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Biomedical subjects

M Martinez

Publications and source records attributed to M Martinez.

At least 55 records · Page 3Linked to original sources

Different familial transmission patterns in bipolar I disorder with onset before and after age 25.

Gene identification in common disorders such as Alzheimer disease and breast cancer has greatly profited from the use of age of onset as criterion to delineate subgroups of disease characterized by different inheritance patterns. In bipolar affective disorder, where the majority of linkage studies have produced conflicting results, studies reporting clinical characteristics and familial occurrence of disease have suggested that age of onset might serve as an indicator for identifying more homogeneous subgroups of disease. Our study was the first to examine this hypothesis by the means of segregation analysis. We investigated a sample of 177 bipolar I probands recruited from consecutive admissions and their first- and second-degree relatives (2,407 subjects). Probands were subdivided into an early-onset (n = 107) and a late-onset group (n = 70) using an age of onset of 25 as a cut-off point. This age was chosen because the observed age of onset distribution was bimodal with a cut-off of 25 years. Morbid risks for affective disorder were found significantly higher (P = 0.01) in relatives of probands with an early onset than in probands with late onset of disease. The segregation analysis showed that the disease is transmitted differently in early- and late-onset groups. In the early-onset group, a non-Mendelian major gene with a polygenic component was favored while the data in the late-onset group were compatible with a multifactorial model. This result may have important implications for future molecular studies aiming at the identification of disease-associated genes.

Adult↗

Circulating macrophages as well as developing thymocytes are enclosed within thymic nurse cells.

Both thymic nurse cells (TNCs) and macrophages have been reported to function as antigen-presenting cells during the process of MHC restriction. Negative selection, which results in the apoptosis of potentially autoreactive thymocytes, is believed to be associated with both macrophages and TNCs in the cortex. Both cell types have also been reported to ingest thymocytes undergoing positive and negative selection. However, macrophages ingest apoptotic thymocytes, while TNCs have been shown to internalize viable cells. A subset of the TNC-engulfed population is allowed to mature and is released, while the remaining fraction becomes apoptotic and is absorbed within the TNC cytoplasm through lysosomal activity. A recent report described a subset of rat TNCs that contain macrophages as well as thymocytes within their cytoplasm. We examined freshly isolated TNCs from C57BL/6 mice and found that, of the TNC population recovered, 1.7% contained macrophages within its cytoplasm. There also were macrophages tightly bound but not internalized into the multicellular structure at a rate of 2.9%. The total association of macrophages with TNCs was approximately 4.6%. This unique association of macrophages with TNCs was also observed in vitro when freshly isolated thymocytes (containing macrophages) were added to cultures of cells from the TNC cell line tsTNC-1. The macrophage-TNC interaction was found to be dynamic, with macrophages moving rapidly into and out of TNCs containing cytoplasmic thymocytes. Macrophages within TNCs showed a close association with cytoplasmic thymocytes. We then labeled peritoneal macrophages with CFDA SE, a cell tracking dye, and returned them to the mouse peritoneum. Within 1 h, labeled macrophages were detectable in the thymus. This is the first investigation to show a direct interaction between peripheral macrophages and TNCs. These results suggest that TNCs and macrophages work together as antigen-presenting cells.

Animals↗

Functional properties of a truncated recombinant GIRK5 potassium channel.

