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1.
Ludovica pediátr ; 26(1): 16-28, jul2023.
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1510961

RESUMO

La lactancia materna y una alimentación complementaria adecuada en los primeros dos años del niño son fundamentales para lograr un mejor crecimiento y desarrollo, estando dichas prácticas moldeadas por las representaciones sociales de cada familia. El objetivo de este trabajo fue conocer las representaciones sociales sobre lactancia materna, la alimentación complementaria y sobre el sistema de salud en relación a las prácticas de alimentación de familias que realizaron el control de salud de sus niños en un hospital público de la Provincia de Buenos Aires. Metodología: Se utilizó un diseño cualitativo, a través de dos grupos focales con familiares responsables de la alimentación de niños que realizaban sus controles en los consultorios pediátricos del Observatorio de salud del IDIP durante los meses noviembre 2022 a marzo 2023. A partir del análisis se llegó a la construcción de distintas subcategorías de representaciones sociales: valores, creencias, aprendizajes, normas y mitos. El proyecto fue aprobado por el Comité de Ética Institucional. Resultados: Se encontró una valoración de la lactancia materna como práctica que refuerza el vínculo con el lactante y como el mejor alimento para el niño. Los factores socioeconómicos y el tiempo se identificaron como limitantes para lograr una alimentación complementaria saludable. El sistema de salud se presentó como un constante generador de información sobre las formas de inicio y mantenimiento de estas prácticas de alimentación. Conclusiones: Es fundamental conocer las representaciones sociales que moldean las prácticas de lactancia materna y alimentación complementaria de cada comunidad para diseñar acciones desde el sistema de salud enfocadas en la prevención de la malnutrición infantil, y en consecuencia, las enfermedades crónicas no transmisibles, promoviendo una nutrición sana y un óptimo desarrollo físico y mental


Breastfeeding and adequate complementary feeding in the first two years of the child are essential to achieve better growth and development, these practices being shaped by the social representations of each family. We sought to know the social representations about breastfeeding and complementary feeding in families that carried out the health control of their children in a public hospital in the Province of Buenos Aires. Methodology: A qualitative design was used, through two focus groups with relatives responsible for feeding children who carried out their controls in the pediatric clinics of the IDIP Health Observatory during the months of November 2022 to March 2023. From the analysis, the construction of different subcategories of social representations was reached: values, beliefs, learning, norms and myths. The project was approved by the institutional ethics committee. Results: An assessment of breastfeeding was found as a practice that reinforces the bond with the infant and as the best food for the child. Socioeconomic factors and time were identified as limiting to achieve a healthy complementary diet. The health system was presented as a constant generator of information on the ways to start and maintain these feeding practices. Conclusions: It is essential to know the social representations that shape the practices of breastfeeding and complementary feeding in each community, to design actions from the health system focused on the prevention of child malnutrition, and consequently, chronic non-communicable diseases, promoting a healthy nutrition and optimal physical and mental development


Assuntos
Aleitamento Materno , Fenômenos Fisiológicos da Nutrição do Lactente , Ciências da Nutrição , Representação Social
2.
Ludovica Pediatr ; 25(2): 27-36, dic.2022.
Artigo em Espanhol | LILACS | ID: biblio-1414366

RESUMO

El sistema de salud argentino se ha constituido de manera compleja, caracterizándose por la segmentación y la fragmentación que dificultan la accesibilidad a los servicios de salud. Las personas gestantes constituyen una de las poblaciones de riesgo de padecer formas graves de enfermedad por coronavirus. Asimismo la Organización Panamericana de la Salud alertó sobre la interrupción de los servicios de atención de mujeres, especialmente al control prenatal y del recién nacido en la mitad de los países de las Américas. Se realizó un estudio cualitativo con el objetivo de describir y comprender las experiencias de accesibilidad al sistema de salud de personas que transitaron embarazo y/o parto durante la emergencia sanitaria en la Plata y Gran La Plata. Para ello se realizaron entrevistas semiestructuradas individuales a esta población. Los datos obtenidos fueron sometidos a un análisis de contenido temático, cuyas principales categorías de análisis fueron la segmentación y fragmentación del sistema de salud. Entre los resultados se destaca la importancia que tuvieron "las salitas" del primer nivel en el acceso a la atención de salud y el rol de las obstétricas en el intento de sortear los obstáculos que presenta la segmentación y la fragmentación del sistema sanitario. Se concluye que es menester pensar políticas para fortalecer el primer nivel de atención, la implementación de la estrategia de atención primaria de la salud en todos los niveles del sistema, al mismo tiempo que se requiere el fortalecimiento de una profesión autónoma y humanista, como lo es la obstetricia


