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2.
Opt Lett ; 41(19): 4597-4600, 2016 Oct 01.
Article in English | MEDLINE | ID: mdl-27749890

ABSTRACT

A novel method of ultrafast rotation of a ring-shaped optical lattice in the picosecond time region was proposed and demonstrated. Our ring-lattice generator was assembled by a pair of linearly chirped pulses with a time delay, a high-order birefringent retarder, and an axially symmetric polarization element. Using a mode-locked Ti:sapphire laser oscillator as a light source, stable two-, four-, and six-petaled ring-lattice rotations were demonstrated with the rotation periods of 1.6, 3.2, and 4.8 ps, respectively. Our method has the potential to open up a new technique to resonantly excite propagating quasi-particles together with their coherent enhancement.

3.
Case Rep Dent ; 2016: 1839793, 2016.
Article in English | MEDLINE | ID: mdl-28070427

ABSTRACT

When a definitive aesthetic treatment is determined, it is crucial to grant the patient's wish with the necessary dental treatment. Thus, conservative treatments that are the solution to aesthetic problems involving morphologic modifications and provide the result that the patient expects should always be the first therapeutic option. In this context, ceramic laminate veneers, also known as "contact lens," are capable of providing an extremely faithful reproduction of the natural teeth with great color stability and periodontal biocompatibility. Minimal or no preparation veneers are heavily advertised as the answer to our patients' cosmetic needs, which they can be if they are used correctly in the appropriate case. This report is about ultraconservative restorations to achieve functional and aesthetic rehabilitation through treatment planning. Thus, clinicians should be aware that the preparation for laminate veneers remains within enamel, to ensure the bond strength and avoid or minimize the occurrence of postoperative sensitivity.

4.
J Comp Pathol ; 151(1): 10-8, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24680979

ABSTRACT

The aim of the present study was to characterize canine classical seminoma (SE) and spermatocytic seminoma (SS) by immunohistochemical expression of gonocytic and spermatogonial cellular markers (c-Kit, placental alkaline phosphatase [PLAP], protein gene product 9.5 [PGP9.5] and Sal-like protein 4 [Sall4]) and histochemically by the periodic acid-Schiff (PAS) reaction. Twenty-five cases of SE and 23 cases of SS were investigated. Two cases of dysgerminoma were also examined. c-Kit was expressed on the cell membrane of 13 of 25 cases of SE (52%) and four of 23 cases of SS (16%). This marker was not expressed in dysgerminoma. PLAP immunoreactivity was observed in the cytoplasm of neoplastic cells of six of 25 cases of SE (24%). PLAP was not expressed in cases of SS and dysgerminoma. All samples of SE, SS and dysgerminoma showed cytoplasmic expression of PGP9.5 and nuclear immunoreactivity for Sall4. There was fine granular cytoplasmic PAS staining in neoplastic cells in five of 25 cases of SE (20%), while all samples of SS and dysgerminoma cases were PAS negative. These findings suggest that it is not possible to differentiate canine SE and SS using these markers. This may be because canine SS may be derived from spermatogonia that can differentiate to spermatocytes and also because cases of canine SE might consist of neoplastic cells that have lost their gonocytic nature. This study was the first to show positive immunoreactivity for Sall4 in canine seminomas and dysgerminomas and expression of PGP9.5 in canine dysgerminomas.


Subject(s)
Dog Diseases/metabolism , Dysgerminoma/veterinary , Seminoma/veterinary , Testicular Neoplasms/veterinary , Transcription Factors/biosynthesis , Ubiquitin Thiolesterase/biosynthesis , Animals , Biomarkers, Tumor/metabolism , Dogs , Dysgerminoma/metabolism , Immunohistochemistry , Male , Seminoma/metabolism , Testicular Neoplasms/metabolism
5.
Tissue Antigens ; 81(6): 428-34, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23574628

