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1.
Nanotechnology ; 33(23)2022 Mar 17.
Artículo en Inglés | MEDLINE | ID: mdl-35213855

RESUMEN

A single crystal of SrTiO3doped with 0.5 wt% niobium (Nb-STO) was irradiated with 200 MeV Au32+ions at grazing incidence to characterize the irradiation-induced hillock chains. Exactly the same hillock chains are observed by using atomic force microscopy (AFM) and scanning electron microscopy (SEM) to study the relation between irradiation-induced change of surface topography and corresponding material property changes. As expected, multiple hillocks as high as 5-6 nm are imaged by AFM observation in tapping mode. It is also found that the regions in between the adjacent hillocks are not depressed, and in many cases they are slightly elevated. Line-like contrasts along the ion paths are found in both AFM phase images and SEM images, indicating the formation of continuous ion tracks in addition to multiple hillocks. Validity of preexisting models for explaining the hillock chain formation is discussed based on the present results. In order to obtain new insights related to the ion track formation, cross-sectional transmission electron microscopy (TEM) observation was performed. The ion tracks in the near-surface region are found to be relatively large, whereas buried ion tracks in the deeper region are relatively small. The results suggest that recrystallization plays an important role in the formation of small ion tracks in the deep region, whereas formation of large ion tracks in the near-surface region is likely due to the absence of recrystallization. TEM images also show shape deformation of ion tracks in the near-surface region, suggesting that material transport towards the surface is the reason for the absence of recrystallization.

2.
Nanotechnology ; 31(26): 265606, 2020 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-32155610

RESUMEN

We report the elongation of embedded Au nanoparticles (NPs) in three different matrices, i.e. amorphous carbon (a-C), crystalline indium tin oxide (InxSn1-xOz; ITO) and crystalline calcium fluoride (CaF2), under irradiations of 4 MeV C60 + cluster ions and 200 MeV Xe14+ ions. Under 4 MeV C60 cluster irradiation, strong sputtering is induced in CaF2 layer so that the whole the layer was completely lost at a fluence of 5 × 1013 ions cm-2. Au NPs were partly observed in the SiO2, probably due to the recoil implantation. Amorphous carbon (a-C) layer exhibits low sputtering loss even under 4 MeV C60 irradiation. However, the elongation in a-C layer was low. While the ITO layer showed a certain decrease in thickness under 4 MeV C60 irradiation, large elongation of Au NPs was observed under both 4 MeV C60 and 200 MeV Xe irradiation. The ITO layer preserved the crystallinity even after large elongation was induced. This is the first report of the elongation of metal NPs in a crystalline matrix.

3.
Anal Chem ; 91(3): 2042-2049, 2019 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-30592600

RESUMEN

We examine instrumental and methodological capabilities for microscale (10-50 µg of C) radiocarbon analysis of individual compounds in the context of paleoclimate and paleoceanography applications, for which relatively high-precision measurements are required. An extensive suite of data for 14C-free and modern reference materials processed using different methods and acquired using an elemental-analyzer-accelerator-mass-spectrometry (EA-AMS) instrumental setup at ETH Zurich was compiled to assess the reproducibility of specific isolation procedures. In order to determine the precision, accuracy, and reproducibility of measurements on processed compounds, we explore the results of both reference materials and three classes of compounds (fatty acids, alkenones, and amino acids) extracted from sediment samples. We utilize a MATLAB code developed to systematically evaluate constant-contamination-model parameters, which in turn can be applied to measurements of unknown process samples. This approach is computationally reliable and can be used for any blank assessment of small-size radiocarbon samples. Our results show that a conservative lower estimate of the sample sizes required to produce relatively high-precision 14C data (i.e., with acceptable errors of <5% on final 14C ages) and high reproducibility in old samples (i.e., F14C ≈ 0.1) using current isolation methods are 50 and 30 µg of C for alkenones and fatty acids, respectively. Moreover, when the F14C is >0.5, a precision of 2% can be achieved for alkenone and fatty acid samples containing ≥15 and 10 µg of C, respectively.

4.
Phys Chem Chem Phys ; 20(7): 4962-4969, 2018 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-29387834

RESUMEN

Cationic disorder in the MgAl2O4 spinel induced by swift heavy ions was investigated using the X-ray absorption near edge structure. With changes in the irradiation fluences of 200 MeV Xe ions, the Mg K-edge and Al K-edge spectra were synchronously changed. The calculated spectra based on density function theory indicate that the change in the experimental spectra was due to cationic disorder between Mg in tetrahedral sites and Al in octahedral sites. These results suggest a high inversion degree to an extent that the completely random configuration is achieved in MgAl2O4 induced by the high density electronic excitation under swift heavy ion irradiation.

