Search PubMed⌕ Search

Biomedical subjects

J Pujol

Publications and source records attributed to J Pujol.

At least 19 recordsLinked to original sources
PubMed2006

Global and regional volume changes in the brains of patients with phenylketonuria.

BACKGROUND: Although phenylketonuria is a treatable disease, patients with late or nonoptimal phenylalanine-restricted diet may experience brain damage. The authors used tridimensional MRI and a voxelwise analysis method to investigate possible volume changes in the brain parenchyma of patients with phenylketonuria. METHODS: The authors assessed 27 treated patients (mean age +/- SD, 20 +/- 7 years) and 27 matched control subjects. Global tissue volumes were compared, and statistical parametric maps of between-group regional volume differences were obtained for gray and white matter. Anatomic data were correlated with relevant clinical and biochemical variables. RESULTS: Patients with phenylketonuria showed smaller gray matter volumes that were associated with lower IQ and older age at diagnosis. Voxel-based maps revealed that significant gray matter volume reduction occurred in motor and premotor cortex and thalamus. A relative increase in gray matter volume was observed in the ventral part of the striatum. The authors found no group differences for global white matter measurements. Higher recent phenylalanine levels, however, were associated with larger global white matter volume in early-treated patients. Voxel-based maps showed a relative volume reduction in periventricular white matter and a relative increase in the region of the internal capsule, extending to the adjacent thalamus and striatum. CONCLUSIONS: Treated patients may show significant gray and white matter volume changes related to the duration and strict observation of dietary treatment. Further studies are needed to investigate whether the presence of neurologic symptoms may be explained by specific anatomic alterations.

Adolescent↗
PubMed2006

Myelination of language-related areas in the developing brain.

BACKGROUND: The rapid development of language abilities in early childhood coincides with a similarly accelerated progression in brain maturation. OBJECTIVE: To quantitate myelination in the lateral part of the verbal left hemisphere from birth to 3 years in the living human brain. METHODS: One hundred children (mean age 16.6 months) were examined using three-dimensional MRI, and a subgroup of 40 children were also evaluated behaviorally. The volume of myelinated white matter was measured in language-related temporal and frontal regions and in the central sensorimotor region. A method was developed to compose a movie sequence for all the myelination process using volumetric data. RESULTS: A plot of age against relative volume of myelinated white matter graphically detailed the myelination progress in the lateral brain. The changes started in sensorimotor white matter and the Heschl gyrus and ultimately extended to the language-related areas. Both comprehension and production regions showed a very similar myelination course, suggesting simultaneous maturation of the temporofrontal language network. The movie sequence of white matter images dynamically displayed the anatomic details of myelin deposition in this part of the brain. The analysis of language performance showed acceleration in children's vocabulary after 18 months, once a rapid myelination phase was attained in the language brain. CONCLUSIONS: This volumetric study may contribute to further characterize the early stages of brain maturation by showing the fine progression of myelin deposition in the language domains and illustrating its relationship to children's vocabulary acquisition.

Brain↗
PubMed2004

[Disorders of the peritoneum].

The peritoneum is an important actor in diseases of the abdomen: defects of the peritoneum or mesos may lead to internal hernias; developmental anomalies of the peritoneum may lead to volvulus and bowel obstruction; diffuse or localized primary or secondary tumors of the peritoneum may develop; infectious, inflammatory or ischemic primary diseases of the peritoneum may cause abdominal pain, sepsis or result in the formation of fluid collections. The purpose of this presentation is to illustrate the role of imaging in the diagnosis of these different diseases and to provide some guidelines allowing their detection and characterization.

Hernia↗
PubMed2003

Optical performance in eyes wearing two multifocal contact lens designs.