ABSTRACT

Cancer/testis (CT) antigens encoded by CT genes are immunogenic antigens, and the expression of CT gene is strictly restricted to only the testis among mature organs. Therefore, CT antigens are promising candidates for cancer immunotherapy. In a previous study, we identified a novel CT antigen, DNAJB8. DNAJB8 was found to be preferentially expressed in cancer stem-like cells (CSCs)/cancer-initiating cells (CICs), and it is thus a novel CSC antigen. In this study, we hypothesized that CT genes are preferentially expressed in CSCs/CICs rather than in non-CSCs/-CICs and we examined the expression of CT genes in CSCs/CICs. The expression of 74 CT genes was evaluated in side population (SP) cells (=CSC) and main population (MP) cells (=non-CSC) derived from LHK2 lung adenocarcinoma cells, SW480 colon adenocarcinoma cells and MCF7 breast adenocarcinoma cells by RT-PCR and real-time PCR. Eighteen genes (MAGEA2, MAGEA3, MAGEA4, MAGEA6, MAGEA12, MAGEB2, GAGE1, GAGE8, SPANXA1, SPANXB1, SPANXC, XAGE2, SPA17, BORIS, PLU-1, SGY-1, TEX15 and CT45A1) showed higher expression levels in SP cells than in MP cells, whereas 10 genes (BAGE1, BAGE2, BAGE4, BAGE5, XAGE1, LIP1, D40, HCA661, TDRD1 and TPTE) showed similar expression levels in SP cells and MP cells. Thus, considerable numbers of CT genes showed preferential expression in CSCs/CICs. We therefore propose a novel sub-category of CT genes in this report: cancer/testis/stem (CTS) genes.


Subject(s)
Antigens, Neoplasm/genetics , Gene Expression , Neoplastic Stem Cells/immunology , Testis/immunology , Cell Differentiation , Cell Line, Tumor , Cell Transformation, Neoplastic/genetics , Gene Expression Regulation, Developmental , Humans , MCF-7 Cells , Male , Real-Time Polymerase Chain Reaction , Spermatogenesis/genetics
6.
J Comp Pathol ; 149(2-3): 199-207, 2013.
Article in English | MEDLINE | ID: mdl-23582973

ABSTRACT

Histological features and expression of neuroendocrine markers were examined in 69 samples of canine anal sac glandular carcinomas (ASGCs). The tumours were classified into solid, rosette and tubular types and mixtures of these types. Tumour-associated death in dogs with solid tumours and mixed tumours with solid components was higher than in dogs with rosette and tubular type tumours. Chromogranin A immunoreactivity was observed in 28 of 69 samples (40.6%) irrespective of histological type and was localized to the marginal areas of the tumour nest and the basal areas of the tubular and rosette structures. Neuron-specific enolase immunoreactivity in neoplastic epithelial cells was observed in 32 cases (46.4%) and was less frequently observed in the tubular type (14.3%). Synaptophysin expression was present in 15.9% of cases and was least frequent in the tubular type. Twenty-one of the 69 samples expressed more than two neuroendocrine markers and were classified as carcinomas with neuroendocrine differentiation. There was no relationship between neuroendocrine differentiation and clinical outcome. These results suggest that some ASGCs have neuroendocrine differentiation regardless of histological pattern, but clinical outcome is more related to the histological pattern than to neuroendocrine differentiation.


Subject(s)
Anal Gland Neoplasms/pathology , Anal Sacs/pathology , Carcinoma/veterinary , Dog Diseases/pathology , Anal Gland Neoplasms/metabolism , Anal Sacs/metabolism , Animals , Biomarkers, Tumor/analysis , Carcinoma/metabolism , Carcinoma/pathology , Cell Differentiation , Dog Diseases/metabolism , Dogs , Female , Immunohistochemistry , Male
7.
J Comp Pathol ; 149(2-3): 172-81, 2013.
Article in English | MEDLINE | ID: mdl-23489680

