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Biomedical subjects

S Puig

Publications and source records attributed to S Puig.

At least 55 records · Page 3Linked to original sources

[Internal derangement of the temporomandibular joint].

Internal Derangement is one of the most common disorders of the Temporomandibular joint. It is defined as an abnormal anatomical relationship between the discus articularis and the other structures of the temporomandibular joint. More than 2/3 of patients with clinical symptoms of the temporomandibular joint have an internal derangement. The most frequent finding in internal derangement is an anterior dislocation of the disc with reduction after mouth opening. In more severe cases a complete anterior dislocation is found without reduction of the disc. Internal derangement is a risk factor for developing osteoarthritis with remodeling of the condylus and the fossa mandibularis. The most important modalities of radiologic diagnosis are arthrography, CT and MRI. The diagnosis of craniofacial dysfunction has been improved dramatically by modern imaging techniques, which have become essential tools for primary diagnostic and evaluation after conservative or surgical therapy. MRI has become the gold standard.

Humans↗

[Traumatic temporomandibular joint injuries].

Injuries of the temporomandibular joint are mostly due to injuries or fractures of the mandibular condyle. Fractures of the skull base involving the temporomandibular joint are rare. Classification of fractures refers to their anatomical positions and the presence or absence of a luxation. Further, it is important whether the fracture is intra- or extra-capsular. The primary imaging method should be orthopantomography. As for therapy planning, especially surgery, also evaluation of soft tissue is necessary, computed tomography is the imaging method of choice. For diagnosis of complications or internal derangement of the temporomandibular joint, magnetic resonance imaging is to be recommended.

Humans↗

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity (LOH) is a common phenomenon in this neoplasia, it only accounts for part of the somatic NF1 mutations found. Somatic point mutations or the presence of "two hits" in the NF1 gene have only been reported for a few neurofibromas. The large size of the NF1 gene together with the multicellular composition of these tumors has greatly hampered their molecular characterization. Here, we present the somatic NF1 mutational analysis of the whole set of neurofibromas studied by our group and consisting in 126 tumors derived from 32 NF1 patients. We report the identification of 45 independent somatic NF1 mutations, 20 of which are reported for the first time. Different types of point mutations together with LOH affecting the NF1 gene and its surrounding region or extending along the 17q arm have been found. Among point mutations, those affecting the correct splicing of the NF1 gene are common, coinciding with results reported on germline NF1 mutations. In most cases, we have been able to confirm that both copies of the NF1 gene are inactivated. We have also found that both somatic and germline mutations can be expressed at the RNA level in the neoplastic cells. Furthermore, we have observed that the study of more than one tumor derived from the same patient is useful for the identification of the germline mutation. Finally, we have noticed that the culture of neurofibromas and their fibroblast clearance facilitates LOH detection in cases in which it is difficult to determine.

Alleles↗

Bilaminar pattern of tibial condyle cartilage layer on the fat-suppressed 3D gradient echo images: artifact or structural and biochemical difference in composition of cartilage?

The purpose of this study was to examine if an unusual bilaminar pattern of lateral tibial condyle cartilage layer on the fat-suppressed three-dimensional (3D) spoiled gradient echo sequence is artifactual or correlates with structural and/or biochemical composition of cartilage. The laminar appearance of the lateral tibial condyle cartilage layer was studied on fat-suppressed 3D spoiled gradient echo MR images of the knee joint in 67 patients (mean age: 28y) performed at 1.0 Tesla. After i.v. administration of gadopentetate dimeglumine, diffusion of the contrast media into cartilage layer was qualitatively analysed over time on inversion recovery spin echo images of knee joints of five asymptomatic volunteers (mean age: 25y). In a patient with osteosarcoma and total knee replacement, MR examination of cartilage layer of lateral tibial plateau was compared with histologic specimens stained with Safranin-O, demonstrating proteoglycan distribution in cartilage. The retrospective analysis of 67 knee joints revealed a bilaminar appearance of lateral tibial condyle cartilage layer in the gradient echo images in the majority of cases (81%) with a statistically significant tendency to a trilaminar pattern in patients older than 20 years. With i.v. contrast administration, the contrast enhancement was only observed in the superficial zone of tibial cartilage layer. Histologic specimens in one patient demonstrated a good correlation between thickness of proteoglycan-free and proteoglycan-rich laminae of lateral tibial condyle on Safranin-O staining with hyperintense and hypointense zones, respectively, on corresponding fat-suppressed 3D spoiled gradient echo images (correlation coefficient of 0.87). Bilaminar pattern of tibial condyle cartilage layer on fat-suppressed 3D spoiled gradient echo images in younger subjects is not an artifact or an intrachondral lesion, but it may represent a regional difference in composition of extracellular cartilage matrix possibly produced by a highly-oriented collagen fiber structure associated with a high concentration of proteoglycans in the middle and deep portion of the cartilage layer.

