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1.
Nat Commun ; 15(1): 1144, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38326295

RESUMO

While a significant fraction of topological materials has been characterized using symmetry requirements1-4, the past two years have witnessed the rise of novel multi-gap dependent topological states5-9, the properties of which go beyond these approaches and are yet to be fully explored. Although already of active interest at equilibrium10-15, we show that the combination of out-of-equilibrium processes and multi-gap topological insights galvanize a new direction within topological phases of matter. We show that periodic driving can induce anomalous multi-gap topological properties that have no static counterpart. In particular, we identify Floquet-induced non-Abelian braiding, which in turn leads to a phase characterized by an anomalous Euler class, being the prime example of a multi-gap topological invariant. Most strikingly, we also retrieve the first example of an 'anomalous Dirac string phase'. This gapped out-of-equilibrium phase features an unconventional Dirac string configuration that physically manifests itself via anomalous edge states on the boundary. Our results not only provide a stepping stone for the exploration of intrinsically dynamical and experimentally viable multi-gap topological phases, but also demonstrate periodic driving as a powerful way to observe these non-Abelian braiding processes notably in quantum simulators.

2.
Soc Psychiatry Psychiatr Epidemiol ; 58(6): 919-929, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36526939

RESUMO

PURPOSE: The aim of this study is to evaluate the prevalence of anxiety disorders, its correlation with sociodemographic characteristics, its comorbidities with other psychiatric disorders and its predictors in school-aged children. METHODS: This study is part of a representative, multi-centered national study that is planned by the Turkish Association of Child and Adolescent Mental Health to evaluate the prevalence of psychopathology among elementary school students in Turkey between the years 2014-2015. Children are screened via Kiddie Schedule for Affective Disorders and Schizophrenia for School Age Children Present and Lifetime Version. Impairment is assessed by a 3-point Likert type scale independently by the parent and the teacher. The final sample included 5842 children with the mean age of 8.7 years. RESULTS: The prevalence of any anxiety disorder without considering impairment is 16.7% and considering impairment is 5.2% in children according to our study. We found significant differences for comorbid Attention Deficit Hyperactivity Disorder, Disruptive Behavior Disorder, Mood Disorders, Tic Disorders, Obsessive Compulsive Disorder, Enuresis Nocturna, Encopresis, and Intellectual Disability. Having a history of paternal physical disorder, living in the regions of Marmara, Mediterranean and Black Sea were found to be the main predictors of having childhood anxiety disorders according to the logistic regression analysis. CONCLUSION: Better understanding of childhood anxiety disorders, comorbid conditions and predictors will result in earlier diagnosis and more appropriate treatment.


Assuntos
Transtornos de Ansiedade , Transtorno do Deficit de Atenção com Hiperatividade , Criança , Adolescente , Humanos , Prevalência , Turquia/epidemiologia , Transtornos de Ansiedade/psicologia , Transtornos do Humor/epidemiologia , Comorbidade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Estudos Epidemiológicos
3.
Phys Rev Lett ; 125(5): 053601, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32794847

RESUMO

The last years have witnessed rapid progress in the topological characterization of out-of-equilibrium systems. We report on robust signatures of a new type of topology-the Euler class-in such a dynamical setting. The enigmatic invariant (ξ) falls outside conventional symmetry-eigenvalue indicated phases and, in simplest incarnation, is described by triples of bands that comprise a gapless pair featuring 2ξ stable band nodes, and a gapped band. These nodes host non-Abelian charges and can be further undone by converting their charge upon intricate braiding mechanisms, revealing that Euler class is a fragile topology. We theoretically demonstrate that quenching with nontrivial Euler Hamiltonian results in stable monopole-antimonopole pairs, which in turn induce a linking of momentum-time trajectories under the first Hopf map, making the invariant experimentally observable. Detailing explicit tomography protocols in a variety of cold-atom setups, our results provide a basis for exploring new topologies and their interplay with crystalline symmetries in optical lattices beyond paradigmatic Chern insulators.