Xenopus laevis oocytes codify a G-protein-activated inward rectifier potassium channel (GIRK5 or Kir3.5). Coinjection of other GIRKs, the muscarinic m2 receptor, or Gbetagamma protein cRNAs is required to observe functional GIRKx-GIRK5 heteromultimers in oocytes. Studies with GIRK2 isoforms have shown that the size of the amino or carboxyl terminus plays a crucial role on giving functional K(+) channels. In this work we studied the properties of a GIRK5 with 25 amino acids deleted toward its amino-terminal domain. Injection of GIRK5-Delta25 cRNA alone displayed large basal and transient inward rectifying currents in oocytes. The instantaneous currents reached a stationary level after a long duration voltage pulse (10 s). For this relaxation, fast (tau(1)) and slow (tau(2)) time constants were estimated at different voltages. Recovery from inactivation followed a monoexponential function (tau=0.95+/-0.07 s). By contrast with other inward rectifier channels, blockade of GIRK5-Delta25 by extracellular Ba(2+) was voltage-independent (K(d)=102+/-2 microM), suggesting the presence of a Ba(2+) site at the external channel vestibule. To confirm this hypothesis, the Ba(2+) sensitivity of two charged mutants GIRK5-Delta25(N129E) and GIRK5-Delta25(K157E) at each of the external loops was determined. GIRK5-Delta25(N129E) and GIRK5-Delta25(K157E) showed a 100-fold and 2-fold higher affinity to Ba(2+), respectively, supporting the existence of this Ba(2+) binding site.

Animals↗

Compliance, satisfaction, and quality of life of patients with colorectal cancer receiving home chemotherapy or outpatient treatment: a randomised controlled trial.

OBJECTIVE: To compare chemotherapy given at home with outpatient treatment in terms of colorectal cancer patients' safety, compliance, use of health services, quality of life, and satisfaction with treatment. DESIGN: Randomised controlled trial. SETTING: Large teaching hospital. PARTICIPANTS: 87 patients receiving adjuvant or palliative chemotherapy for colorectal cancer. INTERVENTIONS: Treatment with fluorouracil (with or without folinic acid or levamisole) at outpatient clinic or at home. MAIN OUTCOME MEASURES: Treatment toxicity; patients' compliance with treatment, quality of life, satisfaction with care, and use of health resources. RESULTS: 42 patients were treated at outpatient clinic and 45 at home. The two groups were balanced in terms of age, sex, site of cancer, and disease stage. Treatment related toxicity was similar in the two groups (difference 7% (95% confidence interval -12% to 26%)), but there were more voluntary withdrawals from treatment in the outpatient group than in the home group (14% v 2%, difference 12% (1% to 24%)). There were no differences between groups in terms of quality of life scores during and after treatment. Levels of patient satisfaction were higher in the home treatment group, specifically with regard to information received and nursing care. There were no significant differences in use of health services. CONCLUSIONS: Home chemotherapy seemed an acceptable and safe alternative to hospital treatment for patients with colorectal cancer that may improve compliance and satisfaction with treatment.

Ambulatory Care↗

Detection of parent-of-origin effects for atopy by model-free and model-based linkage analyses.

Parent-of-origin effects for atopy were investigated by a model-free affected sib-pair (ASP) method and two model-based approaches in the Busselton nuclear families. Among the regions showing potential linkages to atopy by the ASP method, a significant excess of paternal allele sharing as compared with maternal allele sharing was observed for a cluster of three markers on chromosome 13. The two model-based methods, which specify either sex-specific recombination rates or different penetrances for heterozygotes according to the parental origin of disease allele (imprinting), led to the same results, both suggesting a paternal effect. Thus, these two ways of modelling parent-of-origin effects appear equivalent in nuclear family data. Further simulations are needed to investigate whether the mechanisms underlying parent-of-origin effects can be distinguished in larger pedigree structures.

Adult↗

Comparison of likelihood approaches for combined segregation and linkage analysis of a complex disease and a candidate gene marker under different ascertainment schemes.

We compared two joint likelihood approaches, with complete (L1) or without (L2) linkage disequilibrium, under different ascertainment schemes, for the genetic analysis of the disease trait and marker gene 1 in replicate 42. Joint likelihoods were computed without a correction for the selection scheme. For the different sampling schemes we have explored, our results suggest that L1 is a more powerful approach than L2 to detect major gene and covariate effects as well as to identify accurately gene x covariate interaction effects in a common and complex disease such as the Genetic Analysis Workshop 12 MG6 simulated trait.

