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Biomedical subjects

J Rosell

Publications and source records attributed to J Rosell.

At least 19 recordsLinked to original sources
PubMed2005

An Early Pleistocene hominin mandible from Atapuerca-TD6, Spain.

We present a mandible recovered in 2003 from the Aurora Stratum of the TD6 level of the Gran Dolina site (Sierra de Atapuerca, northern Spain). The specimen, catalogued as ATD6-96, adds to the hominin sample recovered from this site in 1994-1996, and assigned to Homo antecessor. ATD6-96 is the left half of a gracile mandible belonging to a probably female adult individual with premolars and molars in place. This mandible shows a primitive structural pattern shared with all African and Asian Homo species. However, it is small and exhibits a remarkable gracility, a trait shared only with the Early and Middle Pleistocene Chinese hominins. Furthermore, none of the mandibular features considered apomorphic in the European Middle and Early Upper Pleistocene hominin lineage are present in ATD6-96. This evidence reinforces the taxonomic identity of H. antecessor and is consistent with the hypothesis of a close relationship between this species and Homo sapiens.

Adult↗
PubMed2005

Short human occupations in the Middle Palaeolithic level I of the Abric Romani rock-shelter (Capellades, Barcelona, Spain).

This paper presents a multidisciplinary study on the size of the occupied surfaces, provisioning strategies and behaviour planning at the Romani rock-shelter, using the Middle Palaeolithic record of the level i. This level is dated around 46.000 BP through U/Th ages. A behavioural interpretation is proposed, which emphasises the activities and the systemic value of the archaeological artefacts and structures. Occupation patterns are identified on the basis of the accumulations formed by human activities. These archaeological accumulations, consisting of artefacts and hearths, are easily defined visually as spatial units. The relationships between these accumulations, established by means of refitted remains, indicate that differences can be established between: 1) small and medium-sized occupation surfaces; 2) restricted and diversified provisioning strategies. This variability suggests that different modes of occupation are represented in the same archaeological level. The human activities reveal the generalization of fire technology. In almost all sizes of the occupation surfaces, the exploitation of vegetal resources near the Abric Romani marks the threshold of the restricted provisioning strategy. Limited use and fragmented knapping activities are recorded in the lithic assemblage. Faunal remains show differential transport. The exploitation of lithic, faunal and vegetal resources characterizes the diversified provisioning strategy. The small occupation surfaces and restricted provisioning strategies suggest short settlements in the Abric Romani. This shorter occupation model complements the longer diversified provisioning strategy recorded in both small and medium-sized occupied surfaces. The selection of precise elements for transport and the possible deferred consumption in the diversified provision strategy suggest an individual supply. In this respect, Neanderthal occupations in the Romani rock-shelter show a direct relation to: 1) hunting strategic resources; 2) high, linear mobility.

Animals↗
PubMed2004

Measurement of liver iron overload by magnetic induction using a planar gradiometer: preliminary human results.

The measurement of hepatic iron overload is of particular interest in cases of hereditary hemochromatosis or in patients subject to periodic blood transfusion. The measurement of plasma ferritin provides an indirect estimate but the usefulness of this method is limited by many common clinical conditions (inflammation, infection, etc). Liver biopsy provides the most quantitative direct measurement of iron content in the liver but the risk of the procedure limits its acceptability. This work studies the feasibility of a magnetic induction (MI) low-cost system to measure liver iron overload. The excitation magnetic field (B0, frequency: 28 kHz) was produced by a coil, the perturbation produced by the object (deltaB) was detected using a planar gradiometer. We measured ten patients and seven volunteers in supine and prone positions. Each subject was moved in a plane parallel to the gradiometer several times to estimate measurement repeatability. The real and imaginary parts of deltaB/B0 were measured. Plastic tanks filled with water, saline and ferric solutions were measured for calibration purposes. We used a finite element model to evaluate the experimental results. To estimate the iron content we used the ratio between the maximum values for real and imaginary parts of deltaB/B0 and the area formed by the Nyquist plot divided by the maximum imaginary part. Measurements in humans showed that the contribution of the permittivity is stronger than the contribution of the permeability produced by iron stores in the liver. Defined iron estimators show a limited correlation with expected iron content in patients (R < or = 0.56). A more precise control of geometry and position of the subjects and measurements at multiple frequencies would improve the method.