The optical performance of eyes wearing soft multifocal contact lenses was studied using the double-pass technique. Retinal image quality was measured in a group of six eyes wearing two different designs of multifocal lenses: an aspheric design and a spheric multicurve design. Measurements were performed for far, intermediate and near vision conditions and with two different pupil diameters: 3 and 5 mm. The results show that the best optical performance is obtained for far vision conditions when no lens is worn. For near vision conditions, the optical performance when the lens is worn is, in general, better than when no lens is worn. When the lens is worn, the optical performance for far and intermediate vision conditions is similar for the aspherical design, but it decreases for near vision conditions. For the spherical multicurve design, the optical performance obtained for far vision conditions is similar to that obtained for intermediate vision conditions for low values of object vergence, but decreases when the object vergence is high and therefore also for near vision. In general, the differences in optical performance are greater for small pupil diameters (3 vs 5 mm). The general trends of the results obtained by computing the modulation transfer function of the contact lens-eye system can also be shown qualitatively by means of double-pass images or quantitatively by computing the Imax/Imed of the image.

Adult↗
PubMed2002

Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico.

The study of the genetics of the Major Histocompatibility Complex (MHC) in Amerindians is of great value in understanding the origins and migrations of these native groups, as well as the impact of immunogenetics on the epidemiology of diseases affecting these populations. We analyzed, using Polymerase Chain Reaction and Sequence Specific Oligonucleotide Probes (PCR-SSOP), DRB1, DQA1, DQB1 alleles and the promoter regions of DQA1 and DQB1 genes in 31 unrelated and 24 related Seri, a Mexican Indian group, from the state of Sonora (Northwest Mexico). The class II genotypes of this population were found to be in genetic equilibrium. The allele frequency (AF) of the prevalent DRB1 alleles were DRB1*0407 (48.4%), DRB1*0802 (33.9%) and DRB1*1402 (16.1%). The most frequent DQA1 and DQB1 alleles were DQA1*03011 (AF = 50.00%), DQA1*0401 (AF = 33.87%) and DQA1*0501 (AF = 16.13%); DQB1*0302 (AF = 50.00%), DQB1*0402 (33.87%) and DQB1*0301 (16.13%); which were in combination with DRB1*0407, DRB1*0802 and DRB1*1402, respectively. Three QAP and three QBP alleles were present (QAP 3.1, 4.1, 4.2; QBP 3.1, 3.21, 4.1) associated with the typical published DQA1 and DQB1 alleles. Four class II haplotypes were present in family members: DRB1*0407-QAP-3.1-DQA1*03011-QBP-3.21-DQB1*0302; DRB1*0802-QAP-4.2-DQA1*0401-QBP-4.1-DQB1*0402; DRB1*1402-QAP-4.1-DQA1*0501-QBP-3.1-DQB1*0301 and DRB1*0701-QAP-2.1-DQA1*0201-QBP-2.1-DQB1*0201. The family data were used to confirm extended haplotypes. A total of 21 haplotypes were found when A* and B* loci were also considered. The three most frequent combinations included A*0201-B*3501-DRB1*0407, A*3101-B*5101-DRB1*0802, and A*0201-B*40-DRB1*1402.

Emigration and Immigration↗
PubMed2002

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico.

The study of the genetic structure is very useful for investigating the biological significance of polymorphism and may provide clues to understand population origins. We present TAP1/TAP2 gene analysis in the Seri indians from Sonora, and in Mestizos from the highlands of Mexico. Thirty-two Seri and 89 Mestizos were studied. TAP genes were typed using the ARMS-PCR technique. The most frequent alleles in Seri were: TAP1*0101/02, (68.8%); TAP1*02011/02012, (31.2%); TAP2*0201, (38.7%) and TAP2*0101, (29.0%). TAP1*0301, TAP1*0401, TAP2*0102 TAP2*0103 and TAP2H were absent in them. For Mestizos, the prevalent alleles were: TAP1*0101/02 (75.8%); TAP1*02011/12 (20.3%); TAP2*0101 (45.4%) and TAP2*0201 (29.3%). These results are similar to those found in Kaingang and Caucasians from Brazil, four Mediterranean, other Caucasians, two Oriental and one African group. In Seri, the extended prevalent haplotypes are typically Amerindian, such as TAP1*0101/2-TAP2*0201-QBP3.21-DQB1*0302-QAP*3.1-DQA1*03011-DRB1*0407-B*3501-A*0201 (HF = 16.6%). Thirty-two extended haplotypes were found in Seri, although TAP contributed scarcely to diversity. Mestizos show Amerindian and Caucasian combinations. No difference was detected in the distribution of amino acids in the individual variable sites, between both groups. These findings are the basis for further anthropological studies and to explore the contribution of TAP genes to disease expression in Mexicans.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2002

Image quality in wearers of a centre distance concentric design bifocal contact lens.