Adult↗

Video thoracoscopy expedites the diagnosis and treatment of penetrating diaphragmatic injuries.

BACKGROUND: The diagnostic workup in stable patients with penetrating thoracoabdominal injuries can be extremely difficult. Conventional diagnostic tests such as plain chest radiography, computed tomography scan, digital exploration, and diagnostic peritoneal lavage can be misleading. Classically, most of these patients have undergone exploratory laparotomy to determine whether there is a diaphragmatic injury. METHODS: In this study, 52 patients with penetrating thoracoabdominal trauma, and without any indication for immediate surgery, underwent video-assisted thoracoscopy to determine the presence of diaphragmatic injuries. RESULTS: Of the 52 patients, 48 were men. The left hemithorax was involved in 38 patients (73%). Chest x-ray was normal in 40 patients (77%) who were clinically asymptomatic. Stab wounds were responsible for 80% of the injuries. At the time of the thoracoscopy, 35 patients (67%) were found to have a diaphragmatic injury. All 35 diaphragmatic injuries were successfully repaired thoracoscopically. The procedure was completed in 50 patients (96%). There were no deaths or complications. CONCLUSIONS: The incidence of diaphragmatic injuries is higher than anticipated in asymptomatic patients with penetrating thoracoabdominal wounds. Video thoracoscopy can be used as a safe, expeditious, minimally invasive, and extremely useful technique to facilitate the diagnosis of these injuries in asymptomatic patients. Furthermore, diaphragmatic injuries can be repaired easily through a thoracoscopic approach with no complications.

Abdominal Injuries↗

Clinical evaluation of twice-daily emedastine 0.05% eye drops (Emadine eye drops) versus levocabastine 0.05% eye drops in patients with allergic conjunctivitis.

PURPOSE: The efficacy and safety of emedastine 0.05% eye drops (Emadine; Alcon Laboratories, Inc, Fort Worth, Texas), a new H(1) antagonist, were studied in comparison to levocabastine 0.05% eye drops (Livostin; Janssen-Cilag N V, Berchem, Belgium) during a twice-daily treatment schedule for 6 weeks in adult and pediatric patients with seasonal allergic conjunctivitis. METHODS: In a prospective, multicenter, randomized, double-masked, parallel group study, 222 patients with allergic conjunctivitis were randomized (221 received treatment) to either emedastine or levocabastine, instilled twice daily for 6 weeks. Patient diaries were completed four times daily (before the morning and evening instillations, at noon, and in the afternoon), and clinical examinations were conducted at regular intervals. Primary efficacy variables of ocular redness and itching and secondary efficacy variables of chemosis, eyelid swelling, patient diary data, and physician's global assessment were analyzed. RESULTS: Both emedastine and levocabastine produced a statistically significant (P =.0001) reduction in itching and redness within 5 minutes of the first instillation. All signs and symptoms improved progressively over the 6-week treatment period. After 7 days of use, and throughout the remainder of the study, emedastine was statistically superior to levocabastine (P <.006) in preventing and alleviating the signs and symptoms (itching, redness, chemosis, and eyelid swelling) of allergic conjunctivitis. CONCLUSIONS: Emedastine 0.05% eye drops administered twice daily are more efficacious than levocabastine 0.05% eye drops in the prevention and treatment of the signs and symptoms of allergic conjunctivitis in adults and children of 4 years and above. Both emedastine 0.05% eye drops and levocabastine 0.05% eye drops were well tolerated.

Adolescent↗

Failure of one-day praziquantel treatment in patients with multiple neurocysticercosis lesions.

A recently described one-day regimen of praziquantel (PZQ) therapy for neurocysticercosis (NCC), three doses of 25 mg/k given at 2 h intervals, was applied in eight patients with viable NCC cysts without any evidence of inflammation. Resolution of lesions in computed tomography (CT) was observed in all five patients with a single cyst, whereas all cysts survived in three patients with multiple brain parasites. One-day praziquantel is a good regimen for patients with a single viable brain cysticercus but is poorly effective for multiple cysts.