Computer Simulation↗
PubMed2004

Bioelectrical impedance vector analysis in haemodialysis patients: relation between oedema and mortality.

In this work, bioelectrical impedance vector analysis (BIVA) method is used in a sample of haemodialysis patients in stable (without oedema) and critical (hyperhydrated and malnutrition) states, in order to establish the relation between hyperhydration (oedema) and mortality. The measurements obtained were single frequency (50 kHz), tetrapolar (hand-foot) complex impedance measurements (vector components are: resistance R and reactance Xc). The impedance components were standardized by the height H of the subjects, (R/H and Xc/H) to obtain de impedance vector Z/H, that is represented in the RXc plot (abscise R/H, ordinate Xc/H). Measurements were performed on a sample of 74 patients (30 men and 44 women, 18-70 year, body mass index (BMI), 19-30 kg m(-2)) at the Saturnino Lora University Hospital in Santiago de Cuba. The 46 stable patients comprised 28 men and 18 women; the 28 critical patients 16 men and 12 women. The reference population consisted of 1196 healthy adult subjects living in Santiago de Cuba (689 men and 507 women, 18-70 year, BMI 19-30 kg m(-2)). We used the RXc plot with the BIVA method to characterize the reference population using the 50%, 75% and 95% tolerance ellipses. Student's t-test and Hotelling's T2-test were used to analyse the separation of groups obtained by means of clinical diagnosis and those obtained by BIVA. We obtained a significant difference (P < 0.05) in R/H, Xc/H and phase angle (PA) in men as in women between the location of Z/H vectors in the RXc graph and the separation made by the doctors between stable and critical patients. Critical (hyperhydrated) patients were located below the inferior pole of the 75% tolerance ellipse, whereas stable patients were within the tolerance ellipses. Some cases classified as stable by the clinic were classified as hyperhydrated by BIVA with 100% sensitivity and 48% specificity. In conclusion, the BIVA method could be used to classify patients by hydration state and to predict survival. Advantages of the method are its simplicity, objectivity and that it does not require the definition of patient dry weight.

Adolescent↗
PubMed2003

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

Fragile X syndrome is the most common form of inherited mental retardation. It is caused by the increase in length of a stretch of CGG triplet repeats within the FMR1 gene. A full mutation (> 200 repeats) leads to methylation of the CpG island and silencing of the FMR1 gene. We present here two sisters that are compound heterozygotes for a full mutation and a 53 repeat intermediate allele, one of them showing mental retardation and clinical features of an affected male (speech delay, hyperactivity, large ears, prominent jaw, gaze aversion), while the other is borderline normal (mild delay). Southern blot and FMRP expression analysis showed that the sister with mental retardation had the normal FMR1 gene totally methylated and no detectable protein, while her sister had 70% of her cells with the normal FMR1 gene unmethylated and normal FMRP levels. We found that the observed phenotypic differences between both sisters who are cytogenetically normal, are caused by extreme skewed X-chromosome inactivation. Analysis of the extended family showed that most of the other female family members that carry a pre-mutation or a full mutation showed some degree of skewing in their X-chromosome inactivation. The presence of several family members with skewed X inactivation and the direction and degree of skewing is inconsistent with a mere selection during development, and suggests a genetic origin for this phenomenon.

Adolescent↗
PubMed2001

Sensitivity maps and system requirements for magnetic induction tomography using a planar gradiometer.