The optical performance of eyes wearing bifocal concentric contact lens was studied using the double-pass technique. Retinal image quality was measured for four subjects wearing CIBA Bisoft contact lenses presenting the central zone for correcting distance vision. Lenses with two different central optic zone diameter (COZD), 3.2 and 3.8 mm, were studied and the influence of pupil diameter and viewing distance were analysed. Results show that the best optical performance is obtained for far vision conditions when no lens is worn even if the pupil coverage by the COZD is complete. For near vision conditions, the optical performance when the lens is worn is, in general, better than when no lens is worn. When the lens is worn the best optical performance corresponds to a pupil diameter of 3 mm and far vision conditions. For this pupil diameter, variations in the situations analysed can be explained by changes in the percentage of pupil coverage corresponding to the far or the near vision zone of the lens. For a pupil diameter of 5 mm, the retinal image quality is more similar in all situations studied and pupil coverage alone cannot explain the results obtained and the influence of other parameters related to the design or contact lens fitting characteristics must be considered.

Adult↗
PubMed2001

Craniofacial anthropometric analysis in patients with 22q11 microdeletion.

Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between children (10 cases) and adults (5 cases) showed that craniofacial assessment was more demonstrative in children than in adults.

Adolescent↗
PubMed2001

The effect of medial frontal and posterior parietal demyelinating lesions on stroop interference.

Functional imaging has consistently shown that attention-related areas of medial frontal and posterior parietal cortices are active during the attentional conflict induced by color naming in the presence of distracting words (Stroop task). Such studies, however, have provided few details of the correlational nature between observed regional brain activations and reaction time delay occurring in this situation. We analyzed the effect of medial frontal and posterior parietal lesions on the Stroop response in a group of patients with multiple sclerosis, a neurological disorder in which Stroop response speed is affected to varying degrees. Forty-five patients were assessed using a computer-presented verbal version of the Stroop task and specific MRI protocol. Demyelination areas were measured on five anatomical divisions of the medial frontal white matter and on white matter of the posterior parietal lobe. We found that a combination of frontal and parietal lesion measurements accounted for 45% of the Stroop interference time variance. Patients with more right frontal than left parietal demyelination showed slowed Stroop responses, whereas the predominance of lesions in the left posterior parietal region was associated with a reduced Stroop interference. These results may contribute to defining the specific participation of these attention-related brain areas in the conflict of attention represented by the Stroop paradigm. They also help to explain the variability of the Stroop effect in multiple sclerosis patients and suggest that the Stroop test does not assess just a single cognitive operation, but rather the combined effect of anatomically segregated neural processes.

Adult↗
PubMed2001

Blood pressure variability and leukoaraiosis amount in cerebral small-vessel disease.

OBJECTIVES: To analyze the correlation between blood pressure (BP) variability and leukoaraiosis (LA) amount in patients with symptomatic cerebral small-vessel disease. MATERIALS AND METHODS: We included 25 hypertensive patients: 13 with Binswanger's disease (BD) and 12 with a first-ever lacunar infarction (LI). Baseline office BP was obtained for 3 consecutive weeks. From a 24-h ambulatory BP monitoring performed 1 week later we obtained average systolic (SBP) and diastolic (DBP) BP for daytime, nighttime and 24-h periods. SBP and DBP variability was defined as the within-subject standard deviation of all readings. A standardized cerebral MR was performed in each patient and an LA score was calculated. RESULTS: No statistically significant correlation was obtained between the LA score and any of the following BP values: 1) Baseline SBP and DBP; 2) 24-h, daytime or nighttime SBP and DBP, and 3) 24-h, daytime or nighttime SBP and DBP variability. CONCLUSION: Increased BP variability is not associated with greater amounts of leukoaraiosis.