4.
Phys Rev Lett ; 122(25): 253601, 2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31347903

RESUMO

The classification of topological Floquet systems with time-periodic Hamiltonians transcends that of static systems. For example, spinless fermions in periodically driven two-dimensional lattices are not completely characterized by the Chern numbers of the quasienergy bands, but rather by a set of winding numbers associated with the gaps. We propose a feasible scheme for measuring these winding numbers in a periodically driven optical lattice efficiently and directly. It is based on the construction of a one-parameter family of drives, continuously connecting the Floquet system of interest to a trivial reference system. The winding numbers are then determined by the identification and the tomography of the band-touching singularities occurring on the way. As a by-product, we also propose a method for probing spectral properties of time evolution operators via a time analog of crystallography.

5.
Nat Commun ; 10(1): 1728, 2019 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-30988292

RESUMO

Integer-valued topological indices, characterizing nonlocal properties of quantum states of matter, are known to directly predict robust physical properties of equilibrium systems. The Chern number, e.g., determines the quantized Hall conductivity of an insulator. Using non-interacting fermionic atoms in a periodically driven optical lattice, here we demonstrate experimentally that the Chern number determines also the far-from-equilibrium dynamics of a quantum system. Extending a respective proposal to Floquet systems, we measure the linking number that characterizes the trajectories of momentum-space vortices emerging after a strong quench. We observe that it directly corresponds to the ground-state Chern number. This one-to-one relation between a dynamical and a static topological index allows us to experimentally map out the phase diagram of our system. Furthermore, we measure the instantaneous Chern number and show that it remains zero under the unitary dynamics.

6.
Phys Rev Lett ; 120(24): 243602, 2018 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-29956955

RESUMO

The insertion of a local magnetic flux, as the one created by a thin solenoid, plays an important role in gedanken experiments of quantum Hall physics. By combining Floquet engineering of artificial magnetic fields with the ability of single-site addressing in quantum gas microscopes, we propose a scheme for the realization of such local solenoid-type magnetic fields in optical lattices. We show that it can be employed to manipulate and probe elementary excitations of a topological Chern insulator. This includes quantized adiabatic charge pumping along tailored paths inside the bulk, as well as the controlled population of edge modes.

7.
Phys Rev Lett ; 116(4): 045305, 2016 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-26871343

RESUMO

Artificial magnetic fields (AMFs) created for ultracold systems depend sensitively on the internal structure of the atoms. In a mixture, each component experiences a different AMF depending on its internal state. This enables the study of Bardeen-Cooper-Schrieffer pairing of fermions with unequal effective charges. In this Letter, we investigate the superconducting (SC) transition of a system formed by such pairs as a function of field strength. We consider a homogeneous two-component Fermi gas of unequal effective charges but equal densities with attractive interactions. We find that the phase diagram is altered drastically compared to the usual balanced charge case. First, for some AMFs there is no SC transition and isolated SC phases are formed, reflecting the discrete Landau level (LL) structure. SC phases become reentrant both in AMF and temperature. For extremely high fields where both components are confined to their lowest LLs, the effect of the charge imbalance is suppressed. Charge asymmetry reduces the critical temperature even in the low-field semiclassical regime. We discuss a pair breaking mechanism due to the unequal Lorentz forces acting on the components of the Cooper pairs to identify the underlying physics.

8.
J Obstet Gynaecol ; 36(3): 372-5, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26466512

RESUMO

This study assessed whether NAC could prevent cyclophosphamide (CY)-induced damage, by measuring the anti-Müllerian hormone (AMH) levels. Forty-eight Sprague-Dawley female rats were divided into four groups: CY + NAC, CY, NAC and control, each including 12 rats. There was no significant difference among the 24-h AMH values of the groups (p = 0.452), whereas a significant difference was found in terms of 72-h values (p = 0.003). Paired comparisons revealed no significant difference between CY and CY + NAC (p>0.699) and NAC (p = 0.065) groups regarding 72-h AMH values. However, AMH concentrations of the CY group at 72 hours were significantly lower than those of the control group (p = 0.015). AMH concentrations of the CY + NAC group at 72 hours were also significantly lower than those of the NAC group (p = 0.002) and the control group (p = 0.002). The AMH levels of CY and CY + NAC groups at 72 hours were significantly lower than those at 24 hours. The 24-h and 72-h AMH levels in the NAC and control groups were similar. In the present study, a single dose of NAC failed to prevent the cytotoxic effects of CY.