ABSTRACT

The aim of this study was to characterize immunohistochemically 18 cases of canine haemangiopericytoma (CHP) using two new candidate markers for pericytes, tumour endothelial marker (TEM)-1 and new glue (NG)-2, as well as the conventional mesenchymal cellular markers, vimentin, α-smooth muscle actin (α-SMA), desmin and von Willebrand factor (vWF). Because pericytes may have the same origin as endothelial or smooth muscle cells or the same differentiation potential as myofibroblasts, 17 cases of leiomyosarcoma (LMS), 20 cases of haemangiosarcoma (HS) and three cases of myofibroblastic sarcoma (MFS) were also examined. Expression of TEM-1 by >10% of the neoplastic population was observed in 94.4% (17/18) of haemangiopericytomas, 23.5% (4/17) of LMSs, 30.0% (6/20) of HSs and 66.7% (2/3) of MFSs. NG-2 expression by >10% of the neoplastic population was observed in 16.7% (3/18) of haemangiopericytomas, 52.9% (9/17) of LMSs, 0% (0/20) of HSs and 33.3% (1/3) of MFSs. Vimentin was expressed by all of tumours. In haemangiopericytoma, the incidence of positive immunoreactivity in >10% of the neoplastic population was 5.6% (1/18) for both α-SMA and desmin and 0% (0/18) for vWF. Considering the phenotypic features of cells expressing TEM-1, CHPs are thought to originate from immature vascular mural cells sharing their phenotype with myofibroblasts. NG-2 expression may be a phenotype of smooth muscle cells rather than pericytes in dogs.


Subject(s)
Biomarkers, Tumor/analysis , Dog Diseases/metabolism , Hemangiopericytoma/veterinary , Animals , Dogs , Female , Hemangiopericytoma/metabolism , Immunohistochemistry , Male , Neoplasm Proteins/analysis , Neoplasm Proteins/biosynthesis
8.
Opt Express ; 18(17): 17796-804, 2010 Aug 16.
Article in English | MEDLINE | ID: mdl-20721167

ABSTRACT

We study the dynamics of a paired optical vortex (OV) generated by second-harmonic generation (SHG) using sub-picosecond pulses. By changing the position of a thin nonlinear crystal along the propagation direction, we observe a rotation of two vortices with changing separation distance. The dynamics is well explained by SHG with a beam walk-off, which introduces a contamination of zero-order Laguerre-Gaussian beam (LG(0)) together with topological charge doubling. The quantitative analysis indicates that the rotation angle of the OVs manifests the Gouy phase while the splitting provides the walk-off angle of the crystal. We also show that the subtraction of LG(0) is realized by the superposition of LG(0) with an anti-balanced phase in the pump.


Subject(s)
Barium/chemistry , Borates/chemistry , Crystallography/methods , Optics and Photonics/methods , Models, Theoretical , Nonlinear Dynamics
9.
Opt Express ; 17(22): 20567-74, 2009 Oct 26.
Article in English | MEDLINE | ID: mdl-19997285

ABSTRACT

We demonstrate the coherent transfer of optical orbital angular momentum (OAM) to the center of mass momentum of excitons in semiconductor GaN using a four-wave mixing (FWM) process. When we apply the optical vortex (OV) as an excitation pulse, the diffracted FWM signal exhibits phase singularities that satisfy the OAM conservation law, which remain clear within the exciton dephasing time (approximately 1ps). We also demonstrate the arbitrary control of the topological charge in the output signal by changing the OAM of the input pulse. The results provide a way of controlling the optical OAM through carriers in solids. Moreover, the time evolution of the FWM with OAM leads to the study of the closed-loop carrier coherence in materials.


Subject(s)
Gallium/chemistry , Models, Chemical , Computer Simulation , Light , Scattering, Radiation
11.
Br J Dermatol ; 158(2): 313-8, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18028492

ABSTRACT

BACKGROUND: Extramammary Paget's disease (EMPD) is a rare cutaneous carcinoma usually presenting as a genital erythematous lesion in the elderly. Although most EMPD tumours are in situ, invasive EMPD has a poor prognosis. OBJECTIVE: To evaluate the clinical and pathological features of EMPD and determine prognostic factors for survival. METHODS: The medical records of 76 patients with EMPD were retrospectively reviewed. RESULTS: Of the 66 patients who underwent curative surgical excision, five (8%) developed local recurrence, but surgical margin (2 cm) was not correlated with local recurrence. Thirteen of the 76 patients (17%) developed systemic metastases and 10 of these died of disease. On univariate analysis, the presence of nodules in the primary tumour, clinical lymph node swelling, elevated serum carcinoembryonic antigen (CEA) levels, tumour invasion level and lymph node metastasis were significant prognostic factors. On multivariate analysis, invasion level and elevated serum CEA were the only factors that were significantly associated with reduced survival. CONCLUSIONS: Invasion level and lymph node metastasis are important prognostic factors in EMPD. In patients with in situ tumour, local tumour control is the major aim of treatment; however, wide surgical margins are not associated with a lower risk of local recurrence.