We evaluated analytically and experimentally the performance of a planar gradiometer as a sensing element in a system for magnetic induction tomography. A system using an excitation coil and a planar gradiometer was compared against a system with two coils. We constructed one excitation coil, two different sensing elements and a high-resolution phase detector. The first sensor was a PCB square spiral coil with seven turns. The second sensor was a PCB planar gradiometer with two opposite square spirals of seven turns, with a distance between centres of 8 cm. Theoretical sensitivity maps were derived from basic equations and compared with experimental data obtained at 150 kHz. The experimental sensitivity maps were obtained measuring the perturbation produced by a brass sphere of 12 mm in empty space. The advantage of using a gradiometer is that it can be adjusted to give a minimum signal for homogeneous objects, while increasing the sensitivity to local perturbations of the conductivity. Results show that a system using a planar gradiometer as detector has less demanding requirements for the electronic system than a system using simple coils.

Electric Impedance↗
PubMed2001

Magnetic induction tomography: hardware for multi-frequency measurements in biological tissues.

Magnetic induction tomography (MIT) is a contactless method for mapping the electrical conductivity of tissue. MIT is based on the perturbation of an alternating magnetic field by a conducting object. The perturbation is detected by a voltage change in a receivercoil. At physiologically interesting frequencies (10 kHz-10 MHz) and conductivities (< 2 S m(-1)) the lower limit for the relative voltage change (signal/carrier ratio = SCR) to be resolved is 10(-7)-10(-10). A new MIT hardware has been developed consisting of a coil system with planar gradiometers and a high-resolution phase detector (PD). The gradiometer together with the PD resolves an SCR of 2.5 x 10(-5) (SNR = 20 dB at 150 kHz, acquisition speed: 100 ms). The system operates between 20 and 370 kHz with the possibility of extending the range up to 1 MHz. The feasibility of measuring conductivity spectra in the beta-dispersion range of biological tissues is experimentally demonstrated. An improvement of the resolution towards SCR = 10(-7) with an SNR of > or = 20 dB at frequencies > 100 kHz is possible. On-line spectroscopy of tissue conductivity with low spatial resolution appears feasible, thus enabling applications such as non-invasive monitoring of brain oedema.

Brain Edema↗
PubMed2000

Algorithms for parametric images in MEIT systems.

In this work we show the algorithms developed to extract the Cole parameters from multi-frequency EIT. With these parameters it is possible to obtain information about various different tissues and their pathologies. The algorithms developed obtain the Cole-model parameters from the real and imaginary parts of impedance, or using only the real part, without problems of convergence. A study of the influence of noise is performed with simulations. We find a correct solution in all cases with signal to noise ratio in the data higher than 40 dB. Finally, we show parametric images of the human abdomen obtained with these algorithms.

Abdomen↗
PubMed2000

Percutaneous electrocatheter technique for on-line detection of healed transmural myocardial infarction.

Healed myocardial infarction has been recognized by its particular tissue electrical impedance spectrum measured with intramural needle electrodes in animal models. The aim of this study was to develop a percutaneous approach for in vivo recognition of areas of healed myocardial infarction by measuring myocardial electrical impedance with an intracavitary contact electrocatheter. Electrical impedance (resistance and phase angle) of normal myocardium and of a 2-month-old anterior transmural infarction were measured in nine chloralose anesthetized pigs by applying alternating currents from 1 kHz to 1 MHZ between a bipolar intracavitary catheter and a reference electrode placed on the epicardium (group I, n = 4) or on the precordium (group II, n = 5). Resistance of the infarcted myocardium was lower than that of healthy tissue at all current frequencies (ANOVA, P < 0.001) (i.e., at 1 kHz: 15 +/- 4 omega vs 50 +/- 19 omega in group I, and 64 +/- 13 omega vs 76 +/- 13 omega in group II). Phase angle at 316 kHz best differentiated transmural infarction from normal tissue (group I: -2.5 +/- 1.9 degrees vs -14.8 +/- 4.6 degrees, P < 0.001; group II: +0.7 +/- 1.0 degrees vs -2.7 +/- 1.4 degrees, P < 0.001). This study shows that analysis of myocardial impedance spectrum using a percutaneous intracavitary contact catheter approach permits on-line recognition of areas of healed transmural myocardial infarction. This technique may be useful to optimize clinical application of energy sources (i.e., radiofrequency ablation, laser myocardial revascularization).

Analysis of Variance↗
PubMed1999

In vivo and in situ ischemic tissue characterization using electrical impedance spectroscopy.