5.
Cytopathology ; 29(3): 262-266, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29578263

RESUMEN

BACKGROUND: Telomeres are tandem repeats of TTAGGG at the end of eukaryotic chromosomes that play a key role in preventing chromosomal instability. The aim of the present study is to determine telomere length using fluorescence in situ hybridisation (FISH) on cytological specimens. METHODS: Aspiration samples (n = 41) were smeared on glass slides and used for FISH. RESULTS: Telomere signal intensity was significantly lower in positive cases (cases with malignancy, n = 25) as compared to negative cases (cases without malignancy, n = 16), and the same was observed for centromere intensity. The difference in DAPI intensity was not statistically significant. The ratio of telomere to centromere intensity did not show a significant difference between positive and negative cases. There was no statistical difference in the signal intensities of aspiration samples from ascites or pleural effusion (n = 23) and endoscopic ultrasound-guided FNA samples from the pancreas (n = 18). CONCLUSIONS: The present study revealed that telomere length can be used as an indicator to distinguish malignant and benign cells in cytological specimens. This novel approach may help improve diagnosis for cancer patients.


Asunto(s)
Telómero/genética , Ascitis/genética , Ascitis/patología , Inestabilidad Cromosómica/genética , Fluorescencia , Humanos , Hibridación Fluorescente in Situ/métodos , Páncreas/patología , Derrame Pleural/genética , Derrame Pleural/patología
6.
Nanotechnology ; 28(44): 445708, 2017 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-29016363

RESUMEN

In a previous study, we found that hillocks (i.e. surface ion tracks) can be imaged using transmission electron microscopy (TEM) by irradiating thin CeO2 samples with swift heavy ions (SHI) at oblique incidence. In the present study, the same TEM method is applied to Y3Fe5O12 (YIG) and three fluorides (CaF2, SrF2 and BaF2) for observing hillocks. For YIG, which is one of the amorphizable materials, hillocks are found to have amorphous features consistent with amorphous features of ion tracks. For the fluorides, it is found that the hillocks do not exhibit amorphous features, and they are composed of nanocrystallites. Although hillocks for YIG and CaF2 exhibit different crystallographic features, hillock diameter agrees with the molten region diameter predicted by the thermal spike model for both materials. It is found that for YIG the hillock diameter is comparable to the ion track diameter, whereas for the fluorides it is always larger than the ion track diameter. The present result shows the existence of the velocity effect for ion track diameter in CaF2. It is also found that for fluorides both hillock and ion track diameters vary in the order of cation mass (i.e. CaF2 < SrF2 < BaF2). The above results of hillocks and ion tracks for SHI-irradiated fluorides can be consistently interpreted within the framework of the thermal spike model, if melting and successive recrystallization are assumed.

7.
Water Sci Technol ; 75(9-10): 2149-2156, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28498127

RESUMEN

Accelerated release of potassium (K), magnesium (Mg) and phosphorus (P) from surplus activated sludge (SAS) was investigated to develop a new system for the recovery of the elements. Anaerobic cultivation of SAS during 24 h released 78% of K and about 50% of Mg and P from SAS more effectively compared to aerobic cultivation (K: 40%, Mg: 15%, P: 15%). Furthermore, the addition of sodium acetate as an organic carbon source remarkably accelerated the release of K, Mg and P from SAS under anaerobic condition. However, no increase in the maximum release efficiencies was observed. The elements released from SAS could be transferred to separate liquid with the existing mechanical thickener and be recovered as MgKPO4 by some additional process. Furthermore, the removal of the elements from SAS would inhibit the formation of struvite causing the blockage of sludge transport pipe after anaerobic digestion process of thickened sludge.


