Biomedical subjects
Publications and source records attributed to I Gonzalez.
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The authors report a case of a 7-month-old infant with a right lateral parietal scalp lesion intermittently leaking fluid similar to cerebrospinal fluid that histologically demonstrated meningothelial and glial cells. At surgical removal, however, no fibrous stalk or bony defect could be identified connecting the lesion with the intracranial compartment. While the embryologic mechanism of this lesion is unclear, the prognosis for normal neurological development appears excellent.
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UNLABELLED: Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. CONCLUSION: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
Mitochondrial DNA (mtDNA) depletion refers to a quantitative defect in mtDNA and is heterogeneous with regard to causal genotypes and the associated clinical phenotypes. We report two unrelated infants with mtDNA depletion. A diagnosis of methylmalonic aciduria was initially raised in both on the basis of high urine methylmalonic acid and related organic acids and elevated propionylcarnitine and methylmalonylcarnitine. Carboxylase assay with skin fibroblasts revealed low propionyl-CoA and 3-methylcrotonyl-CoA carboxylase and normal pyruvate carboxylase activities. Quantitative Southern blot analysis of mitochondrial and nuclear DNA with muscle tissues revealed the patients' mtDNA to be depleted to 24% and 39% of normal controls. Our two patients showed multiple mitochondrial dysfunction including respiratory chain defects and deficiencies in the two nuclear DNA encoded carboxylases resulting in abnormal urine organic acids. To our knowledge, there is no obvious connection between the defective pathways other than their mitochondrial locations. These two cases may represent a new entity of mitochondrial disease that might be due to a defective common mechanism, such as assembly, maintenance and transport, affecting various mitochondrial enzymes and functions. Mitochondrial depletion should be considered in infants with atypical organic aciduria that may resemblemethylmalonicaciduria, propionicacidaemia, or 3-methylcrotonyl-CoA carboxylase deficiency.
A crossed-design experimental study has been made involving simple blind paired data and random assignment to treatment, with the aim of evaluating the action of an occlusal splint with transcutaneous electric nerve stimulation (TENS) upon the manifestations of temporomandibular disorders (TMD) in patients with bruxism. The prevalence of TMD in the 24 patients with bruxism was 62.5%%; the corresponding severity, as determined by the pantographic reproducibility index (PRI), was mild (mean value: 20.71). Clicking and pain in the lateral pterygoid muscle were the most frequent clinical manifestations. The occlusal splint and TENS did not significantly improve the signs and symptoms of TMD in these patients with bruxism.
An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years thereafter. In addition, the patient had severely delayed gross motor milestones, marked muscle weakness, and dilated cardiomyopathy that progressed to congestive heart failure. He also had persistently elevated urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids and low blood levels of cholesterol. Detailed histopathologic evaluation of the skeletal muscle biopsy showed high activity of succinate dehydrogenase, a generalized decrease of COX activity, and abundant ragged-red fibers. Electron microscopic studies revealed multiple mitochondrial abnormalities in lymphocytes and monocytes, in the striated muscle, and in the postmortem samples (muscle, heart, liver, and brain). Biochemical analysis showed a pronounced and constant lactic acidosis, and abnormal urinary organic acid excretion (unchanged in the fasting and postprandial states). In addition, in CSF there was a marked increase of lactate and beta-hydroxybutyrate (beta-HOB) and also a high systemic ratio beta-HOB/acetoacetate. Enzymatic assay of the respiratory chain in biopsied muscle showed 10% of complex I activity and 24% of complex IV activity compared with controls. Molecular studies of the mitochondrial genome revealed an A to G mutation at nucleotide pair 3243 in mitochondrial DNA, a well-known pathogenetic mutation (MELAS mutation) in all the patient's tissues and also in the blood specimens of the probands mother and sibs (4 of 5). The diagnosis of MELAS mutation was reinforced by the absence of an identifiable mutation in the X-linked G4.5 gene of the propositus. The present observation gives additional evidence of the variable clinical expression of mtDNA mutations in humans and demonstrates that all clinical variants deserve adequate investigation to establish a primary defect. It also suggests adding Barth-like syndrome to the list of phenotypes with the MELAS mutation.