Aged↗
PubMed2001

Right prefrontal repetitive transcranial magnetic stimulation in obsessive-compulsive disorder: a double-blind, placebo-controlled study.

OBJECTIVE: The efficacy of repetitive transcranial magnetic stimulation (rTMS) of the right prefrontal cortex for patients with obsessive-compulsive disorder (OCD) was studied under double-blind, placebo-controlled conditions. METHOD: Patients were randomly assigned to 18 sessions of real (N=10) or sham (N=8) rTMS. Treatments lasted 20 minutes, and the frequency was 1 Hz for both conditions, but the intensity was 110% of motor threshold for real rTMS and 20% for the sham condition. RESULTS: No significant changes in OCD were detected in either group after treatment. Two patients who received real rTMS, with checking compulsions, and one receiving sham treatment, with sexual/religious obsessions, were considered responders. CONCLUSIONS: Low-frequency rTMS of the right prefrontal cortex failed to produce significant improvement of OCD and was not significantly different from sham treatment. Further studies are indicated to assess the efficacy of rTMS in OCD and to clarify the optimal stimulation characteristics.

Adult↗
PubMed2000

Beck Depression Inventory factors related to demyelinating lesions of the left arcuate fasciculus region.

This study was conducted to further establish the significance of the previously reported association between depressive symptoms and demyelinating lesions in the region of the left arcuate fasciculus in multiple sclerosis patients. The Beck Depression Inventory (BDI) was broken down into its main symptom categories on the basis of well-established factor analyses from the literature, and the correlation pattern between the resulting BDI subscores and lesion measurements was analyzed. We found that lesions of the left arcuate fasciculus region were selectively associated with BDI items expressing patients' Affective Symptoms and Somatic Complaints. Specifically, lesion measurements from this brain location accounted for 26% of symptom score variance of the BDI part that includes only these two factors. Performance Difficulties and Cognitive Distortions were not consistently associated with the lesion measurement. Performance Difficulties, however, showed a high correlation with the neurologic deficit detected in the physical examination. These results show that lesions in the left arcuate fasciculus region are associated with the core of the depressive syndrome rather than marginal symptoms and, thus, further suggest that this left suprainsular brain region involves white matter tracts relevant to mood regulation.

Adult↗
PubMed2000

[Aplasia after azathioprine administration: role of the thiopurine methyltransferase genetic polymorphism].

BACKGROUND: Azathioprine is an immunosuppressor drug widely used in the treatment of autoimmune diseases. Adverse effects during treatment are related to the activity of thiopurine methyltransferase (TPMT), an enzyme which plays a role in azathioprine metabolism. The presence of the allelic variants of the TPMT gene allows us to classify patients into three different groups: high, moderate and low risk of myelosuppression after receiving standard doses of azathioprine. PATIENTS AND METHODS: Study of the allelic variants of the TPMT gene in the positions 460 and 719 with PCR methods in a patient with Crohn's disease, who developed aplasia after receiving azathioprine. The study was extended to his relatives. RESULTS: The patient under study carried the most frequent variant allele of the TPMT gene associated with low enzymatic activity. The mother and one sister of the patient were also carriers of this allelic variant. CONCLUSIONS: Genotyping the allelic variants of the TPMT gene is a useful method to identify patients at moderate or high risk of myelosuppression after administration of azathioprine.

Adult↗
PubMed2000

[Neuropsychological pattern of cognitive impairment in Alzheimer type dementia and vascular dementia].