Subject(s)
Genital Neoplasms, Female , Genital Neoplasms, Male , Paget Disease, Extramammary , Skin Neoplasms , Aged , Aged, 80 and over , Carcinoembryonic Antigen/blood , Female , Genital Neoplasms, Female/diagnosis , Genital Neoplasms, Female/pathology , Genital Neoplasms, Female/therapy , Genital Neoplasms, Male/diagnosis , Genital Neoplasms, Male/pathology , Genital Neoplasms, Male/therapy , Humans , Japan , Male , Middle Aged , Paget Disease, Extramammary/diagnosis , Paget Disease, Extramammary/pathology , Paget Disease, Extramammary/therapy , Prognosis , Retrospective Studies , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Skin Neoplasms/therapy , Survival Analysis , Treatment Outcome
12.
São Paulo; s.n; 2008. 1 p.
Non-conventional in Portuguese | Coleciona SUS, HSPM-Producao, Sec. Munic. Saúde SP, Sec. Munic. Saúde SP | ID: biblio-936839

ABSTRACT

A paralisia supranuclear progressiva é uma doença rara com predomínio no sexo masculino descrita entre as patologias conhecidas como parkinsonismo atípico. Y.O.N, 66 anos, branca, feminina, brasileira, residente em São Paulo, nível superior, enfermeira aposentada. Queixava-se de disfonia associada à perda de peso progressiva, dificuldade em iniciar movimentos, lentificação, rigidez, apatia, desmotivação, tonturas e quedas freqüentes há aproximadamente 3 anos. Neste período, refere piora progressiva da marcha. Há 1 ano apresentou queda com luxação de ombro direito sendo submetida a procedimento cirúrgico. No último ano iniciou com quadro de distúrbio comportamental, irritabilidade, desinibição e agressividade. Negava comorbidades prévias. Ao exame físico geral apresentava-se emagrecida, com hiperextensão de tronco e coluna cervical, alteração da marcha com necessidade de auxílio, fáscies de espanto, disartria, perda do olhar vertical para baixo. Força muscular diminuida +/5+ em membros inferiores com atrofia muscular, rigidez, sem tremores de extremidade. MEEM 28/30 FV 8/minuto, Teste do relógio 0. À ressonância magnética apresentou sinais de dilataçãodo sistema ventricular, alargamento dos sulcos corticais, cisternas basais e sylvianas, raras zonas de alteração da intensidade de sinal localizada na substância branca periventricular compatíveis com áreas de glicose. O quadro clínico e a perda do olhar conjugado vertical para baixo sugeriram uma hipótese diagnóstica de possível paralisia supranuclear progressiva. O relato de caso demonstra a dificuldade do diagnóstico de pacientes que apresentam déficit cognitivo, alteração de comportamento e alterações neurológicas e um alerta à comunidade científica da possibilidade desse diagnóstico


Subject(s)
Geriatrics , Parkinsonian Disorders , Parkinson Disease/diagnosis , Parkinson Disease/therapy
13.
São Paulo; s.n; 2008. 1 p.
Non-conventional in Portuguese | Sec. Munic. Saúde SP, HSPM-Producao, Sec. Munic. Saúde SP, Sec. Munic. Saúde SP | ID: sms-898