The investigation of processes of ischemia in different organ tissues is very important for the development of methods of protection and preservation during surgical procedures. Electrical impedance spectroscopy was used to distinguish between different tissues and their degree of ischemia. We describe mathematical methods used to adjust experimental data to Cole-Cole models for one-circle and two-circle impedance loci and a study of the main parameters for representing the behavior of ischemia in time. In vivo and in situ postmortem measurements of different tissues from pigs are shown in the 100 Hz to 1 MHz range. The Cole parameters that best characterize the ischemia are R0 and fc.

Animals↗
PubMed1998

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) and the other not linked to NF1-but no molecular alterations have been described in these families. We describe a three-generation family that includes five members affected by SNF. All the affected members presented multiple spinal neurofibromas and café au lait spots, one member had cutaneous neurofibromas, and some members had other signs of NF1. Genetic analysis, performed with markers within and flanking the NF1 gene, showed segregation with the NF1 locus. Mutation analysis, performed with the protein-truncation test and SSCP/heteroduplex analysis of the whole coding region of the NF1 gene, identified a frameshift mutation (8042insA) in exon 46, which should result in a truncated NF1 protein. The 8042insA mutation was detected in all five family members with the SNF/NF1 phenotype. To our knowledge, this is the first time that a mutation in the NF1 gene has been associated with SNF. The clinical homogeneity in the severity of the disease among the affected members of the family, which is unusual in NF1, suggests that a particular property of the NF1 mutation described here, a gene closely linked to NF1, or posttranscriptional events are involved in this severe neurological phenotype.

Adult↗
PubMed1998

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms indicated the presence of two different breakpoints in the Y fragment. However, the clinical features were very similar in five of the cases, showing a male phenotype with small testes, testicular atrophy, and azoospermia. All these patients have normal intelligence and a stature within the normal male range. In the remaining case, the diagnosis was made prenatally in a fetus with male genitalia detected by ultrasound and a 46,XX karyotype in amniocytes and fetal blood. Molecular analysis of fetal DNA showed the presence of the SRY gene. FISH techniques also showed Y chromosomal DNA on Xp22.3 in metaphases of placental cells. To our knowledge, this is the second molecular prenatal diagnosis reported of an XX male.

DNA-Binding Proteins↗
PubMed1997

MRI of a family with focal abnormalities of gyration.

Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members.

Adult↗
PubMed1996

A parallel broadband real-time system for electrical impedance tomography.

This paper deals with the design, implementation and performance of TIE-4sys, an electrical impedance tomograph. This instrument is a parallel broad-band real-time system. It measures impedance using an array of 16 electrodes and reconstructs the images using a weighted back-projection technique. The objective of this development is to enable multifrequency EIT clinical studies to be undertaken. The system is capable of acquiring 25 frames/s and makes multifrequency cardiac-gated images. The frequency range is from 10 kHz to 250 kHz and the signal to noise ratio for the real component is better than 60 dB.

Electric Impedance↗
PubMed1996

Broadband quasi-differential multifrequency electrical impedance imaging system.

Dynamic and multifrequency imaging methods have been demonstrated both theoretically and experimentally. Multifrequency methods are able to produce images of static structures inside the measured object. Data collection systems, however, are affected by errors due to their non-ideal frequency behaviour. If the frequencies used in the measurement were close enough, the system would behave in almost the same way. In this case, however, the impedance change displayed by biological tissues is small, so the situation is similar to dynamic imaging. We call this method the quasi-differential imaging method. We have designed and built an instrument able to apply signals from 1 kHz to 1 MHz, with frequency increments of 10 Hz. Patient interface circuits and demodulators were designed to display a flat response in the full frequency range of operation. Signals are digitized with 16 bit resolution and sent to the host computer using a high-speed serial interface. This allows a maximum measurement speed of about 8 images/s. All the system parts were full characterized out of the system and the results of these measurements are given as an indication of the limits of its use as a quasi-static imaging or quasi-differential imaging data collection system.

Electric Impedance↗