BACKGROUND: Cummings et al, 1987, hypothesized that Alzheimer dementia type (ADT) patients would present poorer performances than vascular dementia (VD) patients on the neuropsychological tests that mainly involve cortical neurological structures, and that VD would perform worse on tests that mainly involve subcortical structures. The main purpose of the research was to identify a cognitive impairment pattern that discriminates the type of dementia in the initial stages. METHOD: Two groups of patients, one affected by mild ADT (n = 30) and the other by multi-infarct dementia (VD, n = 30) were given a neuropsychological battery. The battery was composed by Temporal Orientation (Benton et al.); Vocabulary, Similarities, Digits, Coding and Kohs (WAIS) of Wechsler; the Colour-Form Test of Weigh; the Trail Making Test (A and B) (Halstead-Reitan Neuropsychological Battery); Tapping (McQuarrie); Logical Memory, Visual Memory and Paired Association (Wechsler Memory Scale) of Wechsler; Delayed Memory (Russell). The two groups were similar in age and socio-cultural features. The z-score and its statistical significance on the Mann-Whitney test were made and we performed an exploratory discriminant analysis to the classification. RESULTS: In general, results were poorer in the ADT group. But we detected no significant differences in the tests, although some test (Immediate Visual Memory and Kohs' Blocks) almost reached significance. The discriminant analysis reached a classification of the 67% of the subjects into the ADT group and the 70% of the subjects into the VD group. CONCLUSIONS: In the initial stages of dementia it is difficult to differentiate between a cortical pattern of cognitive impairment in ADT and a subcortical pattern in VD, a distinction that the other researchers have reported. When complex tests were used the performance depended on the coordination of multiple related systems. These findings are in agreement with the holistic models of higher mental functions.

Aged↗
PubMed2000

JLP5B9: new monoclonal antibody against polysialylated neural cell adhesion molecule is of value in phenotyping lung cancer.

Non-small-cell lung cancer (NSCLC) is currently one of the most prevalent malignant tumors. It displays a wide variety of phenotypes which includes neuroendocrine markers commonly found on small-cell lung cancers (SCLC) such as the neural cell adhesion molecule (NCAM) and in particular its highly polysialylated isoform, embryonic NCAM (eNCAM). NSCLC with neuroendocrine differentiation may represent a subset of tumors whose cells have a more aggressive biological behavior. A tumor marker that distinguishes this latter sub-type could be of clinical relevance. Accordingly, we have raised a monoclonal antibody of the IgM type (JLP5B9) directed against capsular polysaccharides of N. meningitidis B which bears polysialic acid groups. We have demonstrated that JLP5B9 recognizes eNCAM with high affinity and that it is specifically directed against the polysialic acid moieties of NCAM. JLP5B9 was also found to react with human SCLC, NSCLC and neuroblastoma cell lines. We then used JLP5B9 as a specific probe for the detection of tissue eNCAM and found that it was expressed on up to 20% of tumor cells obtained from 5 out of 13 patients with NSCLC. This mAb deserves further investigation to evaluate its potential as a tool for serodiagnosis of lung cancer.

Adult↗
PubMed2000

A highly sensitive method for K-ras mutation detection is useful in diagnosis of gastrointestinal cancer.

Detection of molecular features such as K-ras mutations has been used to evaluate potential tumour markers in a wide variety of clinical samples. Here we have applied a recently developed highly sensitive method for detection of K-ras codon 12 mutations to colorectal and pancreatic cancer diagnosis. We analysed 67 faecal samples from patients undergoing diagnostic colonoscopy under suspicion of colorectal cancer. PCR products were obtained in 62 of 67 (93%) faecal samples. Mutations were detected in exfoliated cells in 6 of 22 (27%) of the adenomas and in 6 of 11 (55%) of adenocarcinomas. No false positives were observed. Agreement between faecal samples and corresponding tissues was 100% for adenocarcinomas and 65% for adenomas. Mutations were also analysed in 61 pancreatic fine-needle aspirates. Mutations were detected in 36 of 45 (80%) of the pancreatic aspirates diagnosed as pancreatic cancer without false positives. Our findings suggest that, when colorectal cancer is suspected, detection of K-ras codon 12 mutations in faecal samples using this new method is specific for colorectal tumours. Additionally, this technique is a good alternative for evaluation of pancreatic masses.

Adenocarcinoma↗