ABSTRACT

A paralisia supranuclear progressiva é uma doença rara com predomínio no sexo masculino descrita entre as patologias conhecidas como parkinsonismo atípico. Y.O.N, 66 anos, branca, feminina, brasileira, residente em São Paulo, nível superior, enfermeira aposentada. Queixava-se de disfonia associada à perda de peso progressiva, dificuldade em iniciar movimentos, lentificação, rigidez, apatia, desmotivação, tonturas e quedas freqüentes há aproximadamente 3 anos. Neste período, refere piora progressiva da marcha. Há 1 ano apresentou queda com luxação de ombro direito sendo submetida a procedimento cirúrgico. No último ano iniciou com quadro de distúrbio comportamental, irritabilidade, desinibição e agressividade. Negava comorbidades prévias. Ao exame físico geral apresentava-se emagrecida, com hiperextensão de tronco e coluna cervical, alteração da marcha com necessidade de auxílio, fáscies de espanto, disartria, perda do olhar vertical para baixo. Força muscular diminuida +/5+ em membros inferiores com atrofia muscular, rigidez, sem tremores de extremidade. MEEM 28/30 FV 8/minuto, Teste do relógio 0. À ressonância magnética apresentou sinais de dilataçãodo sistema ventricular, alargamento dos sulcos corticais, cisternas basais e sylvianas, raras zonas de alteração da intensidade de sinal localizada na substância branca periventricular compatíveis com áreas de glicose. O quadro clínico e a perda do olhar conjugado vertical para baixo sugeriram uma hipótese diagnóstica de possível paralisia supranuclear progressiva. O relato de caso demonstra a dificuldade do diagnóstico de pacientes que apresentam déficit cognitivo, alteração de comportamento e alterações neurológicas e um alerta à comunidade científica da possibilidade desse diagnóstico (AU)


Subject(s)
Parkinson Disease/diagnosis , Parkinson Disease/therapy , Parkinsonian Disorders , Geriatrics
14.
Kyobu Geka ; 58(13): 1169-72, 2005 Dec.
Article in Japanese | MEDLINE | ID: mdl-16359020

ABSTRACT

We report a rare case of mediastinal hemorrhage after pulmonary resection. A 64-year-old woman with hypersensitivity pneumonitis was diagnosed as adenocarcinoma of the lung by bronchoscopical examination. Left lower lobectomy and mediastinal lymph node dissection were performed. Sudden chest pain and dry cough developed 14 days after the operation. Her diastolic pressure rose transiently but electrocardiogram remained normal. Chest X-ray showed widening of the mediastinum and enhanced chest computed tomography (CT) showed extravasation of the contrast media just under the bifurcation of the trachea. Multi projection volume reconstruction revealed mediastinal hemorrhage from the bronchial artery. The chest pain disappeared after a successful bronchial artery embolization and the patient discharged 21 days later. Hemorrhage after pulmonary resection is a common complication, but no previous report has described mediastinal hemorrhage occurring 2 weeks after the operation. In a similar case, bronchial artery embolization is a reliable and minimally invasive therapy for mediastinal hemorrhage.


Subject(s)
Embolization, Therapeutic , Pneumonectomy , Postoperative Hemorrhage/etiology , Postoperative Hemorrhage/therapy , Adenocarcinoma/surgery , Bronchial Arteries , Female , Humans , Lung Neoplasms/surgery , Mediastinum , Middle Aged
16.
Opt Express ; 12(12): 2762-73, 2004 Jun 14.
Article in English | MEDLINE | ID: mdl-19475119

ABSTRACT

Using 3.6- and 5.3-fs pulses, we demonstrated theoretically and experimentally that fringe-resolved autocorrelation (FRAC) traces are distorted by bandwidth limitations of the second-harmonic generation (SHG) in 10-microm-thick, type I ss-BaB2O4 for pulses shorter than sub-5 fs. In addition, detailed numerical analysis of the SHG showed that the optimum crystal angle where the FRAC trace distortion becomes minimum is in disagreement not only with the phase-matching angle but also with the angle where the FRAC signal intensity becomes maximum. Furthermore, the apparent pulse duration measured at a nonoptimum angle was confirmed to become shorter than that of its transform-limited pulse, in excellent agreement with the calculated result.

