the polymerase chain reaction assay. All biopsies were formalin-fixed, paraffin-embedded skin sections apart from 13 of the 31 CBCL specimens which were fresh skin specimens. DNA from the framework region 3 (FR3) sequence of the IgH genes was amplified to ascertain the presence of a clonal IgH gene rearrangement. The findings were correlated with histological and immunophenotyping results on all samples. The assay performed with 73% sensitivity and 100% specificity, comparable to results obtained examining fresh lymphoid tissue specimens from patients with B cell tumours. The results indicate that this technique is a useful tool in the work up of suspected CBCL and in differentiating between CBCL and mixed lymphocytic infiltrates, a clearly important distinction with regards to prognosis and treatment.

PCB congeners transferred by human milk, with an estimate of their daily intake.

The degree of exposure by nursing mothers to individual polychronated biphenyl (PCB) congeners was studied and an estimate made of the daily intake by their infants. Epidemiological data from 100 nursing mothers were collected; 11 individual PCB congeners were determined in samples of the mothers' milk and the toxicity equivalent (TEQ) calculated. The mothers' data and the congener levels were statistically correlated. In over 80% of the samples, PCB congeners nos 180, 28, 138 and 170 were identified, and in over 70%, PCB congeners nos 188, 52, 187 and 153. PCB congeners nos 183, 101 and 118 were identified in percentages of between 39 and 15% of the samples. The highest levels detected were those in PCB no. 28 (1.626 ppb), and the lowest concentrations corresponded to PCB no. 183 (0.109 ppb). The toxicity equivalent (TEQ) was calculated from the toxic equivalent factor (TEF) of the congeners studied. There were no statistical differences between the geographical place of residence, age, occupation, and the congeners studied. There was a significant differentiation with respect to the birthplace, the location of industrial estates and the irrigation facilities in the area of residence, to smoking, the consumption of a varied diet, meat, fish or industrially processed foods, the physical constitution of the mothers, number of children and lactation periods, and PCB congener levels. The total PCB daily intake estimate was under the acceptable daily intake (ADI) limits of tolerance (WHO, 1988), and it was not possible to come to any conclusions for the estimated daily intake (EDI) of the 11 congeners studied since these have not yet been established. It was thus proposed to use the EDIs obtained in order to establish the ADIs of the individual PCB congeners.

Measurement of Candida-specific blastogenesis: comparison of carboxyfluorescein succinimidyl ester labelling of T cells, thymidine incorporation, and CD69 expression.

Measurement of the T cell blastogenic response to Candida may be useful in the evaluation of patients with suspected immunodeficiency. The classic blastogenesis assay is based on uptake of [3H]thymidine by peripheral blood lymphocytes stimulated with Candida antigens for 5 days. An alternative approach involves staining peripheral blood lymphocytes with the intracellular fluorescent dye carboxyfluorescein succinimidyl ester (CFSE) and measuring mitotic activity by the successive twofold reductions in fluorescent intensity using flow cytometry (FCM). The two approaches were compared in 16 subjects who demonstrated various proliferative responses to Candida. FCM-derived indices all involved initial gating on CD3+ T cells and included 1) blastic transformation as measured by changes in light scatter, 2) cell division, measured by CFSE fluorescence, and 3) CD69 expression. A good correlation was found between [3H]thymidine uptake and CFSE-derived indices, irrespective of the analysis algorithm used to interpret CFSE division profiles. Furthermore, significant T cell proliferation occurred only in subjects who had had one or more symptomatic episodes of vaginal candidiasis whereas controls with no such history, and patients with chronic vaginal infection, showed minimal proliferation. The increase in proportion of CD69+ T cells in culture also correlated with the blastogenic response to Candida, but less well than mitotic indices. CFSE-derived indices of T cell blastogenesis to Candida are equivalent to [3H]thymidine-based assays and may allow useful laboratory distinction between subjects who have been exposed to and recovered from vaginal Candida infection, who have a strong proliferative response, from those with no exposure or chronic infection who demonstrate a poor response.

The hexacyanomanganate(IV)-hydrogen peroxide reaction. Kinetic determination of vanadium.

The reaction between hexacyanomanganate(IV) and hydrogen peroxide in acidic medium is strongly catalysed by vanadium. The stoichiometry has been proved to be Delta[Mn(IV)]/Delta[H(2)O(2)]=1. S-shaped absorbance-time curves are obtained for a wide range of conditions, which seems to be due to the transient formation of hydroperoxyl radicals, HO(2).; therefore, the reaction is autoinduced. The reaction kinetics is first order on the hexacyanomanganate(IV) concentration. Complex dependence of the initial rate on the H(2)O(2) as well as H(+) concentrations are observed both for the uncatalysed and for the catalysed reactions, but the rate laws are given and reaction mechanisms are proposed. The catalytic effect of vanadium has been used to determine traces of vanadium (the (IV) and (V) oxidation states are determined together). By applying the initial rate method a detection limit of 0.9 ng ml(-1) (18 nM), and a linear range up to 50 ng ml(-1) were found. The relative standard deviations for the 4 and 25.5 ng ml(-1) levels were 5.2 and 2.5% respectively. Positive kinetic interferences from Cr(VI), Hg(I) and Ag(I) have been observed; other interferences are less severe and Cr(IIl), Fe(II) and Fe(III), among many others, do not interfere. The Mn(IV) solution must be prepared daily and its conservation needs some care (0 degrees C) but the proposed method has been applied to the determination of vanadium in a phosphate rock (reference material, BCR No. 32) without previous separations. Recovery experiments have also been performed; excellent results were obtained in both cases.