Assuntos
Acetilcisteína/uso terapêutico , Antineoplásicos Alquilantes/efeitos adversos , Ciclofosfamida/efeitos adversos , Sequestradores de Radicais Livres/uso terapêutico , Infertilidade Feminina/prevenção & controle , Acetilcisteína/farmacologia , Animais , Hormônio Antimülleriano/sangue , Avaliação Pré-Clínica de Medicamentos , Feminino , Sequestradores de Radicais Livres/farmacologia , Glutationa/metabolismo , Infertilidade Feminina/induzido quimicamente , Reserva Ovariana/efeitos dos fármacos , Ratos Sprague-Dawley
9.
Hum Exp Toxicol ; 34(3): 284-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24925364

RESUMO

OBJECTIVE: Clomiphene citrate (CC) is a selective estrogen receptor modulator and is used for the treatment of in vitro fertilization, intracytoplasmic sperm injection, intrauterine insemination, and so on. In this study, sister chromatid exchanges (SCEs) and cell cycle delays were analyzed to investigate genotoxicity and cytotoxicity of CC in peripheral blood lymphocytes of healthy women. METHODS: Human peripheral blood lymphocytes obtained from two donors were used to detect genotoxicity and cytotoxicity of CC. Lymphocytes were treated with various concentrations (0.40, 0.80, 1.60, and 3.20 µg/ml) of CC. A negative (distilled water) and a positive control (mitomycin-C = 0.20 µg/ml) were also used simultaneously with test substance-treated cultures. SCEs and cell division delays were measured from 25 cells and 100 cells perdonor, respectively. RESULTS: CC significantly increased the mean SCE value at all concentrations compared with the negative control. This increase was found to be dose dependent (r = 0.83) and at the highest concentration, nearly two times higher increase was observed than the negative control. However, replication index was not affected by the CC treatment. CONCLUSION: The present study shows that CC is genotoxic for human lymphocytes in vitro. Further investigations, especially in vivo are now needed in different test organisms to clarify the genotoxic activity of CC, which should also help to better understand genotoxic mechanism of this ovulation-stimulating drug.


Assuntos
Clomifeno/toxicidade , Linfócitos/efeitos dos fármacos , Mutagênicos/toxicidade , Moduladores Seletivos de Receptor Estrogênico/toxicidade , Adulto , Divisão Celular/efeitos dos fármacos , Células Cultivadas , Feminino , Humanos , Linfócitos/citologia , Troca de Cromátide Irmã , Adulto Jovem
10.
Food Chem Toxicol ; 74: 294-300, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25455895

RESUMO

In this study, we aimed at determining possible genetic damage to women who were exposed to in vitro fertilization (IVF) due to infertility with male factor. Four different genotoxicity tests were used in human lymphocytes in this study with regard to chromosomal aberration (CA), sister chromatid exchange (SCE), micronucleus (MN), and comet tests. There was a statistically significant increase in sister chromatid exchange (SCE) test in the study group compared with the control group. In addition, a higher rate of MN frequency was determined only in the 21­30 age range study group compared with the control group in the same age range. On the other hand, MN frequency did not differ significantly between the control and total study groups. In addition, there was no significant difference between the control group and the study group in terms of mitotic (MI), replication (RI), and nuclear division (NDI) indices. Furthermore, there was no statistically significant increase for chromosomal aberration and DNA damage to the study groups. Our results showed that in vitro fertilization treatments have a weak risk at the genetic level in cultured human lymphocytes.