Adolescent↗

Validation of a chromatographic method to determine E-6006 and its metabolite E-6332 in rat and dog plasma by solid-phase extraction and capillary gas chromatography. Application in pharmacokinetics.

E-6006, 5-(alpha-[2-(dimethylamino)ethoxy]-2-thienylmethyl)-1-methyl-1H-pyrazole is a new antidepressive compound and E-6332, 5-(alpha-[2-(methylamino)ethoxy]-2-thienylmethyl)-1-methyl-1H-pyrazole is its desmethylate metabolite. With the aim of quantifying E-6006 and E-6332, simultaneously in rat or dog plasma, a method of analysis based on solid-phase extraction coupled with capillary gas chromatographic system with N-P detection was developed and validated. E-6006, E-6332 and its internal standard (E-4018) were isolated from plasma using an off-line semiautomatic solid-phase extraction method. Gas chromatography separations were carried out by means of 12 m length, 0 2 mm (i.d.) and 0.33 microm (f.t.) ULTRA 1 type capillary column in splitless mode of injection at 190 degrees C, with a TSD or specific nitrogen--phosphorus detector. No peaks interfering with the quantification of E-6332 and E-6006 were observed. The limit of quantification was 5 ng/ml with a precision and accuracy <17%. The peak height ratios were proportional to E-6332 and E-6006 concentration over the range from 5 to 600 ng/ml (r(2)>0.998). Mean recoveries of E-6332, E-6006 and internal standard from rat plasma were between 57.1 and 82.6. Intra-assay precision coefficients were <8.0 and <11.8%, respectively, for E-6332 and E-6006, with an accuracy <12.6 and <9.7%. Both inter-assay precision and accuracy were within acceptable limits (<15%). In dog, the results were very similar to those obtained in rat. To show an example of the suitability of the method to determine E-6332 and E-6006, plasma profiles obtained after single oral and intravenous administration of 20 mg/kg to rats and 25 mg/kg to dogs are reported.

Animals↗

Prevalence of psoriasis in Spain (Epiderma Project: phase I).

BACKGROUND: Various national and international studies are under way to obtain reliable data on the epidemiological features of psoriasis. OBJECTIVES: The purpose of this study was to determine the prevalence of psoriasis in the general population in Spain as well as its variations according to sex, age and distribution in different geographical areas. MATERIAL AND METHODS: A random sample (12,938 subjects from 4027 households), representative of the general population, was the basis for a cross-sectional survey through telephone calls performed by trained non-medical interviewers using a specific questionnaire. RESULTS: The prevalence of psoriasis, similar in both sexes, was estimated to be 1.17-1.43%. The highest prevalence rates were shown among 20-50-year-old subjects. Distribution of psoriatic patients was not homogeneous throughout the country and prevalence was shown to be higher in the central dry region of the country. CONCLUSIONS: In a population of about 40 million inhabitants, 470,000-570,000 psoriatic subjects constitute an important target for health care issues and further epidemiological studies.

Adolescent↗

Improvement of thigh muscles by neuromuscular electrical stimulation in patients with refractory heart failure: a single-blind, randomized, controlled trial.

OBJECTIVE: To determine the impact of an 8-wk neuromuscular stimulation program of thigh muscles on strength and cross-sectional area in patients with refractory heart failure listed for transplantation. DESIGN: Forty-two patients with a stable disease course were assigned randomly to a stimulation group (SG) or a control group (CG). The stimulation protocol consisted of biphasic symmetric impulses with a frequency of 50 Hz and an on/off regime of 2/6 sec. RESULTS: Primary outcome measures were isometric and isokinetic thigh muscle strength and muscle cross-sectional area. Our results showed an increase of muscle strength by mean 22.7 for knee extensor and by 35.4 for knee flexor muscles. The CG remained unchanged or decreased by -8.4 in extensor strength. Cross-sectional area increased in the SG by 15.5 and in the CG by 1.7. CONCLUSIONS: Activities of daily living as well as quality of life increased in the SG but not in the CG. Subscales of the SF-36 increased significantly in the SG, especially concerning physical functioning by +7.5 (1.3-30.0), emotional role by +33.3 (0-66.6), and social functioning by +18.8 (0-46.9), all P < 0.05. Neither a change nor a decrease was observed in the CG. Neuromuscular electrical stimulation of thigh muscles in patients with refractory heart failure is effective in increasing muscle strength and bulk and positively affects the perception of quality of life and activities of daily living.

Activities of Daily Living↗

Characterization of the Saccharomyces cerevisiae high affinity copper transporter Ctr3.