Programa de control de calidad de Discos antibióticos / Quality of control program of antibiotics disks

La prueba de Antibiograma se usa rutinariamente para medir la susceptibilidad a los antibióticos de las bacterias aisladas en muestras clínicas. Asegurar la calidad de los discos de antibióticos es indispensable para que se produzcan resultados confiables y oportunos en el Antibiograma. Para ello se estableció un programa de control de calidad de los discos antibióticos. Se realizaron 336 mediciones durante 6 meses, con sólo 5(1,2 por ciento) resultados fuera del rango establecido y 27(8,0 por ciento) resultados en los límites. De los 5 resultados obtenidos fuera de los rangos, 4 de ellos fueron valores por debajo del límite inferior, todos ocurrieron el mismo día, lo que sugiere algún error en la técnica. De los 14 antibióticos probados, 9 de ellos tuvieron tendencia a la baja y 5 con tendencia a la alta. Debido a resultados en los límites inferiores o por debajo se descartaron 6 viales. El programa de Control de Calidad de los discos de Antibióticos ha sido un éxito, todo el personal ha tomado conciencia de que el control de calidad en un laboratorio es una obligación en beneficio del paciente

Organochlorine pesticides in pasteurized milk and associated health risks.

The presence of organochlorine pesticides (alpha-HCH, beta-HCH, lindane, aldrin, dieldrin, heptachlor, heptachlor epoxide, chlordane and the isomers and metabolites of DDT) in Spanish pasteurized milk were investigated. 95% of the samples contained one of the isomers of the HCH group and 12.9% of them exceeded the maximum residue limit permitted by the European Union; six samples went over that limit for heptachlor epoxide and 74.63% of the samples contained chlordane at higher concentrations than those permitted by the legislation. None of the samples exceeded the limit for the DDT group. The mean concentrations detected for each pesticide were as follows (mg/kg): alpha-HCH = 0.015; beta-HCH = 0.039; lindane = 0.007; delta-HCH = 0.07; aldrin = 0.002; dieldrin = 0.028; chlordane = 0.101; heptachlor = 0.011; heptachlor epoxide = 0.021; o.p'-DDD = 0.016; p.p'-DDD = 0.009; p.p'-DDE = 0.045 (DDT + metabolites = 0.067).

Aflatoxin-producing strains of Aspergillus flavus in the mould flora of the different greenhouse substrates for the cultivation of cucumber (Cucumis sativus, L.).

Fungal contamination in a greenhouse for production of cucumbers (Cucumis sativus, L.) was studied. 158 samples of water, sand, air, leaves and fruits were analyzed. 25 different genera were isolated, the most frequent ones being Pullularia, Aspergillus, Paecilomyces, Alternaria, Fusarium, Rhizopus and Penicillium. Pullularia, Aspergillus, Paecilomyces and Penicillium were present in all types of samples studied. Twenty-one strains of A. flavus were identified and only eight of those produced aflatoxins "in vitro".

The usefulness of a rapid PCR methodology to detect rearranged Ig heavy chain genes in lymphoproliferative disease in a diagnostic setting.

Polymerase chain reaction (PCR) was used to amplify the DNA fragments of the framework 3 region (FR3) of the immunoglobulin heavy (IgH) chain genes, from the tissue of 66 patients with B-lymphoproliferative diseases and 74 patients with other malignant diseases, reactive or normal tissue. The assay performed with 77% sensitivity, 100% specificity and 89% efficacy. In addition, the PCR assay cost less than 25% of the cost performing Southern blot analysis of tumor DNA, which has been the test performed to date, and had a turn around time of 24 hrs rather than the 7-14 days required to obtain a result from Southern blot analysis. These results suggest that PCR analysis of B-cell lymphoproliferative disease is superior to Southern blot analysis, in the setting of a diagnostic laboratory.

Sporotrichosis in the Orinoco river basin of Venezuela and Colombia.

Six cases of sporotrichosis from the Orinoco river basin of Venezuela and Colombia are described; two are of the localized cutaneous type and four are lymphocutaneous. Diagnosis was based on the patient's clinical history and mycological culture. Epidemiology and distinctive cultural habits of the patients are discussed in connection with disease etiology.