Assuntos
Fertilização in vitro/efeitos adversos , Infertilidade Feminina/genética , Infertilidade Masculina/genética , Mutação/efeitos dos fármacos , Adulto , Envelhecimento/fisiologia , Aberrações Cromossômicas/efeitos dos fármacos , Ensaio Cometa , Dano ao DNA , Feminino , Humanos , Linfócitos/efeitos dos fármacos , Masculino , Testes para Micronúcleos , Índice Mitótico , Testes de Mutagenicidade , Troca de Cromátide Irmã/efeitos dos fármacos , Adulto Jovem
11.
J Laryngol Otol ; 127(10): 997-1000, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24074040

RESUMO

OBJECTIVE: To investigate the relationship between development of laryngeal cancer and the presence of polymorphisms of the MnSOD Val16Ala, CAT-262 C < T and GPx1 Pro198Leu genes in a smoking population. PATIENTS AND METHODS: Single nucleotide polymorphisms were determined in DNA from the peripheral blood erythrocytes of 48 heavy smokers (25 patients with laryngeal cancer and 23 cancer-free controls), using polymerase chain reaction. RESULTS: There were no significant differences in age, smoking duration or smoking intensity, comparing the two groups. The homozygous AA genotype of MnSOD Val16Ala was significantly more prevalent in the cancer group than the control group (92 vs 13 per cent, respectively), while the heterozygous AV genotype of MnSOD Val16Ala was more prevalent in the control group than the cancer group (87 vs 8 per cent, respectively) (p < 0.001). There were no significant differences between the cancer and control groups regarding GPx1 Pro198Leu or CAT-262 C < T polymorphisms. CONCLUSION: Polymorphism of the MnSOD Val16Ala gene may contribute to susceptibility to laryngeal cancer among smokers.


Assuntos
Catalase/genética , Glutationa Peroxidase/genética , Neoplasias Laríngeas/genética , Polimorfismo de Nucleotídeo Único , Fumar/efeitos adversos , Superóxido Dismutase/genética , Adulto , Idoso , Antioxidantes , Estudos de Casos e Controles , DNA/química , Feminino , Sequestradores de Radicais Livres , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Fatores de Risco , Glutationa Peroxidase GPX1
12.
Food Chem Toxicol ; 56: 240-6, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23454296

RESUMO

The genotoxic potential of the vaccine adjuvant Squalene was assessed by the chromosomal aberrations (CAs), sister chromatid exchanges (SCEs) and micronucleus (MNs) tests in human lymphocytes and comet assay in both human and rat lymphocytes. Five different concentrations of squalene (1250-20,000 µg/ml for human lymphocytes and 0.07-1.12 mg/kg for rat lymphocytes) were studied. Squalene did not affect the CAs and MN frequency, in all treatments in vitro. A significant increase in SCEs was observed in almost all concentrations at 24 h treatment. Squalene did not affect significantly the comet tail length (CTL) (except 2500 µg/ml) and comet tail intensity (CTI) at all treatments in vitro. In rats, squalene significantly increased and decreased CTL and CTI in some doses. Although there are increasing and reduction in the effect, squalene cannot be regarded as genotoxic in human lymphocytes. However, further in vivo studies are required to be sure on the effect.


Assuntos
Adjuvantes Imunológicos/efeitos adversos , Dano ao DNA/efeitos dos fármacos , Esqualeno/efeitos adversos , Adulto , Animais , Aberrações Cromossômicas/efeitos dos fármacos , Ensaio Cometa , Relação Dose-Resposta a Droga , Feminino , Humanos , Linfócitos/efeitos dos fármacos , Masculino , Testes para Micronúcleos , Ratos , Ratos Wistar , Troca de Cromátide Irmã/efeitos dos fármacos , Adulto Jovem
13.
Plant Dis ; 95(4): 495, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30743353