Adult↗

An analytical model for the SO2- centre, ESR signal at g = 2.0057 in carbonates.

Detailed experiments were conducted to test the behaviour of the ESR signal at the g-value of 2.0057 in corals after irradiation and heating. On the basis of the results an analytical model for this signal was developed. We assume the existence of a precursor to the SO2- radical. On irradiation traps are produced, some in the precursor state and some in the radical state. Heating then causes transfer of electrons into the precursor state, from the precursor state into the radical state and out of the radical state into a base state. On the base of this model, we suggest that the signal at g = 2.0057 can be applied for dating. Our first dating attempts on corals delivered promising results for the suggested procedure.

Animals↗

Effect of acid secretion blockade by omeprazole on the relative bioavailability of orally administered furazolidone in healthy volunteers.

AIMS: The administration of omeprazole may interfere with the absorption of orally administered drugs by reducing gastric pH and hence tablet dissolution. The aim of this study was to investigate the effects of a 5 day administration of omeprazole on the pharmacokinetics of furazolidone. METHODS: Eighteen healthy (nine male and nine female) volunteers were selected. The study had an open randomized two-period crossover design with a 21 day washout period between the phases. Serum concentrations of furazolidone were measured by reversed-phase h.p.l.c. with ultraviolet detection. RESULTS: Administration of omeprazole caused a significant reduction of Cmax [0.34 microg x ml(-1) (range 0.25-0.43) vs 0.24 microg x ml(-1) (range 0.15-0.34)] with no significant delay in absorption tmax [2.5 h (range 1.85-3.0) vs 2.4 h (range 2.06-2.71)]. CONCLUSIONS: Furazolidone was rapidly absorbed after oral administration. Short-term treatment with omeprazole did alter the relative bioavailability of this drug, probably through an effect on absorption kinetics or first-pass metabolism.

Administration, Oral↗

Structure and ultrastructure of the ventral prostate of isogenic mice (C57B1/6J) submitted to chronic alcohol ingestion.

Morphological and functional alterations caused by chronic alcohol ingestion in testes and accessory sex organs have been studied both in man and in laboratory animals. The aim of the present study was to examine the possible occurrence of deleterious effects of chronic alcohol ingestion on the secretory epithelium of the ventral prostate of mice. Twenty-four adult male C57BL/6J mice were divided into three groups. The alcohol-treated group was allowed to drink only 6% (v/v) ethanol, the isocaloric group received a diet of water/sucrose with a calorie content equivalent to a 6% alcohol solution and the control group received water. Both groups were fed ad libitum with solid Purina rat chow. After 120 days, animals from each group were anesthetized with ethyl ether, weighed and processed for light and transmission electron microscopy. The results demonstrated reduction in the glandular epithelium cell height and disorganization of the Golgi complex. Moreover, abundant membrane-bound structures, most likely representing cytoplasmic material, were observed, as well as accumulation of dense bodies. Statistical analysis showed that bodyweight gain was similar for both groups. In conclusion, chronic alcohol ingestion has harmful effects on the secretory epithelium cells of the ventral lobe of the prostate of mice after 120 days of treatment.

Alcoholism↗

Questionable thymic nurse cell.