The Argentine health system has been constituted in a complex manner, characterized by segmentation and fragmentation that hinder accessibility to health services. Pregnant women are one of the populations at risk of suffering severe forms of coronavirus disease. The Pan American Health Organization also warned about the interruption of women's health care services, especially prenatal and newborn care, in half the countries of the Americas. A qualitative study was carried out with the aim of describing and understanding the experiences of accessibility to the health system of people who experienced pregnancy and/or childbirth during the health emergency in La Plata and Gran La Plata. For this purpose, individual semi-structured interviews were conducted with this population. The data obtained were subjected to a thematic content analysis, whose main categories of analysis were the segmentation and fragmentation of the health system. Among the results, the importance of the "salitas" of the first level in the access to health care and the role of obstetricians in the attempt to overcome the obstacles presented by the segmentation and fragmentation of the health system stand out. It is concluded that it is necessary to think of policies to strengthen the first level of care, the implementation of the primary health care strategy at all levels of the system, and at the same time the strengthening of an autonomous and humanistic profession, such as midwifery, is required


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Adulto Jovem , Cuidado Pré-Natal/organização & administração , COVID-19 , Acessibilidade aos Serviços de Saúde , Serviços de Saúde Materna/organização & administração , Argentina , Pesquisa Qualitativa , Acesso à Atenção Primária
5.
Br J Cancer ; 116(7): 930-936, 2017 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-28208156

RESUMO

BACKGROUND: Cancer cells maintain high rates of glycolysis. Pyruvate dehydrogenase kinases (PDK) contribute to this phenomenon, which favours apoptosis resistance and cellular transformation. We previously reported upregulation of PDK4 in normal mucosa of colorectal cancer (CRC) patients compared with controls and in preneoplastic intestine of our mouse model. Decreased methylation of four consecutive PDK4 CpGs was observed in normal mucosa of patients. Although other members of the PDK family have been investigated for transformation potential, PDK4 has not been extensively studied. METHODS: PDK4 methylation in blood of CRC patients and controls was evaluated by pyrosequencing. PDK4 expression in human colon carcinoma cells was down-regulated by RNAi. Cellular migration and invasion, apoptosis and qRT-PCR of key genes were assessed. RESULTS: Pyrosequencing revealed decreased methylation of the same four consecutive CpGs in the blood of patients compared with controls. Cellular migration and invasion were reduced and apoptosis was increased following transient or stable inhibition of PDK4. Expression of vimentin, HIF-1 and VEGFA was reduced. CONCLUSIONS: These studies demonstrate the involvement of PDK4 in transformation. Methylation assessment of PDK4 in the blood may be useful for non-invasive CRC detection. PDK4 should be considered as a target for development of anticancer strategies and therapies.


Assuntos
Apoptose , Biomarcadores Tumorais/metabolismo , Neoplasias do Colo/patologia , Metilação de DNA , Regulação Enzimológica da Expressão Gênica , Proteínas Serina-Treonina Quinases/metabolismo , Animais , Biomarcadores Tumorais/genética , Carcinogênese , Estudos de Casos e Controles , Movimento Celular , Proliferação de Células , Neoplasias do Colo/genética , Neoplasias do Colo/metabolismo , Feminino , Seguimentos , Humanos , Técnicas Imunoenzimáticas , Masculino , Camundongos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Proteínas Serina-Treonina Quinases/antagonistas & inibidores , Proteínas Serina-Treonina Quinases/genética , Piruvato Desidrogenase Quinase de Transferência de Acetil , RNA Interferente Pequeno/genética , Células Tumorais Cultivadas
6.
Radiat Prot Dosimetry ; 171(1): 64-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27555654