BACKGROUND: Cirrhotic patients who are transplanted have a high risk of developing incisional hernia (IH). MATERIALS AND METHODS: We have analysed the incidence and treatment of IH in 465 patients with liver transplantation (LT). In order to find predisposing factors, we compared these patients with a similar group of patients with LT without IH. Fifty-four patients (11.6%) developed an IH. Forty-six of these (85%) were males, and in 37% the entire laparotomy incision was involved. Forty patients have been operated on for the hernia, three by primary repair and 37 (92.5%) with a polypropylene mesh. After a follow-up of 42 months, 6 (15%) IHs recurred. Comparing groups, IH patients were older (P<0.05), of male gender (P<0.001), and received more steroids (P<0.01). The IH rate was not related to suture material. CONCLUSIONS: Our rate of IH is perhaps reasonable in these high risk patients. It appears that IH can be reduced if steroids are reduced or avoided. We recommend a large mesh for repair.
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Patients with hypereosinophilic syndrome (HES) display a very heterogeneous clinical picture ranging from asymptomatic cases to very aggressive forms. We report a 38-year-old woman with progressive HES who developed severe myelofibrosis and was treated by allogeneic stem cell transplantation, using peripheral blood (PBSCT) instead of bone marrow as the source of progenitor cells, after conditioning with cytoxan and busulphan. To the best of our knowledge, this is the first case of HES with myelofibrosis treated with PBSCT. The patient remains alive 8 months post-PBSCT, and bone marrow fibrosis has significantly decreased following transplantation. Bone Marrow Transplantation (2000) 25, 217-218.
The genes encoding the subunits of DNA topoisomerase IV (parC and parE) and DNA gyrase (gyrA and gyrB) of Streptococcus pneumoniae were cloned and overproduced in Escherichia coli by using the T7promoter-T7 RNA polymerase system. The four subunits were separately purified to near homogeneity by column chromatography. Protein purification was achieved by DEAE-sepharose, heparin-agarose, and hydroxylapatite chromatography. DNA topoisomerase IV was reconstituted when ParC and ParE were combined at a 3.8-fold excess of ParE. The reconstituted topoisomerase IV showed to generate efficient ATP-dependent DNA decatenation activity. The DNA gyrase ATP-dependent supercoiling activity was reconstituted by mixing equimolar amounts of the two gyrase subunits. The inhibitory effects of four representative fluoroquinolones on the DNA decatenation activity of topoisomerase IV and DNA supercoiling of gyrase have been examined and compared. All four compounds were more active in inhibiting topoisomerase IV than gyrase. Moreover, there was a positive correlation between the inhibitory activity against topoisomerase IV decatenation and DNA gyrase supercoiling. The classification of the four fluoroquinolones, considering their inhibitory activities in decatenation, supercoiling and growth was the following: clinafloxacin > trovafloxacin > sparfloxacin > ciprofloxacin. These results suggest these drugs primarily target topoisomerase IV of S. pneumoniae, and gyrase secondarily, in agreement with genetic data.
1. Whole-cell patch-clamp recordings were made from visually identified hippocampal interneurones in slices of rat brain tissue in vitro. Bath application of the bombesin-like neuropeptides gastrin-releasing peptide (GRP) or neuromedin B (NMB) produced a large membrane depolarization that was blocked by pre-incubation with the subtype 2 bombesin (BB2) receptor antagonist [D-Phe6, Des-Met14]bombesin-(6-14)ethyl amide. 2. The inward current elicited by NMB or GRP was unaffected by K+ channel blockade with external Ba2+ or by replacement of potassium gluconate in the electrode solution with caesium acetate. 3. Replacement of external NaCl with Tris-HCl significantly reduced the magnitude of the GRP-induced current at -60 mV. In contrast, replacement of external NaCl with LiCl had no effect on the magnitude of this current. 4. Photorelease of caged GTPgammaS inside neurones irreversibly potentiated the GRP-induced current at -60 mV. Similarly, bath application of the phospholipase C (PLC) inhibitor U-73122 significantly reduced the size of the inward current induced by GRP. 5. Reverse transcription followed by the polymerase chain reaction using cytoplasm from single hippocampal interneurones demonstrated the expression of BB2 receptor mRNA together with glutamate decarboxylase (GAD67). 6. Although bath application of GRP or NMB had little or no effect on the resting membrane properties of CA1 pyramidal cells per se, these neuropeptides produced a dramatic increase in the number and amplitude of miniature inhibitory postsynaptic currents in these cells in a TTX-sensitive manner.