Asunto(s)
Magnesio/química , Fósforo/química , Potasio/química , Aguas del Alcantarillado/química , Estruvita/química , Eliminación de Residuos Líquidos/métodos , Anaerobiosis , Aguas Residuales
8.
Transpl Infect Dis ; 18(2): 234-9, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26919131

RESUMEN

BACKGROUND: Urinary tract infection caused by human adenovirus (HAdV) after renal transplantation (RT) results in graft loss because of concomitant nephropathy and acute rejection and may result in death because of systemic dissemination. METHODS: We assessed the time period between RT and disease onset, symptoms, treatment details, disease duration, renal graft function, outcomes, and complications. RESULTS: HAdV infection of the urinary tract occurred in 8 of 170 renal transplant recipients. Symptoms were macrohematuria in all 8 patients, dysuria in 7, and fever in 5. The median period from RT to disease onset was 367 (range, 7-1763) days, and the median disease duration was 15 (range, 8-42) days. The mean serum creatinine (sCr) level prior to onset was 1.35 ± 0.48 mg/dL and the mean maximum sCr level during disease was 2.34 ± 1.95 mg/dL. These values were increased by ≥25% in 5 patients. The mean sCr levels when symptoms resolved was 1.54 ± 0.67 mg/dL, and no significant difference was seen before, during, or after disease onset (P = 0.069). Two patients were diagnosed with HAdV viremia and 1 with acute tubulointerstitial nephritis revealed on biopsy. In addition to a reduction in immunosuppressant dosage, 2 patients received gammaglobulins and 5 received ganciclovir. CONCLUSION: Symptoms of all patients were alleviated, although some patients developed nephritis or viremia. Hence, the possibility of exacerbation should always be considered. Adequate follow-up observation should be conducted, and diligent and aggressive therapeutic intervention is required to prevent the condition from worsening.


Asunto(s)
Infecciones por Adenovirus Humanos/complicaciones , Infecciones por Adenovirus Humanos/virología , Adenovirus Humanos/aislamiento & purificación , Rechazo de Injerto , Trasplante de Riñón/efectos adversos , Infecciones Urinarias/virología , Adulto , Antivirales/administración & dosificación , Antivirales/uso terapéutico , Femenino , Ganciclovir/administración & dosificación , Ganciclovir/uso terapéutico , Humanos , Huésped Inmunocomprometido , Inmunoglobulinas Intravenosas/administración & dosificación , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Persona de Mediana Edad , Infecciones Urinarias/complicaciones
9.
Nanotechnology ; 26(35): 355701, 2015 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-26245538

RESUMEN

In this study, CeO2 was irradiated with 200 MeV Au ions at oblique incidence. Observation of as-irradiated samples by transmission electron microscopy (TEM) shows that hillocks are created not only at the wide surfaces, but also at the crack faces of the thin samples. Since the hillocks created at the crack faces can be imaged by TEM, their shape and crystallographic features can be revealed. From the images of hillocks created at the crack faces, many of the hillocks are found to be spherical. We present the first experimental evidence that hillocks created for CeO2 irradiated with swift heavy ions have a crystal structure whose lattice spacing and orientation coincide with those of the matrix. The mechanism of spherical crystalline hillock formation is discussed based on the present results.

10.
Opt Express ; 22(24): 29888-98, 2014 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-25606918

RESUMEN

Zn nanoparticles (NPs) embedded in a silica matrix subjected to irradiation with swift heavy ions of 200 MeV Xe¹4⁺ have been found to undergo shape elongation from spheres to prolate-spheroids while maintaining the major axes of the NPs in parallel alignment. The directionally-aligned Zn spheroids enable acquisition of optical properties, such as linear dichroism and birefringence. In this paper, the birefringence of the Zn spheroids was evaluated by the crossed-Nicols (XN) transmittance, where a sample was inserted between a pair of optical polarizers that were set in an orthogonal configuration. Linearly-polarized light aligned by the first polarizer was transformed to an elliptic polarization by the birefringence of the Zn spheroids. The existence of the birefringence was confirmed by the non-zero transmittance of the second polarizer in the orthogonal configuration. The sample irradiated with a fluence of 5.0 × 10¹³ ions/cm² exhibited a maximum XN transmittance of 2.1% at a photon energy of ~4 eV. The XN transmission was observed down to a fluence of 1.0 × 10¹² ions/cm², but reduced below the detection limit at a fluence of 1.0 × 10¹¹ ions/cm². The possible application of the elongated Zn NPs as a polarizer with nanometric thickness working in the near- and mid-ultraviolet region is discussed.