RESUMO

Biological Dosimetry is a necessary support for national radiation protection programmes and emergency response schemes. The Latin American Biological Dosimetry Network (LBDNet) was formally founded in 2007 to provide early biological dosimetry assistance in case of radiation emergencies in the Latin American Region. Here are presented the main topics considered in the foundational document of the network, which comprise: mission, partners, concept of operation, including the mechanism to request support for biological dosimetry assistance in the region, and the network capabilities. The process for network activation and the role of the coordinating laboratory during biological dosimetry emergency response is also presented. This information is preceded by historical remarks on biological dosimetry cooperation in Latin America. A summary of the main experimental and practical results already obtained by the LBDNet is also included.


Assuntos
Proteção Radiológica/métodos , Liberação Nociva de Radioativos/prevenção & controle , Radiometria/métodos , Planejamento em Desastres/métodos , Humanos , Agências Internacionais , Cooperação Internacional , América Latina
8.
Pediatr Obes ; 10(6): 476-82, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25779370

RESUMO

BACKGROUND: Genetic and epigenetic variations may be an important contributer to altered eating behaviors in childhood which may lead to weight gain and obesity later in life. OBJECTIVE: This study aimed to evaluate epigenetic as well as genetic associations with appetite in young children. SUBJECTS AND METHODS: Participants were 32 non-obese and 32 obese African-American children aged 5-6 years. Saliva was collected from each child, and RNA and DNA were extracted for analysis. Individuals were genotyped for eating- and obesity-associated single nucleotide polymorphisms in seven candidate genes (FTO, MAOA, SH2B1, LEPR, DNMT3B, BDNF and CCKAR), and DNA methylation levels were measured in the upstream promoter region of each. Transcript levels of MAOA and FTO were also assessed. The Children's Eating Behavior Questionnaire (CEBQ) was used to assess the aspects of appetite. Child obesity was assessed using measured height and weight, and percent body fat was measured by dual-energy X-ray absorptiometry. RESULTS: Food responsiveness was higher and satiety responsiveness was lower among obese than non-obese female children (P = 0.001 and P = 0.031), but did not differ among male children. Epigenetic analysis of the BDNF promoter revealed associations with altered satiety responsiveness among female children (P < 0.01). CONCLUSION: The findings provide new evidence of epigenetic associations with altered appetite among young African-American girls.


Assuntos
Apetite/genética , Negro ou Afro-Americano , Epigênese Genética , Comportamento Alimentar , Obesidade Infantil/genética , Polimorfismo de Nucleotídeo Único , Absorciometria de Fóton , Negro ou Afro-Americano/genética , Negro ou Afro-Americano/estatística & dados numéricos , Peso Corporal/genética , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Feminino , Genótipo , Humanos , Masculino , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Fenótipo , Fatores de Risco , Saciação , Inquéritos e Questionários , Estados Unidos/epidemiologia
9.
Minerva Gastroenterol Dietol ; 59(3): 313-20, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23867950

RESUMO

AIM: Liver fibrosis is often a possible evolution of chronic liver disease (CLD), with a risk of progression to cirrhosis. This study was designed to determine if the measure of apparent diffusion coefficient (ADC) is clinically accurate in the staging of fibrosis. METHODS: The study was conducted in the period 2008-2012. We recruited 84 patients with CLD. The control group included 67 patients whose laboratory, ultrasound and magnetic resonance imaging exams demonstrated liver's normal conditions. For ethical reasons, these patients did not undergo liver biopsy. Patients were examined using diffusion-weighted magnetic resonance imaging with a 1.5 Tesla magnet and with single shot echo-planar technique. Patients did undergo liver biopsy and the samples were evaluated with the Metavir score (F0-F4), Ishak score (0-6) and Brunt score (0-6). Patients were divided into three groups according to the different degree of fibrosis and the ADC was compared with U-test of Mann-Whitney. Moreover, it was used the analysis Receiver Operating Characteristic (ROC). RESULTS: A significant difference between group 1 (F0-F1) and group 3 (F3-F4) was found, with P=0.0024 and between group 2 (F2) and group 3, with P=0.027, but there was no significant difference of the ADC values in group 1 and group 2. CONCLUSION: The study showed a correlation between reduction of ADC and increasing of liver fibrosis degree. The ADC seems to be useful in staging liver fibrosis in patients with CLD, in particular to distinguish the later stages of fibrosis from early and intermediate stages.