Copper is an essential nutrient required for the activity of a number of enzymes with diverse biological roles. In the bakers' yeast Saccharomyces cerevisiae, copper is transported into cells by two high affinity copper transport proteins, Ctr1 and Ctr3. Although Ctr1 and Ctr3 are functionally redundant, they bear little homology at the amino acid sequence level. In this report, we characterize Ctr3 with respect to its localization, assembly, and post-transcriptional regulation. Ctr3 is an integral membrane protein that assembles as a trimer to form a competent copper uptake permease at the plasma membrane. Whereas the CTR1 and CTR3 genes are similarly regulated at the transcriptional level in response to copper, post-transcriptional regulation of these proteins is distinct. Unlike Ctr1, the Ctr3 transporter is neither regulated at the level of protein degradation nor endocytosis as a function of elevated copper levels. Our studies suggest that Ctr3 constitutes a fundamental module found in all eukaryotic high affinity copper transporters to date, which is sufficient for copper uptake but lacks elements for post-transcriptional regulation by copper.

Antiporters↗

Stress response and expression patterns in wine fermentations of yeast genes induced at the diauxic shift.

During wine fermentation yeasts quickly reach a stationary phase, where cells are metabolically active by consuming sugars present in grape must. It is, consequently, of great interest at this stage to identify suitable gene promoters that may be used to induce the expression of genes with enological applications. With this aim, we have studied a group of genes showing an induction peak at the diauxic shift, and possessing stress response elements (STRE) at their promoters. We have determined their induction levels under individualized stress conditions, such as carbon source starvation or high salt concentrations. In all the cases studied, the activation and/or basal transcription are dependent on the transcriptional factors Msn2p and Msn4p. We have analysed the expression patterns and mRNA levels during wine fermentation, and have found that they are all activated at the stationary phase. Finally, we have identified SPI1, a new highly expressed yeast gene which is specifically induced at the stationary phase of both microvinification and laboratory growth conditions.

Blotting, Northern↗

Does (99m)Tc-Sestamibi in high-grade malignant brain tumors reflect blood-brain barrier damage only?

(99m)Tc-Sestamibi (MIBI) has been successfully applied in recurrent glioblastoma. The aim of this study was to evaluate the incremental diagnostic information of MIBI as a tumor-avid radiopharmaceutical compared with (99m)Tc-pertechnetate ((99m)Tc) as sole indicator of the integrity of the blood-brain barrier. Twenty-five patients with confirmed recurrent brain tumors were included. MIBI SPET was performed 10 min after injection of 555 MBq MIBI intravenously with a triple-headed gamma camera equipped with LE-UHR-PAR collimators over 360 degrees (3 degrees /step) and stored in a 128(2) matrix. Identical acquisition parameters were used for (99m)Tc SPET, which was acquired 3 h after injection of 740 MBq (99m)Tc. Normalized tumor uptake (NU) was calculated from attenuation-corrected transaxial slices. In addition, tumor/plexus, tumor/nasopharynx, and tumor/parotid gland ratios were assessed in both studies. No statistically significant differences were detected for the mean NU of tumor tissue with MIBI (0.26 +/- 0.10) and (99m)Tc (0.39 +/- 0. 33) and for the tumor/nasopharynx and tumor/parotid gland ratios; only the tumor/plexus ratio was significantly higher for (99m)Tc than for MIBI (p < 0.05). In conclusion, our data indicate that MIBI scintigraphy in brain tumors at 10 min postinjection reveals no additional visual information over that provided by the conventional (99m)Tc-pertechnetate brain scan, and in addition, tracer retention reflects primarily blood-brain barrier damage.

Adult↗

[Diagnostic imaging in neonatal stroke].

UNLABELLED: A cerebral artery infarction is an important differential diagnosis in the newborn with neurological abnormalities. Based on clinical data, its incidence is estimated to be 1 in 4000 newborns. Since the course is often subclinical, the true incidence is probably higher. DIAGNOSIS: Cerebral ultrasound and Doppler sonography as readily available screening tools play a central role in the initial diagnosis of neonatal cerebral infarction. Definitive diagnosis is made by computed tomography or magnetic resonance imaging. Beside symptomatic anticonvulsive therapy, treatment aims at the prevention of secondary ischemic injury. DISCUSSION: Three term infants with different clinical courses of neonatal stroke are presented to sensitize the clinician and the radiologist for this probably underdiagnosed entity. The role of imaging modalities in the diagnosis and follow-up of neonatal cerebral infarction is discussed.

Brain Damage, Chronic↗

[Chest X-ray of the neonate].

