Measurement of the neutron electric to magnetic form factor ratio at Q2=1.58 GeV2 using the reaction 3He[over →](e[over →],e'n)pp.

A measurement of beam helicity asymmetries in the reaction 3He[over →](e[over →],e'n)pp is performed at the Mainz Microtron in quasielastic kinematics to determine the electric to magnetic form factor ratio of the neutron GEn/GMn at a four-momentum transfer Q2=1.58 GeV2. Longitudinally polarized electrons are scattered on a highly polarized 3He gas target. The scattered electrons are detected with a high-resolution magnetic spectrometer, and the ejected neutrons are detected with a dedicated neutron detector composed of scintillator bars. To reduce systematic errors, data are taken for four different target polarization orientations allowing the determination of GEn/GMn from a double ratio. We find µnGEn/GMn=0.250±0.058(stat)±0.017(syst).

Causes of low vision in children: A systematic review.

OBJECTIVE: To identify the ocular pathologies that are reported as causes of low vision in children. MATERIAL AND METHODS: The systematic search was carried out in Medline (PubMed), Embase and Lilacs. Observational studies with populations between 0-18 years of age, reporting visual acuity data between 20/60-20/400 and reporting the frequency of ocular pathologies were selected. Studies in which the diagnosis of the condition had not been verified by a professional, or which covered only cases of blindness, uncorrected refractive errors, or amblyopia, were excluded. The methodological quality of the articles was evaluated using the Joanna Briggs Institute instrument for prevalence studies. RESULTS: 27 studies conducted in Asia (13 publications), Africa (6 studies), Oceania (4 studies), Europe and South America (2 studies each) were included. The most reported causes of low vision were: cataract, with prevalence between 0.8% and 27.2%; albinism with from 1.1% to 47%; nystagmus, with prevalence between 1.3% and 22%; retinal dystrophies between 3.5% and 50%; retinopathy of prematurity (ROP) with prevalence between 1.1% and 65.8%, optic atrophy between 0.2% and 17.6%, and glaucoma from 2.4% to 18.1%. CONCLUSIONS: Cataract, albinism and nystagmus are the ocular pathologies most mentioned by studies as a cause of low vision in children, as well as retinal diseases such as ROP and optic nerve diseases such as atrophy. However, there are numerous eye conditions that can result in low vision in the pediatric population.

Interleukin-15 and other myokines in chronic alcoholics.

AIMS: Interleukin (IL)-15 is highly expressed in skeletal muscle, where it exerts anabolic effects, increasing protein content in muscle fibres and promoting muscle growth. Alcoholics frequently suffer myopathy. Therefore, we analyse the behaviour of IL-15 (and other myokines, such as IL-6, IL-8 and tumour necrosis factor α (TNF-α)) in alcoholics. METHODS: These myokines and also malondialdehyde (MDA)--a lipid peroxidation product--were determined by radioimmunoanalytic techniques in blood samples of 35 chronic alcoholics and 13 age- and sex-matched controls, and compared with body composition, nutritional status, liver function, amount of ethanol and routine biochemical variables. RESULTS: IL-15, IL-6, TNF-α, IL-8 and MDA were all higher in alcoholics than in controls; MDA and IL-6 were clearly related with liver function impairment and short-term prognosis, whereas IL-15 was higher among those who died and was related to serum bilirubin. No relation was found between IL-15 and lean mass. CONCLUSION: IL-15 levels were higher in alcoholics than in controls, especially among those who died within 18 months after admission. They are not related with muscle mass, intensity of alcoholism or nutritional status, but only with serum bilirubin. IL-6 showed inverse correlations with liver function, intensity of alcoholism, nutritional status, left arm muscle mass and short-term mortality.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

A subset of families with co-dominant or recessive inheritance has been described in several genes previously associated with dominant inheritance. Those recessive families displayed similar, more severe, or even completely different phenotypes to their dominant counterparts. We report the first patients harboring homozygous disease-related variants in three genes that were previously associated with dominant inheritance: a loss-of-function variant in the CACNA1A gene and two missense variants in the RET and SLC20A2 genes, respectively. All patients presented with a more severe clinical phenotype than the corresponding typical dominant form. We suggest that co-dominant or recessive inheritance for these three genes could explain the phenotypic differences from those documented in their cognate dominant phenotypes. Our results reinforce that geneticists should be aware of the possible different forms of inheritance in genes when WES variant interpretation is performed. We also evidence the need to refine phenotypes and inheritance patterns associated with genes in order to avoid failures during WES analysis and thus, raising the WES diagnostic capacity in the benefit of patients.

Prognostic value of nutritional status in alcoholics, assessed by double-energy X-ray absorptiometry.