Assuntos
Imagem de Difusão por Ressonância Magnética , Cirrose Hepática/diagnóstico , Adolescente , Adulto , Idoso , Doença Crônica , Feminino , Humanos , Cirrose Hepática/complicações , Hepatopatias/complicações , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
10.
Neurology ; 75(21): 1912-9, 2010 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-21098406

RESUMO

OBJECTIVE: Dysphagia is the main cause of aspiration pneumonia and death in Parkinson disease (PD) with no established restorative behavioral treatment to date. Reduced swallow safety may be related to decreased elevation and excursion of the hyolaryngeal complex. Increased submental muscle force generation has been associated with expiratory muscle strength training (EMST) and subsequent increases in hyolaryngeal complex movement provide a strong rationale for its use as a dysphagia treatment. The current study's objective was to test the treatment outcome of a 4-week device-driven EMST program on swallow safety and define the physiologic mechanisms through measures of swallow timing and hyoid displacement. METHODS: This was a randomized, blinded, sham-controlled EMST trial performed at an academic center. Sixty participants with PD completed EMST, 4 weeks, 5 days per week, for 20 minutes per day, using a calibrated or sham, handheld device. Measures of swallow function including judgments of swallow safety (penetration-aspiration [PA] scale scores), swallow timing, and hyoid movement were made from videofluoroscopic images. RESULTS: No pretreatment group differences existed. The active treatment (EMST) group demonstrated improved swallow safety compared to the sham group as evidenced by improved PA scores. The EMST group demonstrated improvement of hyolaryngeal function during swallowing, findings not evident for the sham group. CONCLUSIONS: EMST may be a restorative treatment for dysphagia in those with PD. The mechanism may be explained by improved hyolaryngeal complex movement. CLASSIFICATION OF EVIDENCE: This intervention study provides Class I evidence that swallow safety as defined by PA score improved post EMST.


Assuntos
Transtornos de Deglutição/etiologia , Transtornos de Deglutição/reabilitação , Deglutição , Inalação , Doença de Parkinson/fisiopatologia , Treinamento Resistido , Músculos Respiratórios/fisiopatologia , Idoso , Desenho de Equipamento , Expiração , Feminino , Humanos , Osso Hioide/fisiopatologia , Laringe/fisiopatologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Doença de Parkinson/complicações , Qualidade de Vida , Treinamento Resistido/instrumentação , Segurança , Método Simples-Cego
11.
NeuroRehabilitation ; 24(2): 131-44, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19339752

RESUMO

The purpose of this study was to: (1) define perceptual speech characteristics of idiopathic Parkinson disease (IPD) across 35 speech dimensions adapted from Darley et al. [19] and grouped under six speech-sign clusters (respiration, phonation, resonance, articulation, prosody and rate); (2) examine the effects of levodopa on the 35 perceptual speech dimensions and speech-sign clusters; and (3) to compare the relative effectiveness of levodopa on global motor functioning vs. speech production. Sixteen patients with IPD read the 'Grandfather Passage' both 'on' and 'off' levodopa. Three blinded speech-language pathologists performed perceptual speech analyses using a seven-point scale. The diagnosis of IPD was made by a movement disorders fellowship trained neurologist who applied UK Brain bank criteria and administered the Unified Parkinson Disease Rating Scale. Concordant with previous studies, the results of this experiment indicated that IPD disrupted multiple speech production subsystems, with prosody being the most severely affected domain. The perceptual dimensions that were most severely affected included: (1) sound imprecision; (2) mono-loudness; (3) mono-pitch; (4) reduced stress and (5) harsh voice. No significant differences were obtained between medicated states ('on'/'off') for any of the 35 individual speech dimensions and speech-sign clusters. Global motor function significantly improved following dopaminergic medications.


