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1.
Proc Biol Sci ; 287(1932): 20201286, 2020 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-32752988

RESUMO

Spermatozoa are the most morphologically diverse cell type, leading to the widespread assumption that they evolve rapidly. However, there is no direct evidence that sperm evolve faster than other male traits. Such a test requires comparing male traits that operate in the same selective environment, ideally produced from the same tissue, yet vary in function. Here, we examine rates of phenotypic evolution in sperm morphology using two insect groups where males produce fertile and non-fertile sperm types (Drosophila species from the obscura group and a subset of Lepidoptera species), where these constraints are solved. Moreover, in Drosophila we test the relationship between rates of sperm evolution and the link with the putative selective pressures of fertilization function and postcopulatory sexual selection exerted by female reproductive organs. We find repeated evolutionary patterns across these insect groups-lengths of fertile sperm evolve faster than non-fertile sperm. In Drosophila, fertile sperm length evolved faster than body size, but at the same rate as female reproductive organ length. We also compare rates of evolution of different sperm components, showing that head length evolves faster in fertile sperm while flagellum length evolves faster in non-fertile sperm. Our study provides direct evidence that sperm length evolves more rapidly in fertile sperm, probably because of their functional role in securing male fertility and in response to selection imposed by female reproductive organs.


Assuntos
Evolução Biológica , Espermatozoides/fisiologia , Animais , Drosophila/fisiologia , Feminino , Fertilização , Masculino
2.
Nature ; 498(7454): 338-41, 2013 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-23698363

RESUMO

Stellar archaeology shows that massive elliptical galaxies formed rapidly about ten billion years ago with star-formation rates of above several hundred solar masses per year. Their progenitors are probably the submillimetre bright galaxies at redshifts z greater than 2. Although the mean molecular gas mass (5 × 10(10) solar masses) of the submillimetre bright galaxies can explain the formation of typical elliptical galaxies, it is inadequate to form elliptical galaxies that already have stellar masses above 2 × 10(11) solar masses at z ≈ 2. Here we report multi-wavelength high-resolution observations of a rare merger of two massive submillimetre bright galaxies at z = 2.3. The system is seen to be forming stars at a rate of 2,000 solar masses per year. The star-formation efficiency is an order of magnitude greater than that of normal galaxies, so the gas reservoir will be exhausted and star formation will be quenched in only around 200 million years. At a projected separation of 19 kiloparsecs, the two massive starbursts are about to merge and form a passive elliptical galaxy with a stellar mass of about 4 × 10(11) solar masses. We conclude that gas-rich major galaxy mergers with intense star formation can form the most massive elliptical galaxies by z ≈ 1.5.

3.
Nature ; 496(7445): 329-33, 2013 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-23598341

RESUMO

Massive present-day early-type (elliptical and lenticular) galaxies probably gained the bulk of their stellar mass and heavy elements through intense, dust-enshrouded starbursts--that is, increased rates of star formation--in the most massive dark-matter haloes at early epochs. However, it remains unknown how soon after the Big Bang massive starburst progenitors exist. The measured redshift (z) distribution of dusty, massive starbursts has long been suspected to be biased low in z owing to selection effects, as confirmed by recent findings of systems with redshifts as high as ~5 (refs 2-4). Here we report the identification of a massive starburst galaxy at z = 6.34 through a submillimetre colour-selection technique. We unambiguously determined the redshift from a suite of molecular and atomic fine-structure cooling lines. These measurements reveal a hundred billion solar masses of highly excited, chemically evolved interstellar medium in this galaxy, which constitutes at least 40 per cent of the baryonic mass. A 'maximum starburst' converts the gas into stars at a rate more than 2,000 times that of the Milky Way, a rate among the highest observed at any epoch. Despite the overall downturn in cosmic star formation towards the highest redshifts, it seems that environments mature enough to form the most massive, intense starbursts existed at least as early as 880 million years after the Big Bang.

4.
Int J Sports Med ; 34(7): 573-81, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23296399

RESUMO

The aim of this study was to determine the external validity of Taekwondo-specific exercise protocols. 10 male international Taekwondo competitors (age 18±2 years) took part in a championship combat and an exercise protocol that simulated the activity pattern of Taekwondo combat. Heart rate and venous blood samples were obtained in both settings. Despite similarity in the activity profiles, the championship Taekwondo combats elicited higher (p<0.05) heart rate (188±8 beats.min - 1), plasma lactate (12.2±4.6 mmol.L - 1), glucose (10.3±1.1 mmol.L - 1), -glycerol (143.4±49.4 µmol.L - 1), -adrena-line (2.7±1.7 nmol.L - 1) and noradrenaline (14.3±9.4 nmol.L - 1) responses than the -Taekwondo exercise protocol (heart rate: 172±4 beats.min - 1; plasma lactate: 3.6±2.7 mmol.L - 1; glucose: 5.9±0.8 mmol.L - 1; glycerol: 77.7±21.3 µmol.L - 1; adrenaline: 0.6±0.2 nmol.L - 1 and noradrenaline: 3.0±1.1 nmol.L - 1). This discrepancy in the physiological responses appeared to be mediated by a reduced stress response in the Taekwondo exercise protocol. These findings suggest that Taekwondo-specific exercise protocols are not appropriate to study the physiological demands of Taekwondo. -Strategies designed to increase the stress response in this setting may be necessary to improve the external validity of this experimental framework.