Asunto(s)
Iones Pesados , Nanopartículas del Metal/química , Radiación , Dióxido de Silicio/química , Zinc/química , Birrefringencia , Nanopartículas del Metal/ultraestructura , Análisis Espectral
11.
Nanotechnology ; 25(43): 435301, 2014 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-25288109

RESUMEN

Zinc nanoparticles (NPs) embedded in silica were irradiated with swift heavy ions (SHIs) of seven different combinations of species and energies. The shape elongation induced by the irradiations was evaluated by optical linear dichroism (OLD) spectroscopy, which is a sensitive tool for determining the change in the mean aspect ratio (AR) of NPs. Although the mean AR change indicated a linear fluence dependence in the low- and medium-fluence regions, it indicated a nonlinear dependence in the high-fluence region. The data reveal that the elongation efficiency of Zn is correlated with the electronic stopping power 'Se in silica' and is not correlated with either the 'Se in Zn' or the nuclear stopping power. The elongation efficiency plotted as a function of the 'Se in silica' revealed a linear relationship, with a threshold value of ∼2 keV nm(-1), which is the same dependence exhibited by the ion-track formation in silica. The log-log plot showed that the elongation efficiency increased linearly with Se above a critical value of ∼3 keV nm(-1) and steeply decreased with Se to the power of 5 below the critical Se. The steep decrease can be ascribed to the discontinuous nature of the ion tracks, which is expected at Se ∼ 2-4 keV nm(-1) in silica. The fluence Φ dependences of AR - 1 under various irradiations are well-normalized with the electronic energy deposition of SHIs, i.e., the product of Se and Φ, with a Se greater than the same critical value of ∼3 keV nm(-1). The normalized data above the critical value fell on a linear relation, AR(Φ) - 1 ∝ SeΦ, for SeΦ < 2 keV nm(-3) and a sublinear relation, AR(Φ) - 1 ∝ (SeΦ)(1/2) for SeΦ > 2 keV nm(-3). On the basis of these experimental results, we discuss some insights into the elongation mechanism.

12.
Nat Commun ; 15(1): 1786, 2024 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-38413643

RESUMEN

Injecting high-energy heavy ions in the electronic stopping regime into solids can create cylindrical damage zones called latent ion tracks. Although these tracks form in many materials, none have ever been observed in diamond, even when irradiated with high-energy GeV uranium ions. Here we report the first observation of ion track formation in diamond irradiated with 2-9 MeV C60 fullerene ions. Depending on the ion energy, the mean track length (diameter) changed from 17 (3.2) nm to 52 (7.1) nm. High resolution scanning transmission electron microscopy (HR-STEM) indicated the amorphization in the tracks, in which π-bonding signal from graphite was detected by the electron energy loss spectroscopy (EELS). Since the melting transition is not induced in diamond at atmospheric pressure, conventional inelastic thermal spike calculations cannot be applied. Two-temperature molecular dynamics simulations succeeded in the reproduction of both the track formation under MeV C60 irradiations and the no-track formation under GeV monoatomic ion irradiations.

13.
Eur J Gynaecol Oncol ; 34(1): 104-6, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23590014

RESUMEN

The present report describes a rare case of a uterine perivascular epithelioid cell tumor (PEComa) arising from a polypoid adenomyoma. The patient, a 44-year-old woman with tuberous sclerosis, was incidentally found to have a uterine mass with malignant-appearing features on a computed tomography (CT) scan. Pathological examination of the hysterectomy specimen demonstrated that the tumor was composed of pale, spindle-shaped, epithelioid tumor cells which were positive for SMA and HMB-45. These findings were consistent with a PEComa arising from a polypoid adenomyoma.


Asunto(s)
Adenomioma/patología , Neoplasias de Células Epitelioides Perivasculares/patología , Pólipos/patología , Neoplasias Uterinas/patología , Adulto , Femenino , Humanos , Inmunohistoquímica
14.
Water Sci Technol ; 67(11): 2488-93, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23752380

RESUMEN

Microbial acidification of incinerated sewage sludge ash and dissolution of metals from the acidified ash were investigated using a semi-batch reactor at different solid retention times (SRTs). The average pH values ranged from 0.91 to 1.2 at SRTs longer than 10 days, whereas the reduction of SRT to 4 days resulted in an increase in the pH value to about 2. The dissolution efficiencies of Al, As, Cd, Cu and Mn were greater than 60% at a SRT of 4 days. Moreover, the effect of pH on precipitation of metals and P (dissolution of 80%) in the filtrate removed from the acidified sewage ash suspension, and the separation of phosphorus and the other metals in the filtrate using ethylenediaminetetraacetic acid (EDTA) or ferric ion, were examined. Although neutralisation of the filtrate to a pH of 5 simultaneously precipitated 100% of Al and 80% of P recovered from the acidified sewage ash, the addition of EDTA decreased their precipitation to 70 and 50%, respectively, at the same pH value, which would promote precipitation of P as calcium phosphate. Furthermore, neutralising to a pH of 2.5 after the addition of ferric ion precipitated P separately from Al and heavy metals.