OBJECTIVES: This study was performed in order to assess nutritional status of 77 alcoholic patients. METHODS: Patients underwent a total body double-energy X-ray absorptiometry (DEXA) analysis, with estimation of lean and fat mass at different parts of the body. RESULTS: Lean mass, but not fat mass, was significantly reduced among alcoholics, compared to 31 age-matched controls, especially at right arm, legs, and total body. Lean mass at both arms was significantly related to liver function parameters (albumin, prothrombin activity, bilirubin) and, inversely, with ethanol consumption. The 24 patients who died during a follow-up period of 88 months showed less lean mass at both arms, trunk, and left leg, and also less fat at the left arm, than survivors. When right and left arm lean mass were classified in quartiles, Kaplan-Meier curves showed significant differences between dead and survivors. Left arm lean mass was the parameter which was independently related to mortality when encephalopathy was not included in a stepwise Cox regression analysis, but was displaced by this last parameter when it was also introduced in the analysis. CONCLUSION: Lean mass is reduced in alcoholics, is related to liver function derangement and ethanol consumption, and is related to mortality.

Lipid profile and bone mineral density in heavy alcoholics.

BACKGROUND & AIMS: Some studies have illustrated the association between serum lipid profile and bone mineral density (BMD) or fractures. None of these studies was performed among alcoholics, despite the fact that alcoholism may affect both bone mass and lipid metabolism. We here analyse the relationship of serum lipid profile with bone mass among a population of 280 heavy alcoholics (29 women). METHODS: patients underwent a densitometric assessment of BMD and determination of a serum lipid panel. Castelli index (Total cholesterol/HDL cholesterol) and the LDL/HDL cholesterol index were calculated. RESULTS: There was a direct correlation between both total cholesterol and LDL-cholesterol and femoral neck (r = 0.17 and r = 0.20, respectively) and lumbar spine (r = 0.16 and r = 0.20) T score, total BMD (r = 0.14 and r = 0.18) or pelvis BMD (r = 0.16 and r = 0.23; p < 0.025 in all cases). HDL-cholesterol showed no relationship with BMD. Serum triglycerides were also directly related to T score at the lumbar spine (ρ = 0.13; p = 0.032) and pelvis BMD (ρ = 0.13; p = 0.037). Pelvis BMD was significantly related to Castelli index (ρ = 0.15) and LDL/HDL index (ρ = 0.18; p < 0.015 in both cases). Multivariate analysis showed that the association between the serum lipid panel and BMD was independent of liver function and body mass index. CONCLUSIONS: Therefore, BMD was directly related to total cholesterol and LDL cholesterol in heavy alcoholism. This counter intuitive observation adds to others derived from several similar studies conducted in different population groups but not in alcoholics as of yet. The mechanisms that explain the association between serum lipids and bone metabolism need further investigation.

Adipokines, cytokines and body fat stores in hepatitis C virus liver steatosis.

AIM: To identify patients with or without liver steatosis and its severity in treatment-naïve patients affected by hepatitis C virus (HCV) infection. METHODS: We included 56 HCV infected patients, and assessed the amount of liver fat by histomorphometry, and its relationships with fat and lean mass at different parts of the body (by densitometry), hormones [insulin, homeostatic model assessment (HOMA)], adipokines (resistin, adiponectin, leptin), and cytokines (tumor necrosis factor α, interleukin-6). RESULTS: Although the intensity of liver steatosis is related to trunk fat mass and HOMA, 33% of patients showed no liver steatosis, and this finding was not related to body mass index or genotype. Besides trunk fat mass, no other factor was related to the presence or not of liver steatosis, or to the intensity of it, by multivariate analysis. Lean mass was not related to liver steatosis. Adiponectin levels were lower among patients. No differences were observed in leptin and resistin. CONCLUSION: Steatosis in HCV infection is common (67.2%), and closely related to trunk fat, and insulin resistance, but not with leg fat mass or adipokines.

Nutritional assessment in alcoholic patients. Its relationship with alcoholic intake, feeding habits, organic complications and social problems.

To establish their ability to predict malnutrition, irregular feeding, alcoholic intake, derangement of social and familial links and organic complications (liver cirrhosis) were assessed in 181 hospitalized male alcoholic. BMI was under 18.5 kg/m(2) in 8.9%, between 18.5-20 kg/m(2) in 8.9%, 20-25 kg/m(2) in 42%, 25-30 kg/m(2) in 32.2% and over 30 kg/m(2) in 8.2% of patients. Malnutrition was related to the intensity of ethanol intake, development of social or familial problems, irregularity of feeding habits and cirrhosis with ascites. Irregularity of feeding habits was also related to heavy drinking and to social or familial derangement. By logistic regression analysis, the only variables which independently predict malnutrition were irregular feeding habits and liver cirrhosis with ascites. In a second step, irregular feeding was dependent on social or familial troubles and daily intake of ethanol. So, malnutrition related to alcoholism seems multifactorial in its pathogenesis.