RESUMO

In July 2009, a leaf blotch disease was observed on sorghum in Sakarya Province, Turkey. Disease incidence and severity were rated at 45% and 25 to 75%, respectively. Typical symptoms included elliptical, straw-colored, necrotic lesions with darker margins. The lesions eventually coalesced, resulting in drying of leaves. A fungus was isolated from the lesions on potato dextrose agar (PDA) incubated under near ultraviolet light for 12 h daily at 22°C for 2 weeks. Flexuous conidiophores of the fungus were solitary or produced in small groups. They were geniculate with numerous well-defined scars, medium to dark brown, ≥300 µm long, and 4 to 9 µm thick. Five to eight or more conidia were produced on the apices of the conidiophores. The conidia were straight, oblong or cylindrical, rounded at the ends, golden brown at maturity except for a small area just above the dark scar, pseudoseptate, and 20 to 31 × 7.5 to 12.5 µm (1). The causal fungus was identified as Bipolaris spicifera (Bain) Subram. (teleomorph Cochliobolus spicifer Nelson). The identification was confirmed with specific PCR primers (Bipol-1 F: 5'-CAGTTGCAATCAGCGTCAGT-3', R: 5'-AAGACAAAAACGCCCAACAC-3', Bipol-2 F: 5'-GTGTTGGGCGTTTTTGTCTT-3', R: 5'-CCTACCTGATCCGAGGTCAA-3', Bipol-3 F: 5'-GATGAAGAACGCAGCGAAAT-3', R: 5'-AAGACAAAAACGCCCAACAC-3'). These primers were designed by the authors using Primer3 primer design software and sequences of B. spicifera found in GenBank. PCR products were amplified from nuclear DNA of the cultured fungus and were sequenced after cleaning with a Beckman 8000 CEQ DNA sequencer. Sequences amplified using Bipol-1 and Bipol-2 showed 99 to 100% similarity with B. spicifera sequences from GenBank. The DNA sequence amplified using Bipol-2 was deposited in GenBank (Accession No. HQ538774). B. spicifera has been reported previously as pathogenic in Africa, North and South America, Asia, Australia, Oceania, and the West Indies on Agrostis, Avena, Cymbopogon, Cynodon, Dactylis, Desmostachya, Eleusine, Holcus, Hordeum, Oryza, Panicum, Pennisetum, Phleum, Poa, Saccharum, Sorghum, Triticum, and Zea spp. (3). Pathogenicity tests were conducted on sorghum (Sorghum bicolor (L.) Moench) and Sorghum × sudangrass hybrid cultivars. From PDA cultures, conidia were collected in sterile distilled water with a concentration of 3% Tween 20. Twenty-five plants (five per pot) were inoculated by spraying the conidia (105 ml-1) onto 21-day-old plants, which were then maintained at 25 ± 2°C in a greenhouse following 48 h in a humid chamber. The test was repeated once. Control plants were sprayed with sterile distilled water. Typical symptoms (2) were obtained from all inoculated plants 7 days after inoculation. No symptoms developed on the control plants. The pathogen was reisolated from inoculated leaves to fulfill Koch's postulates. To our knowledge, this is the first report of B. spicifera on sorghum in Turkey. References: (1) M. B. Ellis. Dematiaceous Hyphomycetes. Commonwealth Mycological Institute, Kew, Surrey, England, 1971. (2) H. Koo et al. Plant Pathol. J. 19:133, 2003. (3) A. Sivanesan. Mycologia Papers 158:1, 1987.

14.
Food Chem Toxicol ; 49(4): 763-9, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21130826

RESUMO

In this study, the genotoxic effects of sodium benzoate (SB) and potassium benzoate (PB) were investigated in cultured human peripheral lymphocytes using chromosomal aberrations (CA), sister chromatid exchange (SCE), and micronuclei (MN). The level of nuclear DNA damage of SB and PB were also evaluated using the comet assay. The lymphocytes were incubated with different concentrations of SB (6.25, 12.5, 25, 50, and 100 µg/ml) and PB (62.5, 125, 250, 500, and 1000 µg/ml). A significant increase was observed in CA, SCE, and MN, in almost all treatments compared to negative controls. SB and PB significantly decreased the mitotic index (MI) in all the treatments, compared to the negative controls. However, neither of the additives affected the replication index (RI). Although SB significantly increased DNA damage, PB did not cause a significant increase in DNA damage. The present results indicate that SB and PB are clastogenic, mutagenic and cytotoxic to human lymphocytes in vitro.