Asunto(s)
Bacterias/metabolismo , Contaminantes Ambientales/química , Residuos Industriales , Metales/química , Fósforo/química , Reactores Biológicos , Quelantes/química , Ácido Edético/química , Incineración , Material Particulado , Reciclaje/métodos , Aguas del Alcantarillado , Ácidos Sulfúricos/química
15.
Kyobu Geka ; 65(5): 385-8, 2012 May.
Artículo en Japonés | MEDLINE | ID: mdl-22569496

RESUMEN

The case was 11-month-old girl diagnosed as tetralogy of Fallot with severe pulmonary valve stenosis and suffering from severe cyanosis. A catheter study demonstrated pulmonary artery (PA) was well arborized, but severely hypoplastic in spite of previous transcatheter pulmonary valve dilatation; PA index was calculated as 69 mm²/m². A central end-to-side aorta to PA shunt was created. Cyanosis was well improved, but congestive heart failure occurred after 1 month from the operation. Subsequent catheter study demonstrated pulmonary artery growth, 166 mm²/m² of PA index and major aortopulmonary collateral artery (MAPCA) coil embolization was performed. Patient underwent Rastelli type definitive repair 9 month after palliation. The central end-to-side aorta to PA shunt is reported as useful measure for promoting PA size increase and definitive repair achievement in patient with pulmonary atresia, ventricular septal defect and severely hypoplastic PA. Appropriate consideration of criteria, carefull follow up and treatments are necessary.


Asunto(s)
Defectos del Tabique Interventricular/cirugía , Arteria Pulmonar/anomalías , Arteria Pulmonar/cirugía , Estenosis de la Válvula Pulmonar/cirugía , Anastomosis Quirúrgica , Aorta/cirugía , Femenino , Humanos , Lactante
16.
Neuropediatrics ; 42(4): 156-8, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21877311

RESUMEN

We report a patient with neonatal Coxsackie B2 meningo-encephalitis in whom magnetic resonance imaging (MRI) could be performed serially from the early stage of the disease. The patient was a 12-day-old girl born at a gestational age of 37 weeks. She was hospitalized due to poor suckling. During her hospital stay, she developed clonic seizures in the right upper and lower limbs. Coxsackie B2 virus was detected, and a diagnosis of viral encephalitis was made. The first diffusion-weighted images (DWI) showed an abnormal high-intensity area restricted to the corpus callosum and posterior limb of the internal capsule 8 h after onset of seizures. Repeated MRI revealed damage to the white matter, which finally changed into diffuse excessive necrosis followed by cystic leukomalacia. Early DWI is valuable for the early detection and diagnosis of neonatal meningo-encephalitis. This is the first report of the detailed neuroradiological course of neonatal Coxsackie B2 meningo-encephalitis.


Asunto(s)
Infecciones por Coxsackievirus/complicaciones , Discapacidades del Desarrollo , Encefalitis , Enterovirus Humano B/patogenicidad , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/virología , Imagen de Difusión por Resonancia Magnética/métodos , Encefalitis/diagnóstico , Encefalitis/etiología , Encefalitis/virología , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido
17.
Sci Rep ; 11(1): 185, 2021 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-33420182

RESUMEN

Damaged regions of cylindrical shapes called ion tracks, typically in nano-meters wide and tens micro-meters long, are formed along the ion trajectories in many insulators, when high energy ions in the electronic stopping regime are injected. In most cases, the ion tracks were assumed as consequences of dense electronic energy deposition from the high energy ions, except some cases where the synergy effect with the nuclear energy deposition plays an important role. In crystalline Si (c-Si), no tracks have been observed with any monomer ions up to GeV. Tracks are formed in c-Si under 40 MeV fullerene (C60) cluster ion irradiation, which provides much higher energy deposition than monomer ions. The track diameter decreases with decreasing the ion energy until they disappear at an extrapolated value of ~ 17 MeV. However, here we report the track formation of 10 nm in diameter under C60 ion irradiation of 6 MeV, i.e., much lower than the extrapolated threshold. The diameters of 10 nm were comparable to those under 40 MeV C60 irradiation. Furthermore, the tracks formed by 6 MeV C60 irradiation consisted of damaged crystalline, while those formed by 40 MeV C60 irradiation were amorphous. The track formation was observed down to 1 MeV and probably lower with decreasing the track diameters. The track lengths were much shorter than those expected from the drop of Se below the threshold. These track formations at such low energies cannot be explained by the conventional purely electronic energy deposition mechanism, indicating another origin, e.g., the synergy effect between the electronic and nuclear energy depositions, or dual transitions of transient melting and boiling.