Assuntos
Antiparkinsonianos/farmacologia , Doença de Parkinson/fisiopatologia , Doença de Parkinson/reabilitação , Fala/efeitos dos fármacos , Idoso , Feminino , Humanos , Levodopa/farmacologia , Masculino , Pessoa de Meia-Idade , Espectrografia do Som , Acústica da Fala , Inteligibilidade da Fala/efeitos dos fármacos , Qualidade da Voz/efeitos dos fármacos
12.
Neurorehabil Neural Repair ; 21(3): 239-49, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17351085

RESUMO

PURPOSE: This study investigated the effect of expiratory muscle strength training (EMST) on voice production, dysarthria, and voice-related quality-of-life issues in persons with multiple sclerosis (PwMS). It was hypothesized that PwMS would have improved voice production and reduced voice-related quality-of-life issues following EMST. PARTICIPANTS AND METHODS: Seventeen participants with MS and 14 healthy (H) controls completed 8 weeks of EMST, followed by 4 weeks of no training. Analyzed outcomes as a function of EMST were maximal expiratory pressure (MEP), sustained vowel prolongation (SVP), words per minute (WPM) measured from connected speech, and quality-of-life indices related to the presence of the dysarthria and dysphonia. RESULTS: PwMS had lower MEPs, shorter SVP, and less WPM than the controls prior to training. Following EMST, both groups had significant improvement in MEPs that stayed above baseline after training halted. EMST did not improve voice production or voice-related quality of life for PwMS. CONCLUSION: Respiratory muscle weakness is present in PwMS having mild- to moderate-level disability. EMST improved expiratory muscle strength but did not statistically change objective and subjective components of voice/speech production in PwMS.


Assuntos
Disartria/reabilitação , Expiração/fisiologia , Esclerose Múltipla/reabilitação , Fonoterapia/métodos , Fala/fisiologia , Adulto , Avaliação da Deficiência , Disartria/etiologia , Disartria/fisiopatologia , Feminino , Humanos , Masculino , Fluxo Expiratório Máximo/fisiologia , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Esclerose Múltipla/fisiopatologia , Qualidade de Vida , Músculos Respiratórios/fisiologia , Índice de Gravidade de Doença , Acústica da Fala , Qualidade da Voz/fisiologia
13.
Genetics ; 159(3): 1179-89, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11729161

RESUMO

Speciation is often accompanied by changes in chromosomal number or form even though such changes significantly reduce the fertility of hybrid intermediates. We have addressed this evolutionary paradox by expanding the principle that nonrandom segregation of chromosomes takes place whenever human or mouse females are heterozygous carriers of Robertsonian translocations, a common form of chromosome rearrangement in mammals. Our analysis of 1170 mammalian karyotypes provides strong evidence that karyotypic evolution is driven by nonrandom segregation during female meiosis. The pertinent variable in this form of meiotic drive is the presence of differing numbers of centromeres on paired homologous chromosomes. This situation is encountered in all heterozygous carriers of Robertsonian translocations. Whenever paired chromosomes have different numbers of centromeres, the inherent asymmetry of female meiosis and the polarity of the meiotic spindle dictate that the partner with the greater number of centromeres will attach preferentially to the pole that is most efficient at capturing centromeres. This mechanism explains how chromosomal variants become fixed in populations, as well as why closely related species often appear to have evolved by directional adjustment of the karyotype toward or away from a particular chromosome form. If differences in the ability of particular DNA sequences or chromosomal regions to function as centromeres are also considered, nonrandom segregation is likely to affect karyotype evolution across a very broad phylogenetic range.