In vivo antifungal activity of the essential oil of Bupleurum gibraltarium against Plasmopara halstedii in sunflower.

The antifungal activity of the essential oil of the aerial parts of Bupleurum gibraltarium was evaluated against Plasmopara halstedii. Fungus spores were inoculated in sunflower seedlings, previously treated with several essential oil solutions, and the sporulation percentage was measured after an 11-day treatment. The oil at a concentration of 5.0 mL/L clearly inhibited the fungus sporulation. The contact between fungus sporangia and essential oil was minimized, so it seems that the oil pretreatment could activate the defense response of the sunflower seedlings against the pathogen invasion. The main compounds in the oil were sabinene (31.1%), alpha-pinene (15.6%), and 2,3,4-trimethylbenzaldehyde (10.9%), among a total of 65 components identified.

Osteopenia assessed by body composition analysis is related to malnutrition in alcoholic patients.

Osteopenia is frequent among alcoholics. Its pathogenesis seems to be multifactorial, including ethanol intake, hormonal changes, liver cirrhosis, and malnutrition. Our objective is to determine the relative role of malnutrition on bone loss. One hundred and eighty-one male alcoholic patients, drinkers of more than 80 g ethanol/day, were included, recording data on the intensity of alcoholism, liver cirrhosis, nutritional assessment based on feeding habits, body mass index (BMI), midarm anthropometrics, subjective nutritional assessment, lean and fat mass by dual energy X-ray absorptiometry (DEXA), serum proteins and insulin growth factor Type I (IGF-I), calcitropic hormones, parathyroid hormone (PTH), osteocalcin 25OHD3, and bone mass assessed by DEXA, which was also performed in 43 healthy controls. Alcoholics showed decreased serum osteocalcin, PTH, 25OHD3, IGF-I, and bone mass. Alcoholics were frequently malnourished with decreased BMI, lean, and fat mass. The loss of bone mass was not related to the alteration of calcitropic hormones, to the intensity of alcoholism, or to the existence of liver cirrhosis, but to malnutrition. For a similar BMI, bone loss was more intense in alcoholics than in controls, especially in those with irregular feeding habits. Although cross-sectional ones, our data suggest that alcoholic osteopenia may be interpreted as a form of nutritional osteoporosis, notwithstanding the influence of other factors.

Transient congenital hypoparathyroidism and 22q11 deletion.

CATCH-22 syndrome represents a spectrum of abnormalities associated with microdeletions of chromosome 22q11. We report a patient with transient congenital hypoparathyroidism, with severe neonatal hypocalcemia and spontaneous resolution in infancy, tetralogy of Fallot and thymic hypoplasia. Genetic confirmation of chromosome 22q11 deletion was made. Newborns with congenital hypoparathyroidism need genetic analysis and examination for anomalies associated with CATCH-22 syndrome.

[Pneumonia in elder institutionalized patients:derivation and/or prognostic classification criterion]. / Neumoní en el anciano institucionalizado: criterios de derivación y/o clasificación pronóstica.

OBJECTIVE: To know the clinical features of nursing home residents with pneumonia comparing with patients with Community-acquired pneumonia and identify the main prognostic index of mortality. MATERIAL AND METHODS: Longitudinal prospective study including all the elderly patients hospitalized in Cantoblanco Hospital of Madrid during the year 2001 for pneumonia and classified according to the Fine prognosis index and the SEPAR criteria. RESULTS: Of the 78 patients with pneumonia, 27 came from Residence, with an average of age of 86.85(+/- 6.43) years old, opposite to 83.11 (+/- 5.87) years in patients with Community acquired pneumonia ( p<0.05). Of all of them, 33,3% belonged to class IV and 66.7% to class V of Fine. Of all the variables studied, only the age (p= 0.03) and the hypoxemia (p= 0.03) were statistical significant. CONCLUSIONS: Nursing home residents with pneumonia are older and have more prevalence of morbi-mortality than those with Community acquired pneumonia. In our study, the age and the hypoxemia were the two independent prognosis factors associate to more mortality.

Closing the sensorimotor loop: haptic feedback facilitates decoding of motor imagery.

