Search results for "BERT"
showing 10 items of 1789 documents
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports
2017
Abstract Rationale: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert–Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids. Patient concerns: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (…
Human Bertiella studeri in Spain, Probably of African Origin
1997
A mature tapeworm and gravid proglottids of Bertiella studeri were reported from the stools of a 33-year-old pregnant Spanish woman. The patient had spent the six months preceding this discovery in Kenya. The evidence suggests a case of parasitism imported to Spain from the African continent. The patient presented no symptoms related to the parasite and the discovery in stools of a number of active, white structures led her to collect them. A morphologic and morphometric description of the material obtained is presented. Mebendazole failed to remove the parasite but niclosamide was effective.
Trait-specific tracking and determinants of body composition: a 7-year follow-up study of pubertal growth in girls
2008
Abstract Background Understanding how bone (BM), lean (LM) and fat mass (FM) develop through childhood, puberty and adolescence is vital since it holds key information regarding current and future health. Our study aimed to determine how BM, LM and FM track from prepuberty to early adulthood in girls and what factors are associated with intra- and inter-individual variation in these three tissues. Methods The study was a 7-year longitudinal cohort study. BM, LM and FM measured using dual-energy X-ray absorptiometry, self-reported dietary information, leisure time physical activity (LTPA) and other factors were assessed one to eight times in 396 girls aged 10 to 13 years (baseline), and in 2…
Bone’s Structural Diversity in Adult Females Is Established before Puberty
2009
Bone must be rigid for leverage yet light for mobility. We studied how bone modeling and remodeling fashioned differences in bone size, shape, and mass during growth to achieve these properties in adulthood.We measured the structural features of a tibial cross-section using quantitative computed tomography and markers of remodeling in 258 10- to 13-yr-old girls during 2 yr and in 108 of their mothers.Tibia total cross-sectional area and mass correlated between daughters and their mothers (r = 0.34 and 0.44, respectively, both P0.01). The location of a daughter's tibial total cross-sectional area, medullar area, and bone mass in the lower, middle, or upper part of the sample distribution was…
Bone and Muscle Development During Puberty in Girls: A Seven-Year Longitudinal Study
2009
The growth of lean mass precedes that of bone mass, suggesting that muscle plays an important role in the growth of bone. However, to date, no study has directly followed the growth of bone and muscle size through puberty and into adulthood. This study aimed to test the hypothesis that the growth of muscle size precedes that of bone size (width and length) and mass during puberty. Bone and muscle properties were measured using pQCT and DXA in 258 healthy girls at baseline (mean age, 11.2 yr) and 1-, 2-, 3-4- and 7-yr follow-up. Growth trends as a function of time relative to menarche were determined from prepuberty to early adulthood for tibial length (TL), total cross-sectional area (tCSA)…
Fumigation of Brazil nuts with allyl isothiocyanate to inhibit the growth of Aspergillus parasiticus and aflatoxin production
2017
Abstract BACKGROUND Brazil produces approximately 40 000 tons of Brazil nuts annually, which is commonly contaminated with fungi and mycotoxins. Gaseous allyl isothiocyanate (AITC) was used to inhibit the growth of Aspergillus parasiticus and its production of aflatoxins (AFs) in Brazil nuts. RESULTS Nuts were inoculated with 104 spores g−1 of A. parasiticus and placed in airtight glass jars with controlled relative humidity (RH = 95 or 85%). Samples were treated with 0, 0.5, 1.0 or 2.5 µL L−1 of gaseous AITC and analyzed after 30 days to determine the fungal population and AFs content. Samples were also submitted to sensory evaluation. AITC at 2.5 µL L−1 could completely inhibit the fungal…
Nuevos factores de riesgo cardiometabólico en niños con obesidad severa: influencia del estado puberal
2010
The aim of this prospective study was to evaluate the utility of new biochemical markers to assess cardiometabolic risk in severely obese children and adolescents. A total of 107 subjects aged 7 to 14 years, were clinically assessed and anthropometric measures and percentage of fat mass by single frequency bioimpedance analysis were recorded. Of these, 44 were non-overweight and 63 severely obese (body mass index Z-score >2.5) which were stratified by Tanner stages. To estimate the metabolic risk the following variables were considered for analysis: Waist circumference/height >0.5, fasting glucose >100 mg/dL, triglycerides >110 mg/dL, HDL-C 95th percentile for age and gender. Fasting insuli…
Albert Robida et la guerre de demain
2014
International audience
Gozos, y loores al glorioso San Alberto.
1746
El full orlat Grav. xil. enmarcat del sant, flanquejat per gerros amb flors El text del goig a tres col. separades per bandes