In diagnostic imaging of thoracic pathologies in mature and especially immature neonates, chest X-ray has a leading position. Profound knowledge of the normal chest X-ray and the potential physiological perinatal changes is the basic requirement for interpretation of the X-ray of a neonate. Childhood pathology: Many congenital and acquired diseases that the radiologist is faced with in neonatology are unknown in the imaging of adults. Many of these changes are life-threatening or may have an impact on the patient's future quality of life. Therefore early diagnosis in close cooperation with the paediatrician is essential. We give here an overview of the most important pathologic changes that the radiologist may be confronted with in daily routine.

Adult↗

["Lines and tubes" in neonatal intensive care patients].

BACKGROUND: Central catheters in neonatological intensive care patients are used for the prolonged application of medication or parenteral infusions. Dislocations and septic and thromboembolic complications may occur. CONTROL OF POSITION: Radiologically, the correct position of the catheter must be proven. Dislocations or complications associated with central catheters must be diagnosed. For catheter monitoring plain film radiographs are the first line of investigation; however, sonography may be of additional assistance. Angiographic techniques should only be performed when conventional noninvasive methods do not supply satisfactory results. Special knowledge is necessary for monitoring catheters that are set via the umbilical artery or vein. The radiological applications for catheter monitoring in the neonate intensive care unit are discussed in this article.

Catheterization, Central Venous↗

[Necrotizing enterocolitis (NEC) in the newborn].

Necrotizing enterocolitis (NEC) is a disease of the premature neonate that requires early therapy, sometimes even surgery and therefore early diagnosis. In general, plain radiography of the abdomen and sonography are valuable imaging techniques for diagnosis of NEC. COURSE OF NEC: The disease starts with distension of small bowel loops. Furthermore the children develop pneumatosis in the bowel wall, which is a nonspecific pattern. If the NEC persists, the air passes into the portal vein system, causing a pneumoportogram. Finally, the disease can lead to perforation. In doubtful cases, the plain radiogram must be repeated within a period of 6 h. With sonography distension of the bowel, thickening of and pneumatosis in the bowel wall, the pneumoportogram and free intraperitoneal fluid can be easily depicted. The most common complications of NEC are intestinal stenosis and strictures that can lead to ileus. DIFFERENTIAL DIAGNOSIS: Focal perforation of ileum, volvulus and Hirschsprung's disease are some of the differential diagnoses.

Diagnosis, Differential↗

Expression levels and patterns of glycolytic yeast genes during wine fermentation.

Promoters from glycolytic genes are widely used for gene overexpression in the yeast Saccharomyces cerevisiae. Wine strains are not an exception, and genes of enological interest have been expressed in this way. However, the transcriptional pattern of glycolytic genes has never been studied during wine fermentation. In this work we describe the levels and expression patterns of glycolytic genes for a wine yeast strain during the alcoholic fermentation of three different musts. Results show similar transcriptional patterns for all genes studied: maximal levels of mRNA at the exponential growth stage, and a gradual decrease during the stationary phase, in accordance with the fermentation rates. The glyceraldehyde 3-phosphate dehydrogenase genes reach the highest transcriptional levels during wine fermentation, similarly as previously described for laboratory strains and conditions.

Fermentation↗

Periosteal osteoblastoma: a case report and a review of the literature.

Osteoblastomas located on the surface of cortical bone, so-called periosteal (juxtacortical) osteoblastomas, are extremely rare. A 24-year-old man complained of pain and swelling in the left knee. The clinical and radiological investigation showed a tumor located in the posterior portion of the distal shaft of the femur. The radiological differential diagnosis included parosteal osteosarcoma, periosteal chondroma and periostitis ossificans. A frozen section was obtained and histology revealed an osteoblastoma with large epithelioid-appearing osteoblasts consistent with an aggressive osteoblastoma. An en bloc resection of the tumor was performed and the definitive histology of the whole specimen revealed a typical osteoblastoma. The authors draw attention to the fact that periosteal osteoblastoma is a rare tumor that could be mistaken clinically and histologically for other and more common tumors at this location.

Adult↗

Magnetic resonance imaging of articular cartilage and evaluation of cartilage disease.

Clinical magnetic resonance imaging of articular cartilage is possible by using techniques that offer high contrast between articular cartilage and adjacent structures in reasonable examination times. The fat-suppressed, three-dimensional, spoiled gradient-echo sequence has been reported to be accurate and reliable, and the addition of this sequence to a routine examination does not significantly compromise patient throughput. Fast spin-echo imaging also shows promise in the clinical evaluation of articular cartilage, because the newer, stronger-gradient systems allow thinner slice acquisition with two-dimensional sequences. Together, these sequences allow the evaluation of intrachondral lesions and surface defects. Furthermore, quantitative measurements of cartilage volume for follow-up studies are possible with the use of the fat-suppressed, three-dimensional, spoiled gradient-echo sequence.

Cartilage Diseases↗