Assuntos
Evolução Molecular , Animais , Galinhas , Cromossomos/ultraestrutura , Diploide , Genética Populacional , Humanos , Cariotipagem , Camundongos , Modelos Genéticos , Filogenia , Especificidade da Espécie
14.
J Voice ; 15(3): 362-72, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11575633

RESUMO

Speech of patients with abductor spasmodic dysphonia (ABSD) was analyzed using acoustic analyses to determine: (1) which acoustic measures differed from controls and were independent factors representing patients' voice control difficulties, and (2) whether acoustic measures related to blinded perceptual counts of the symptom frequency in the same patients. Patients' voice onset time for voiceless consonants in speech were significantly longer than the controls (p = 0.015). A principle components analysis identified three factors that accounted for 95% of the variance: the first factor included sentence and word duration, frequency shifts, and aperiodic instances; the second was phonatory breaks; and the third was voice onset time. Significant relationships with perceptual counts of symptoms were found for the measures of acoustic disruptions in sentences and sentence duration. Finally, a multiple regression demonstrated that the acoustic measures related well with the perceptual counts (r2 = 0.84) with word duration most highly related and none of the other measures contributing once the effect of word duration was partialed out. The results indicate that some of the voice motor control deficits, namely aperiodicity, phonatory breaks, and frequency shifts, which occur in patients with ABSD, are similar to those previously found in adductor spasmodic dysphonia. Results also indicate that acoustic measures of intermittent disruptions in speech, voice onset time, and speech duration are closely related to the perception of symptom frequency in the disorder.


Assuntos
Músculos Laríngeos/fisiopatologia , Espasticidade Muscular/fisiopatologia , Acústica da Fala , Distúrbios da Voz/fisiopatologia , Adulto , Toxinas Botulínicas Tipo A/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/tratamento farmacológico , Espasticidade Muscular/epidemiologia , Fármacos Neuromusculares/uso terapêutico , Variações Dependentes do Observador , Distúrbios da Voz/tratamento farmacológico , Distúrbios da Voz/epidemiologia , Qualidade da Voz
15.
J Speech Lang Hear Res ; 44(4): 793-802, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11521772

RESUMO

Adductor spasmodic dysphonia (ADSD) is an idiopathic focal laryngeal movement disorder causing involuntary and uncontrollable spasms in the vocal fold musculature, primarily during voice onset. Although phonatory instability has been reported through clinical observation and empirical study, no examination of phonatory performance consistency in ADSD has been done. Phonatory instability refers to phonatory unsteadiness and has been previously defined by the presence of acoustic aberrations during speech. Performance consistency pertains to variations in these phonatory aberrations across repeated trials or over time. This study focused on the phonatory performance consistency of those with ADSD by using three acoustic measures of phonatory instability. Twenty patients with ADSD were recorded during three trials of reading a standard passage. Eight of the 20 patients were recorded twice during two separate recording sessions held approximately 6 months apart. The number of phonatory breaks, frequency shifts, and aperiodic segments were the dependent measures. Data were subjected to inferential statistical analysis to test for significant differences among the measures in two conditions: across three trials produced within one recording session and across multiple trials produced during two distinct recording sessions. No significant differences were found for any of the measures either as a function of trials recorded on the same day or across the two recording sessions. The data suggest a need for describing phonatory instability and performance consistency as separate entities with regard to neurological voice disorders.


Assuntos
Músculos Laríngeos/fisiopatologia , Espasmo/fisiopatologia , Distúrbios da Voz/diagnóstico , Distúrbios da Voz/fisiopatologia , Qualidade da Voz , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Fatores de Tempo
17.
Mamm Genome ; 12(5): 331-9, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11331939

RESUMO

Most geneticists assume that chromosome segregation during meiosis is Mendelian (i.e., each allele at each locus is represented equally in the gametes). The great majority of reports that discuss non-Mendelian transmission have focused on systems of gametic selection, such as the mouse t-haplotype and Segregation distorter in Drosophila, or on systems in which post-fertilization selection takes place. Because the segregation of chromosomes in such systems is Mendelian and unequal representation of alleles among offspring is achieved through gamete dysfunction or embryonic death, there is a common perception that true disturbances in the randomness of chromosome segregation are rare and of limited biological significance. In this review we summarize data on nonrandom segregation in a wide variety of genetic systems. Despite apparent differences between some systems, the basic requirements for nonrandom segregation can be deduced from their shared characteristics: i) asymmetrical meiotic division(s); ii) functional asymmetry of the meiotic spindle poles; and iii) functional heterozygosity at a locus that mediates attachment of a chromosome to the spindle. The frequency with which all three of these requirements are fulfilled in natural populations is unknown, but our analyses indicate that nonrandom segregation occurs with sufficient frequency during female meiosis, and in exceptional cases of male meiosis, that it has important biological, clinical, and evolutionary consequences.