18.
Trop Med Int Health ; 15(11): 1274-7, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20976874

RESUMEN

Is a published research paper an important indicator of successful operational research at programme level in low-income countries? In academia, publishing in peer-reviewed scientific journals is highly encouraged and strongly pursued for academic recognition and career progression. In contrast, for those who engage in operational research at programme level, there is often no necessity or reward for publishing the results of research studies; it may even be criticized as being an unnecessary detraction from programme-related work. We present arguments to support publishing operational research from low-income countries; we highlight some of the main reasons for failure of publication at programme level and suggest ways forward.


Asunto(s)
Países en Desarrollo , Investigación Operativa , Publicaciones Periódicas como Asunto , Edición , Humanos , Indicadores de Calidad de la Atención de Salud
19.
Int J Tuberc Lung Dis ; 13(5): 551-5, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19383185

RESUMEN

Active default tracing is an integral part of tuberculosis (TB) programmatic control. It can be differentiated into the tracing of defaulters (patients not seen at the clinic for > or =2 months) and 'late patients' (late for their scheduled appointments). Tracing is carried out to obtain reliable information about who has truly died, transferred out or stopped treatment, and, if possible, to persuade those who have stopped treatment to resume. This is important because, unlike routine care for non-communicable diseases, TB has the potential for transmission to other members of the community, and therefore presents the issue of the rights of the individual over the rights of the community. For this reason, default or 'late patient' tracing (defined together as default tracing in this article) has been incorporated into standard practice in most TB programmes and, in many industrialised countries, it is also a part of public health legislation. In resource-poor countries with limited access to phones or e-mails, default tracing involves active home visits. In this Unresolved Issues article, we discuss the need for patient consent within both the programmatic and the research context; we describe how this subject arose during operational research training at the Research Institute of Tuberculosis in Japan; we provide comments from individuals who are experienced and skilled at international and national TB control; and finally we offer some conclusions about the way forward. This is not an easy subject, and we welcome open debate on the issue.


Asunto(s)
Consentimiento Informado , Vigilancia de la Población/métodos , Evaluación de Programas y Proyectos de Salud/métodos , Salud Pública/métodos , Sociedades Médicas , Tuberculosis/prevención & control , Salud Global , Humanos , Cooperación Internacional , Tuberculosis/epidemiología
20.
J Med Genet ; 45(12): 802-7, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18611981

RESUMEN

OBJECTIVE: Severe congenital neutropenia (SCN), also known as Kostmann syndrome (SCN3, OMIM 610738), includes a variety of haematological disorders caused by different genetic abnormalities. Mutations in ELA2 are most often the cause in autosomal dominant or sporadic forms. Recently, mutations in HAX1 have been identified as the cause of some autosomal recessive forms of SCN, including those present in the original pedigree first reported by Kostmann. We sought to determine the relationship between HAX1 gene mutations and the clinical characteristics of Japanese cases of SCN. METHODS: The genes implicated in SCN (ELA2, HAX1, Gfi-1, WAS, and P14) were analysed in 18 Japanese patients with SCN. The clinical features of these patients were obtained from medical records. Immunoblotting of HAX1 was performed on cell extracts from peripheral blood leucocytes from patients and/or their parents. RESULTS: We found five patients with HAX1 deficiency and 11 patients with mutations in the ELA2 gene. In HAX1 deficiency, a homozygous single base pair substitution (256C>T), which causes the nonsense change R86X, was identified in three affected individuals. Two sibling patients showed a compound heterozygous mutation consisting of a single base pair substitution (256C>T) and a 59 bp deletion at nucleotides 376-434. There was no detectable phenotype in any heterozygous carrier. All patients with HAX1 deficiency had experienced developmental delay. Three patients carrying R86X also suffered from epileptic seizures. In contrast, no SCN patient with heterozygous mutations in the ELA2 gene suffered from any neurodevelopmental abnormality. CONCLUSIONS: These findings suggest that the R86X mutation in the HAX1 gene is an abnormality in Japanese SCN patients with HAX1 deficiency and may lead to neurodevelopmental abnormalities and severe myelopoietic defects.


Asunto(s)
Discapacidades del Desarrollo/genética , Mutación , Neutropenia/congénito , Neutropenia/genética , Proteínas/genética , Proteínas Adaptadoras Transductoras de Señales , Secuencia de Bases , Femenino , Homocigoto , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Linaje
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