Localization of ASH1 mRNA to the distal cortex of daughter but not mother cells at the end of anaphase is responsible for the two cells' differential mating-type switching during the subsequent cell cycle. This localization depends on actin filaments and a type V myosin (She1/Myo4). The 3' untranslated region (3' UTR) of ASH1 mRNA is reportedly capable of directing heterologous RNAs to a mother cell's bud [1] [2]. Surprisingly, however, its replacement has little or no effect on the localisation of ASH1 mRNA. We show here that, unlike all other known localization sequences that have been found in 3' UTRs, all the elements involved in ASH1 mRNA localization are located at least partly within its coding region. A 77 nucleotide region stretching from 7 nucleotides 5' to 67 nucleotides 3' of the stop codon of ASH1 mRNA is sufficient to localize mRNAs to buds; the secondary structure of this region, in particular two stems, is important for its localizing activity. Two regions entirely within coding sequences, both sufficient to localize green fluorescent protein (GFP) mRNA to growing buds, are necessary for ASH1 mRNA localization during anaphase. These three regions can anchor GFP mRNA to the distal cortex of daughter cells only inefficiently. The tight anchoring of ASH1 mRNA to the cortex of the daughter cell depends on translation of the carboxy-terminal sequences of Ash1 protein.
The Sierra de la Plata is an Aljibe yellow sandstone formation from the Acheulian period. There are a few shelters, some of them with rock art paintings. The most representative one, and subjected to anthropogenic pressure, is that of Atlanterra, situated in a residential area. This shelter contains some rock art paintings made with iron oxides. The bacteria present in these paintings were isolated and identified using an automatic method: fatty acid methyl esters profiling. Most of the bacteria belong to the Bacillus genus, B. megaterium being the most abundant species. The isolated strains are able to reduce hematite. This is significant due to the fact that Fe(III)-(hydr)oxides are the most abundant pigments in rock art.
The culturable microbial populations in dripping waters from Altamira cave were studied and compared with those of the ceiling rock. Water communities have low proportions of gram-positive bacteria, and are mainly composed of gram-negative rods and cocci (Enterobacteriaceae and Vibrionaceae), while those of ceiling rocks are mainly Streptomyces spp. The community differences are probably related to environmental cave conditions: high humidity, relatively low and stable temperature, water pH close to neutrality and nature of the organic matter. All these factors seem to favor colonization and long-term growth of actinomycetes over other heterotrophic bacteria on ceiling rocks.
The Txakoli is a wine from the north of Spain with acid characteristics and medium ethanol content. We report the comparative results obtained from red Txakoli elaborated with different grape varieties. We have used chromatographic methods for the characterization of this wine. The volatile compounds were analyzed the means of gas chromatography and the organic acid content was determined by a newly validated liquid chromatographic procedure. The aim of this study is to characterize the red Txakoli and to know the major differences between Hondarrabi Beltza grape variety and the other varieties. Hondarrabi Beltza grape variety is the one which was awarded the Generic Label. The major differences observed in the samples obtained from Hondarrabi Beltza variety are their higher contents in ethanol, propanol, ethyl acetate and tartaric and malic acids.
OBJECTIVE: To assess the diagnostic value of the relationship between subcutaneous tumors and the superficial fascia in the characterization of soft-tissue masses. DESIGN: MR studies of 64 soft tissue masses located in the subcutaneous space were reviewed. We established five grades of relationship between tumors and superficial fascia and analyzed the probability of the lesions in each group being malignant. Group 1 tumors did not contact the fascia; group 2 lesions contacted it slightly, with acute angles between the tumor and the fascia; group 3 lesions had wider contact with larger acute or right angles; group 4 tumors had even wider contact with obtuse angles with the fascia; and group 5 was composed of lesions that crossed the superficial fascia. RESULTS: The probability of a subcutaneous lesion that crosses the superficial fascia being malignant was 6.88 times greater than for lesions that did not cross the fascia. For lesions forming obtuse angles with the fascia the probability of malignancy was 6.3 times greater than that of tumors that did not present this sign. All histologically verified fascial infiltrations occurred in malignant lesions of groups 4 and 5. CONCLUSIONS: Malignant tumors of the subcutaneous compartment have a higher tendency to develop a close relationship with the fascia than benign lesions. Obtuse angles between superficial fascia and a subcutaneous mass or a lesion crossing the fascia strongly suggest malignancy.