Assuntos
Segregação de Cromossomos/genética , Meiose/genética , Animais , Evolução Biológica , Feminino , Heterozigoto , Humanos , Modelos Genéticos , Seleção Genética , Fuso Acromático/fisiologia
19.
Hum Genet ; 108(1): 31-6, 2001 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11214904

RESUMO

Robertsonian translocations are the most common structural rearrangements of human chromosomes. Although segregation of Robertsonian chromosomes has been examined in many families, there is little consensus on whether inheritance in the balanced progeny conforms to Mendelian ratios. To address this question, we have compiled previously reported segregation data, by sex of parent, for 677 balanced offspring of Robertsonian carriers from 82 informative families and from a prenatal diagnosis study on the risk of unbalanced offspring in carriers of chromosome rearrangements. Care was taken to avoid any source of ascertainment bias. Our analysis supports the following conclusions: (1) the transmission ratio is not independent of the sex of the carrier; (2) the transmission ratio distortion is observed consistently only among the offspring of carrier females; (3) the transmission ratio distortion does not appear to be dependent on the presence of a specific acrocentric chromosome in the rearrangement. The sex-of-parent-specific origin of the non-Mendelian inheritance, the finding that the rearranged ("mutant") chromosomes are recovered at significantly higher frequency than the acrocentric ("normal") chromosomes, and the similarities between these observations and the segregation of analogous rearrangements through female meiosis in other vertebrates strongly support the hypothesis that the transmission ratio distortion in favor of Robertsonian translocations in the human results from the preferential segregation of chromosomes during the first meiotic division. This non-Mendelian inheritance will result in increased overall risk of aneuploidies in the families of Robertsonian translocation carriers, independently of the origin of the transmission ratio distortion.


Assuntos
Heterozigoto , Translocação Genética , Segregação de Cromossomos , Feminino , Humanos , Transmissão Vertical de Doenças Infecciosas
20.
J Voice ; 15(1): 25-35, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12269632

RESUMO

This study investigated selected acoustic cues in the speaking voices of five professional singers; cues that may have enabled naïve listeners to differentiate them from nonsingers and other trained singers who were not consistently identified from their speaking voices. Subjects were divided into three groups based on listeners' perceptual judgments. Group I, the identified singers, consisted of five professional singers, three males and two females, with an average identification score, from their speaking utterances, of 79%. Group II, the unidentified singers, consisted of 15 trained singers, seven males and eight females, who, as a group, were identified correctly from their speaking utterances only 52% of the time. Group III consisted of 20 nonsingers who were incorrectly identified from their speaking utterances as singers only 36% of the time, that is, they were correctly identified as nonsingers from their speech 64% of the time. Acoustic parameters chosen for measurement from vowel productions were: (1) percent jitter, (2) percent shimmer, and (3) noise-to-harmonic ratio. The second sentence of the "Rainbow Passage" was selected to compare several frequency and duration measures between the three groups. These were: (1) mean speaking fundamental frequency, (2) standard deviation of the fundamental frequency, (3) sentence duration, (4) word duration, and (5) consonant/vowel ratio. The data indicated that the acoustic parameters that most consistently distinguished the identified singers from the unidentified singers and the nonsingers were fundamental frequency variation and durational differences. The identified singers varied their speaking fundamental frequency significantly more than did both the unidentified singers and the nonsingers. The identified singers also had longer vocalic segments than did the others.


Assuntos
Acústica da Fala , Percepção da Fala , Fala/fisiologia , Treinamento da Voz , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade da Voz
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