Assuntos
Benzoatos/toxicidade , Conservantes de Alimentos/toxicidade , Testes de Mutagenicidade , Benzoato de Sódio/toxicidade , Relação Dose-Resposta a Droga , Humanos , Linfócitos/efeitos dos fármacos
15.
Genetika ; 44(3): 323-8, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18664135

RESUMO

The genotoxic effects of fungicide Conan 5FL (containing 50 g/L hexaconazole) in mouse bone-marrow cells and human lymphocytes have been evaluated. Three different concentrations of Conan 5FL (17.50, 35.00 and 70.00 microg/mL for human lymphocytes and 17.50, 35.00 and 70.00 mg/kg for mouse bone marrow cells) were studied. Conan 5FL induced significant increases (except 17.50 mg/kg for mouse bone marrow) in the frequency of chromosomal aberrations (CAs) in both test systems. This fungicide caused structural and numerical abnormalities in both mammalian cells. These are sister chromatid union, chromatid and chromosome breaks, fragments, dicentric and ring chromosomes, and polyploidy. Significant increase was found in induction and in minimum-maximum numbers of sister chromatid exchanges (SCEs) at all treatments compared with the negative control. Conan 5FL did not affect the replication index (RI) in human lymphocyte cultures, however, it significantly decreased the mitotic index (MI) in all treatment concentrations in both test systems. Using of Conan 5FL should be reconsidered due to its possible cytotoxic, clastogenic and mutagenic effects.


Assuntos
Aberrações Cromossômicas/induzido quimicamente , Fungicidas Industriais/toxicidade , Triazóis/toxicidade , Animais , Células da Medula Óssea/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Células Cultivadas , Humanos , Linfócitos/efeitos dos fármacos , Camundongos , Micronúcleos com Defeito Cromossômico/efeitos dos fármacos , Testes de Mutagenicidade , Poliploidia , Troca de Cromátide Irmã/efeitos dos fármacos
16.
Neuropediatrics ; 38(3): 151-3, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17985266

RESUMO

Growth factors have been implicated in the pathogenesis of autism. We have investigated daily urinary excretion of insulin-like growth factor-1 (IGF-1), epidermal growth factor, and insulin-like growth factor binding protein-3 in autistic children (n=34, age 2-5 years) and age-matched control children (n=29). The mean urinary IGF-1 level was lower in the autism group than the control group (p=0.03). Height was normal. These findings suggest altered IGF-1 metabolism in young autistic children. The cause-effect relationship should be examined by longitudinal studies and insulin-like growth factor provocation tests.


Assuntos
Transtorno Autístico/urina , Fator de Crescimento Epidérmico/urina , Fator de Crescimento Insulin-Like I/urina , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Masculino
17.
Int J Gynecol Cancer ; 17(1): 266-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17291265

RESUMO

Primitive neuroectodermal tumor (PNET) is a small round tumor belonging to the PNET/Ewing's sarcoma family. We hereby report a case of PNET of the ovary, which was detected at the second trimester of pregnancy. Chemotherapy was administered and a healthy baby was delivered by cesarean section. After the pregnancy, the mother was found to have metastatic disease. Chemotherapy was continued, but she died due to progressive disease 13 months after the initial diagnosis. In this case report, we discuss chemotherapy options during pregnancy and the importance of multidisciplinary approach to unusual presentations of rare tumors.


Assuntos
Tumores Neuroectodérmicos Primitivos Periféricos/tratamento farmacológico , Tumores Neuroectodérmicos Primitivos Periféricos/patologia , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/patologia , Complicações Neoplásicas na Gravidez/tratamento farmacológico , Complicações Neoplásicas na Gravidez/patologia , Adulto , Feminino , Humanos , Gravidez
18.
J Intellect Disabil Res ; 51(Pt 2): 151-61, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17217479

RESUMO

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.


Assuntos
Síndrome do Cromossomo X Frágil/terapia , Equipe de Assistência ao Paciente , Assistência ao Paciente/métodos , Doenças da Aorta/diagnóstico , Doenças da Aorta/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Síndrome do Cromossomo X Frágil/epidemiologia , Perda Auditiva Condutiva/diagnóstico , Perda Auditiva Condutiva/epidemiologia , Humanos , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Prolapso da Valva Mitral/diagnóstico , Prolapso da Valva Mitral/epidemiologia , Erros de Refração/diagnóstico , Erros de Refração/epidemiologia , Convulsões/epidemiologia , Estrabismo/diagnóstico , Estrabismo/epidemiologia , Inquéritos e Questionários
19.
Pediatr Transplant ; 9(6): 723-8, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16269042