Since their discovery in 1980, thymic nurse cells (TNCs) have been controversial. Questions pertaining to the existence of the TNC as a "unit" cell with thymocytes completely enclosed within its cytoplasm were the focus of initial debates. Early skeptics proposed the multicellular complex to be an artifact of the procedures used to isolate TNCs from the thymus. Since that time, TNCs have been found in fish, frogs, tadpoles, chickens, sheep, pigs, rats, mice, and humans. Their evolutionary conservation throughout the animal kingdom relieved most speculations about the existence of TNCs and at the same time demonstrated their apparent importance to the thymus and T-cell development. In this review we will discuss and debate reports that describe (i) the organization or structure of TNCs, (ii) the thymocyte subset(s) found within the cytoplasm of TNCs and their uptake and release, and (iii) the function of this fascinating multicellular interaction that occurs during the process of T-cell development. Discussions about the future of the field and experimental approaches that will lead to answers to remaining questions are also presented.

Animals↗

Clinical and immunogenetic characteristics of European multicase rheumatoid arthritis families.

OBJECTIVE: To describe the characteristics of a new set of European families with affected sib pairs (ASP) collected by the European Consortium on Rheumatoid Arthritis Families (ECRAF) to replicate the results of our first genome scan. Potential gradients for disease severity in Europe and concordance within families were studied. PATIENTS AND METHODS: From 1996 to 1998 European white families with at least two affected siblings were enrolled in the study. Demographic (sex, age at onset), clinical data (rheumatoid factor (RF), disease duration, erosive disease, extra-articular features (EF)), and HLA-DRB1 oligotyping were analysed. RESULTS: 565 patients with rheumatoid arthritis (RA), belonging to 271 families including 319 affected sib pairs (ASP) were collected. Belgium, France, Italy, the Netherlands, Portugal, and Spain contributed 20, 96, 52, 24, 9, and 70 families, respectively. Sex (78% women), age at onset (mean 44 years), and RF positivity (79%) were similar among the countries. Differences were found in disease duration (11-18 years) and in the prevalence of erosive disease (70-93%), nodules (15-44%), subjective Sjögren's syndrome (5-38%), and EF (3-16%) (p<0.05 in all cases). A total of 22% RA sibs were shared epitope (SE) negative, whereas 47% and 30% carried one and two SE alleles respectively. Carriage of SE differed widely among countries (p<0.0001): no SE alleles (6-36%), one allele (43-60%), and two alleles (20-39%). SE encoding alleles were mainly DRB1*04 in the Netherlands and Belgium, whereas SE carriage was less common and evenly distributed between DRB1*01, *04, and *10 in Mediterranean countries. No concordance within families was found either in age/calendar year of onset (intraclass correlation coefficient <0.50) or in clinical and radiological features (kappa<0.22). CONCLUSIONS: The differences in RA characteristics between European countries and within families underline the heterogeneity of the disease. No clear cut gradient of disease severity was seen in Europe.

Adult↗

Evidence of a cohort effect for age at onset of schizophrenia.

OBJECTIVE: The authors address whether a possible age-at-onset cohort effect may have introduced a bias into anticipation studies of schizophrenia. METHOD: A retrospective review of the medical records of all admissions for psychotic disorders (N=877) was conducted. All subjects with a confirmed DSM-IV diagnosis of schizophrenia and age-at-onset data were included (N=419). For analyses, subjects were placed into one of three successive birth cohorts: 1905-1944 (N=96), 1945-1964 (N=200), and 1965-1984 (N=123). RESULTS: The mean age at first appearance of psychotic symptoms and, similarly, the mean age at first hospitalization significantly decreased over time in successive birth cohorts (25.3, 23.3, and 20.4 years, respectively, for age at first appearance of psychotic symptoms). CONCLUSIONS: This potential birth cohort effect for age at onset of schizophrenia needs to be incorporated into genetic models.

Adult↗

Perfusion-modulated MR imaging-guided radiofrequency ablation of the kidney in a porcine model.