The combination of brain-computer interfaces (BCIs) with robot-assisted physical therapy constitutes a promising approach to neurorehabilitation of patients with severe hemiparetic syndromes caused by cerebrovascular brain damage (e.g. stroke) and other neurological conditions. In such a scenario, a key aspect is how to reestablish the disrupted sensorimotor feedback loop. However, to date it is an open question how artificially closing the sensorimotor feedback loop influences the decoding performance of a BCI. In this paper, we answer this issue by studying six healthy subjects and two stroke patients. We present empirical evidence that haptic feedback, provided by a seven degrees of freedom robotic arm, facilitates online decoding of arm movement intention. The results support the feasibility of future rehabilitative treatments based on the combination of robot-assisted physical therapy with BCIs.

Towards brain-robot interfaces in stroke rehabilitation.

A neurorehabilitation approach that combines robot-assisted active physical therapy and Brain-Computer Interfaces (BCIs) may provide an additional mileage with respect to traditional rehabilitation methods for patients with severe motor impairment due to cerebrovascular brain damage (e.g., stroke) and other neurological conditions. In this paper, we describe the design and modes of operation of a robot-based rehabilitation framework that enables artificial support of the sensorimotor feedback loop. The aim is to increase cortical plasticity by means of Hebbian-type learning rules. A BCI-based shared-control strategy is used to drive a Barret WAM 7-degree-of-freedom arm that guides a subject's arm. Experimental validation of our setup is carried out both with healthy subjects and stroke patients. We review the empirical results which we have obtained to date, and argue that they support the feasibility of future rehabilitative treatments employing this novel approach.

Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex.

OBJECTIVE: To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. METHODS: We describe the case of a monochorionic (MC) diamniotic (DA) pregnancy with phenotypically discordant twins (nuchal cystic hygroma and non-immune hydrops in twin A and no anomalies in twin B). QF-PCR was performed for rapid prenatal diagnosis in uncultured amniocytes and subsequently in cultured cells. Polymorphic markers for chromosomes X, Y, 13, 18 and 21 were used for determination of zygosity as well as sex chromosome aneuploidy. RESULTS: Twin A showed a Turner Syndrome (TS) mosaicism pattern by QF-PCR in uncultured amniocytes. The monozygotic origin of the pregnancy was determined. Interphase fluorescence in situ hybridization (I-FISH) in this sample showed a mosaicism X0/XY (83/17%). Cytogenetic analysis revealed a 45,X0 karyotype in twin A and a 46,XY karyotype in twin B. CONCLUSIONS: QF-PCR is a reliable tool for the determination of the zygosity independently of the chorionicity and the fetal sex in case of twin pregnancy. Testing both direct and cultured cells can provide useful results for genetic counselling in chromosomal mosaicisms.

[Genetics of congenital cardiopathies]. / Genética de las cardiopatías congénitas.

Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

Double-energy X-ray absorptiometry in the diagnosis of osteopenia in ancient skeletal remains.

Bone mineral density (BMD) assessed by double-energy X-ray absorptiometry (DEXA) accurately estimates the bone mass in living individuals, and is thus the method usually employed in the diagnosis and follow-up of osteopenia. It is preferred, in clinical settings, to the more invasive and destructive histomorphometrical assessment of trabecular bone mass in undecalcified bone samples. This study was performed in order to examine the value of DEXA-assessed BMD at the proximal end of the right tibia, either alone or in combination with the cortico-medullary index at the midshaft point of the right tibia (CMI), in the diagnosis of osteopenia in a prehistoric sample composed of 95 pre-Hispanic individuals from Gran Canaria. Age at death could be estimated in 34 cases. Diagnosis of osteopenia was performed by histomorphometrical assessment of trabecular bone mass (TBM) in an undecalcified bone section of a small portion of the proximal epiphysis of the right tibia. A high prevalence of osteopenia was found among the population of Gran Canaria. Both TBM and BMD were significantly lower in the older individuals than in younger ones, and BMD was also significantly lower in female individuals. BMD was moderately correlated with TBM (r = +0.51); the correlation was higher if CMI was included (multiple r = +0.615). BMD values lower than 0.7 g/cm2 showed a high specificity (>93%) at excluding normal TBM values. These methods were prospectively applied in a further sample of 21 right tibiae from Gran Canaria, Tenerife, and El Hierro. The results were similar to those obtained in the larger sample. Thus, DEXA-assessed BMD combined with CMI (noninvasive procedures) may be useful in detecting osteopenia in ancient populations.

Karyotype and prognosis in adult Spanish acute lymphoblastic leukemia.

The aim of the study was to define the frequency and prognostic significance of acquired chromosomal abnormalities in our adult population and to ascertain whether karyotype represents a significant prognostic factor in adult patients with acute lymphoblastic leukemia (ALL) independently of the new intensive chemotherapy programs and initial clinical characteristics.