RESUMO

To summarize the evolution of the pediatric liver transplant program in a developing country. Between April 1997, and September 2003, 32 cadaveric (CD) and 35 living donor (LD) liver transplantations were performed on 61 children (median age 3.8 yr, range 0.5-16) at Ege University Organ Transplantation and Research Center. The patient's charts were reviewed retrospectively. The outcome of patient and graft survival was analyzed and the incidence of graft loss, complications and rejections was calculated. Indications for liver transplantation were metabolic liver disease (n = 17), biliary atresia (n = 14), viral hepatitis (n = 4), autoimmune hepatitis (n = 6), cryptogenic cirrhosis (n = 11), fulminant liver failure (n = 5) and others (n = 5). Seven of 61 children with chronic liver disease had hepatocellular carcinoma concomitantly. Median pediatric end-stage liver disease score was 23 (range 1-54). Seven children (11.4%) were UNOS status I, 44 (72%) were UNOS status II and 10 (16.6%) were UNOS status III. The median follow-up of the study population was 3.6 yr (range 0.5-6). Actuarial patient survival rates at 1, 2, 3 and 4 yr were 86, 86, 71.3 and 65% in the CD group vs. 80, 76, 67 and 67% in the LR group, respectively (p = NS). Patients listed as UNOS status 1 had lower survival rates than patients listed as UNOS status 2 and 3 (p < 0.05). The mortality rate was 26.2%. Graft survival rates were 81, 81, 75 and 64% at 1, 2, 3 and 4-yr respectively. Six patients (9%) underwent retransplantation. The main complications were infections (64.7%) and surgical complications (43.2%) (including biliary complication, vascular problems, postoperative bleeding, small for size and large for size). The incidence of acute cellular rejection was 39.3%, whereas chronic rejection was 7.4%. The result of liver transplantation in Turkish children was slightly inferior to those reported for North American and European children. However, an important characteristic of these patients that distinguishes them from Europe and North America is that most were UNOS status IIa and UNOS status I (44%). Despite technical and medical progress, infectious and biliary problems have continued to be an important cause of mortality in these patients.


Assuntos
Transplante de Fígado/fisiologia , Adolescente , Carcinoma Hepatocelular/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Hepatopatias/classificação , Hepatopatias/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado/mortalidade , Transplante de Fígado/patologia , Masculino , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Análise de Sobrevida , Falha de Tratamento , Resultado do Tratamento , Turquia
20.
Acta Neurochir (Wien) ; 146(8): 813-8, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15254803

RESUMO

BACKGROUND: Anterolateral oblique corpectomy is an alternative approach to treatment of multilevel cervical spinal disease. It is stated that the approach does not cause instability in the patients with hard discs, so fusion or instrumentation is not required. The authors undertook a study on stability of the cervical spine by an animal model to establish if this approach causes instability. MATERIAL AND METHODS: Thirty-seven C3 to C6 spinal segments obtained from 3 to 4-year-old male sheep were used. In vitro maximal loading values were obtained from seven sheep cervical specimens for flexion, extension, lateral flexion in both directions, axial rotation in both directions and axial loading, and load deformation curves were drawn by an electrohydrolic testing machine. Other specimens were divided into three groups: Control (n=10), C4 (n=10) and C4-5 (n=10) groups. In two study groups, one or two level oblique corpectomies were performed. In the control and study groups, biomechanical tests were obtained according to the maximal loading values. Load-deformation curves were drawn and displacement amounts were determined for all seven movements. RESULTS: No statistically significant differences were observed in load deformation curves and displacement amounts between all three groups for seven movements. CONCLUSION: These results support the opinion that anterolateral oblique corpectomy does not cause cervical instability.


Assuntos
Vértebras Cervicais/fisiopatologia , Vértebras Cervicais/cirurgia , Discotomia , Laminectomia , Animais , Técnicas de Cultura , Masculino , Modelos Animais , Ovinos , Estresse Mecânico , Suporte de Carga
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