OBJECTIVE: This study was performed to test the hypothesis that temporary renal ischemia will result in increased thermal lesion size during radiofrequency thermal ablation in the kidney. MATERIALS AND METHODS: Twelve kidneys were treated in six pigs that were placed under general anesthesia in the MR suite, using a 0.2-T open C-shaped MR imaging system. A 4-cm-long, 14-mm-diameter balloon catheter was placed into the aorta using a transfemoral approach, and the balloon was positioned proximal to the renal arteries via guidance with MR imaging. A 2-cm exposed-tip MR-compatible 17-gauge radiofrequency electrode was placed into one kidney under MR fluoroscopy using fast imaging with steady-state free precession (FISP) sequences. Thermal ablation was performed with the electrode tip temperature maintained at 90 +/- 2 degrees C for 10 min. This procedure was repeated in the contralateral kidney. The balloon was inflated during one ablation. Postablation images were obtained, the pigs were sacrificed, and both kidneys of each animal were harvested for pathologic correlation. RESULTS: Technical success was achieved in all animals. The lesion measured 14.2 +/- 2.2 mm (mean +/- standard deviation) for the ischemic kidney versus 8.0 +/- 2.6 mm in the normally perfused kidney (p = 0.00002). No significant complications were noted. In all images, thermal lesions displayed low signal intensity with a sharp rim of high signal intensity best visualized using short tau inversion recovery (STIR) sequences with a mean accuracy of 1.3 +/- 1.2 mm when compared with pathologic findings and a mean contrast-to-noise ratio of 4.9 +/- 2.5. CONCLUSION: We accept the hypothesis that temporary renal ischemia leads to a significantly increased radiofrequency ablation lesion size. We conclude that catheter-based balloon perfusion reduction is feasible, that the procedure does not lead to major complications, and that it can be performed using MR imaging as the sole imaging modality.

Animals↗

Noninherited maternal antigens do not increase the susceptibility for familial rheumatoid arthritis. European Consortium on Rheumatoid Arthritis Families (ECRAF).

OBJECTIVE: It has been proposed that noninherited maternal HLA-DR antigens (NIMA) might play a role in the susceptibility for rheumatoid arthritis (RA). This hypothesis has not been thoroughly tested in patients with familial RA, in whom genetic factors, either inherited or not, might have stronger influence than in patients with sporadic RA. We investigated the NIMA hypothesis in a large cohort of European patients with familial RA. METHODS: The distribution of NIMA, noninherited paternal antigens (NIPA), and inherited HLA-DR antigens was assessed in patients with familial RA from all family sets collected from 1996 onwards by the ECRAF. HLA-DRB1 oligotyping from patients and all available nonaffected siblings and parents was carried out. Familial RA was defined by the presence of at least 2 affected first-degree relatives in the same family. The frequencies of HLA-DR NIMA and NIPA were compared using odds ratios after stratification for HLA-DR*04, *0401, and/or *0404 and shared epitope (SE) status. NIMA/NIPA that coincided with inherited parental HLA-DR antigens were considered redundant and were excluded from analysis. RESULTS: NIMA and NIPA could be analyzed in 165 RA patients with familial RA and 84 nonaffected siblings. Patients were predominantly female, rheumatoid factor positive, and had erosive disease (81, 75, and 84%, respectively). Possession of HLA-DR*04 and *0401/*0404 alleles tended be more frequent in patients than in nonaffected siblings but this did not reach statistical significance. SE possession was similar in patients and healthy siblings, although the former had a double dose SE more often (37.6 vs 17.8%; p = 0.002). Transmission of SE encoding alleles from parents to offspring was skewed only in patients [OR (95% CI) 3.56 (2.55-4.95) vs 1.16 (0.75-1.79) in nonaffected siblings]. Using the NIPA as control, the frequencies of HLA-DRB1*04, *0401/*0404, and SE positive NIMA were not increased in patients lacking these susceptibility alleles. The frequencies of NIMA encoding susceptibility alleles in DR*04 and *0401/*0404 negative patients were lower than in nonaffected siblings. CONCLUSION: Our results corroborate the association between RA and inherited SE alleles and do not support a role for noninherited HLA-DR maternal antigens in the susceptibility for familial RA.

Adult↗