17.
Osteoporos Int ; 14(3): 225-34, 2003 May.
Article in English | MEDLINE | ID: mdl-12730746

ABSTRACT

To determine the clinical recommended dosage regimen of risedronate for the treatment of involutional osteoporosis in Japanese patients, dose-response relationships for the efficacy and safety of this drug were investigated using a multi-center, randomized, double-blind, parallel group comparative design with four dose levels of risedronate (placebo, 1 mg, 2.5 mg and 5 mg per day). A total of 211 patients diagnosed with involutional osteoporosis according to the criteria proposed by the Japanese Society for Bone and Mineral Research were randomized and received one of the four doses once daily for 36 weeks. All patients were supplemented with 200 mg of calcium daily in the form of calcium lactate. The primary efficacy endpoint was the percent change in bone mineral density of the lumbar spine (L2-L4 BMD) determined by dual-energy X-ray absorptiometry (DXA) from baseline to the time of final evaluation. Changes in biochemical markers of bone turnover and safety profile were also compared. Percent changes in L2-L4 BMD at final evaluation in the placebo, and 1-, 2.5-, and 5-mg risedronate groups were 0.79+/-5.30, 2.71+/-4.93, 5.29+/-3.96, and 5.15+/-4.25% (mean+/-SD), respectively. A linear dose-response relationship was obtained up to a dose of 2.5 mg, whereas no further increase in BMD was observed at 5 mg. The decrease in bone turnover markers, including N-terminal osteocalcin, phosphorus, and urinary deoxypyridinoline, also showed a linear dose-response relationship up to a dose of 2.5 mg. Alkaline phosphatase level decreased linearly up to a dose of 5 mg. Risedronate was well tolerated in this 36-week study with 1- to 5-mg doses. Neither the overall incidence of adverse events nor the percentage of patients without problem in overall safety assessment differed significantly among the dose groups including the placebo group. Based on these results, a once-daily dose of 2.5 mg of risedronate, which is half that used in Caucasians, is recommended for the treatment of involutional osteoporosis in Japanese patients.


Subject(s)
Bone Density Conservation Agents/administration & dosage , Etidronic Acid/analogs & derivatives , Osteoporosis/drug therapy , Alkaline Phosphatase/blood , Amino Acids/urine , Biomarkers/blood , Biomarkers/urine , Bone Density/drug effects , Bone Density Conservation Agents/adverse effects , Calcium, Dietary/administration & dosage , Dose-Response Relationship, Drug , Double-Blind Method , Drug Administration Schedule , Etidronic Acid/administration & dosage , Etidronic Acid/adverse effects , Female , Humans , Lumbar Vertebrae , Male , Middle Aged , Osteocalcin/blood , Osteoporosis, Postmenopausal/drug therapy , Risedronic Acid , Treatment Outcome
18.
Osteoporos Int ; 13(12): 971-9, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12459940

ABSTRACT

To demonstrate the clinical benefit of 2.5 mg daily risedronate in the treatment of involutional osteoporosis, the effect of risedronate on bone mineral density (BMD) of the lumbar spine was compared with that of etidronate, selected as a representative of the bisphosphonates currently marketed in Japan. In this multicenter, randomized, double-masked, active (etidronate) controlled comparative study, a total of 235 Japanese patients with involutional osteoporosis were randomized to receive either treatment with 2.5 mg/day of risedronate for 48 weeks or intermittent treatment with etidronate (4 cycles of 2 weeks of treatment with 200 mg/day followed by 10-week medication-free periods). All patients received 200 mg of calcium supplement daily in the form of the calcium lactate. Bone mineral density of the lumbar spine (L2-L4 BMD) was determined at 12, 24, 36 and 48 weeks by dual-energy X-ray absorptiometry. The primary endpoint was the percent change in L2-L4 BMD from baseline to the time of final evaluation. Changes in biochemical markers of bone turnover and safety profiles were also compared. A significant increase in L2-L4 BMD was observed at 12 weeks after initiation of therapy in both the risedronate (2.8%) and etidronate (1.8%) groups. The increase in L2-L4 BMD at the time of final evaluation in the risedronate group (4.9%) was significantly greater ( p = 0.002) than that in the etidronate group (3.1%). The changes in bone resorption markers (urinary total deoxypyridinoline and N-terminal telopeptide of type I collagen) from baseline to 48 weeks were -37.6% and -41.3% for risedronate and -22.5% and -26.6% for etidronate, respectively. New vertebral fractures or deterioration of existing fractures were observed in 2.8% (3/106) of the patients in the etidronate group, while no such cases (0/101) were observed in the risedronate group. No significant difference in the incidence of adverse events was found between two treatments. Daily oral risedronate (2.5 mg) exhibited efficacy superior to that of intermittent cyclical etidronate (200 mg) in increasing L2-L4 BMD, and was well tolerated by Japanese patients with involutional osteoporosis.


Subject(s)
Bone Density/drug effects , Calcium Channel Blockers/therapeutic use , Etidronic Acid/analogs & derivatives , Etidronic Acid/therapeutic use , Osteoporosis/drug therapy , Adult , Aged , Biomarkers/analysis , Double-Blind Method , Female , Humans , Lumbar Vertebrae/drug effects , Lumbar Vertebrae/physiopathology , Male , Middle Aged , Osteoporosis/complications , Osteoporosis/physiopathology , Risedronic Acid , Spinal Fractures/etiology , Spinal Fractures/prevention & control
19.
Rev Neurol ; 35(1): 82-6, 2002.
Article in Spanish | MEDLINE | ID: mdl-12389199

ABSTRACT

Amongst idiopathic generalized epilepsies, juvenile myoclonic epilepsy (JME) is the most common, accounting for 12% to 30% of all epilepsies in the Western world. Classic JME consists of awakening myoclonias, grand mal convulsions and EEG 4 to 6 Hz polyspike waves that appear in adolescence. Probands and affected family members do not have pyknoleptic 3Hz spike and wave absences. However, in 10 to 30% of patients, rare or spanioleptic polyspike wave absences appear. In 1988,1995,1996,we mapped classic JME to a 7 cM locus in chromosome 6p12 11, called EJM1, using families from Los Angeles and Belize. In 2001,we studied one large family from Belize and 21 new families from Los Angeles and Mexico Cities, aided by a BAC/PAC based physical map and 6 new dinucleotide repeats, to narrow EJM1 to an interval between D6S272 and D6S1573. In 2002, we found myoclonin, the putative gene for typical JME in 6p12. At the congress, we will reveal the identity of the myoclonin gene, its putative function and discuss the significance of this discovery in the JME population at large.


Subject(s)
Chromosomes, Human, Pair 6 , Myoclonic Epilepsy, Juvenile/genetics , Belize , California , Electroencephalography , Genotype , Humans , Mexico , Myoclonic Epilepsy, Juvenile/diagnosis , Myoclonic Epilepsy, Juvenile/physiopathology , Phenotype
20.
Rev. neurol. (Ed. impr.) ; 35(1): 82-86, 1 jul., 2002.
Article in Es | IBECS | ID: ibc-22397

ABSTRACT

Entre las epilepsias generalizadas idiopáticas, la epilepsia mioclónica juvenil (EMJ) es la más frecuente y representa el 12-30 por ciento de todas las epilepsias del mundo occidental. La EMJ `clásica' consiste de mioclonía al despertar, crisis convulsivas de gran mal y electroencefalogramas (EEG) con polipunta-ondas de 4 a 6 Hz, que se presentan en la adolescencia. Los probandos y los miembros afectados de la familia no presentan ausencias punta-onda picnolépticas de 3 Hz. Sin embargo, el 10-30 por ciento de los pacientes presentan ausencias polipunta-onda escasas o raras. En 1988, 1995 y 1996 realizamos el mapeo genético de la EMJ `clásica' en un locus de 7 cM en el cromosoma 6p12-11, llamado EMJ1, mediante el empleo de familias de Los Ángeles y Belice. En 2001, estudiamos una familia numerosa de Belice y 21 familias nuevas de Los Ángeles y de Ciudad de México, con la ayuda de un mapa físico basado en recursos BAC/PAC y seis repeticiones dinucleotídicas, para reducir el cromosoma EMJ1 a un intervalo entre los marcadores D6S272 y D6S1573. En 2002, hallamos mioclonín, gen putativo de la EMJ típica en el cromosoma 6p12. En el congreso revelaremos la identidad del gen mioclonín, su función putativa y discutiremos la significación de este descubrimiento en la población con EMJ en general (AU)


Subject(s)
Humans , Chromosomes, Human, Pair 6 , Mexico , Phenotype , Myoclonic Epilepsy, Juvenile , Belize , California , Electroencephalography , Genotype
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