Assuntos
Desempenho Atlético/fisiologia , Comportamento Competitivo/fisiologia , Teste de Esforço/métodos , Artes Marciais/fisiologia , Adolescente , Frequência Cardíaca/fisiologia , Humanos , Masculino , Estresse Psicológico/metabolismo , Adulto Jovem
5.
Mol Ecol ; 19(16): 3351-63, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20666996

RESUMO

Eusociality is widely considered a major evolutionary transition. The socially polymorphic sweat bee Halictus rubicundus, solitary in cooler regions of its Holarctic range and eusocial in warmer parts, is an excellent model organism to address this transition, and specifically the question of whether sociality is associated with a strong barrier to gene flow between phenotypically divergent populations. Mitochondrial DNA (COI) from specimens collected across the British Isles, where both solitary and social phenotypes are represented, displayed limited variation, but placed all specimens in the same European lineage; haplotype network analysis failed to differentiate solitary and social lineages. Microsatellite genetic variability was high and enabled us to quantify genetic differentiation among populations and social phenotypes across Great Britain and Ireland. Results from conceptually different analyses consistently showed greater genetic differentiation between geographically distant populations, independently of their social phenotype, suggesting that the two social forms are not reproductively isolated. A landscape genetic approach revealed significant isolation by distance (Mantel test r = 0.622, P < 0.001). The Irish Sea acts as physical barrier to gene flow (partial Mantel test r = 0.453, P < 0.01), indicating that geography, rather than expression of solitary or social behaviour (partial Mantel test r = -0.238, P = 0.053), had a significant effect on the genetic structure of H. rubicundus across the British Isles. Although we cannot reject the hypothesis of a genetic underpinning to differences in solitary and eusocial phenotypes, our data clearly demonstrate a lack of reproductive isolation between the two social forms.


Assuntos
Abelhas/genética , Fluxo Gênico , Genética Populacional , Comportamento Social , Animais , Teorema de Bayes , Análise por Conglomerados , DNA Mitocondrial/genética , Feminino , Variação Genética , Haplótipos , Irlanda , Repetições de Microssatélites , Fenótipo , Alinhamento de Sequência , Análise de Sequência de DNA , Reino Unido
6.
Med Image Anal ; 37: 22-36, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28104551

RESUMO

Confirmation of pregnancy viability (presence of fetal cardiac activity) and diagnosis of fetal presentation (head or buttock in the maternal pelvis) are the first essential components of ultrasound assessment in obstetrics. The former is useful in assessing the presence of an on-going pregnancy and the latter is essential for labour management. We propose an automated framework for detection of fetal presentation and heartbeat from a predefined free-hand ultrasound sweep of the maternal abdomen. Our method exploits the presence of key anatomical sonographic image patterns in carefully designed scanning protocols to develop, for the first time, an automated framework allowing novice sonographers to detect fetal breech presentation and heartbeat from an ultrasound sweep. The framework consists of a classification regime for a frame by frame categorization of each 2D slice of the video. The classification scores are then regularized through a conditional random field model, taking into account the temporal relationship between the video frames. Subsequently, if consecutive frames of the fetal heart are detected, a kernelized linear dynamical model is used to identify whether a heartbeat can be detected in the sequence. In a dataset of 323 predefined free-hand videos, covering the mother's abdomen in a straight sweep, the fetal skull, abdomen, and heart were detected with a mean classification accuracy of 83.4%. Furthermore, for the detection of the heartbeat an overall classification accuracy of 93.1% was achieved.


Assuntos
Feto/diagnóstico por imagem , Apresentação no Trabalho de Parto , Ultrassonografia Pré-Natal/métodos , Algoritmos , Feminino , Frequência Cardíaca Fetal , Humanos , Gravidez , Sensibilidade e Especificidade
7.
Biotechniques ; 31(1): 142-5, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11464507

RESUMO

A novel DNA purification technology is described that enables the purification of pure dsDNA from blood. When compared to existing DNA purification methods, the Whatman BioScience Purification System (WBPS) offers a fast and convenient way to recover high yields of DNA. WBPS is based on a unique filter system that entraps DNA within a matrix. This allows the process to be performed in a single unidirectional reaction vessel, reducing user interaction and multiple centrifugation steps.


Assuntos
DNA/isolamento & purificação , Biologia Molecular/instrumentação , Biologia Molecular/métodos , Filtração/instrumentação , Filtração/métodos , Genoma Humano , Humanos , Leucócitos
8.
Cochrane Database Syst Rev ; (4): CD003042, 2004 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-15495040

RESUMO

BACKGROUND: Cardiac tamponade may occur following cardiac surgery as a result of blood or fluid collecting in the pericardial space compressing the heart and reducing cardiac output. Mediastinal chest drains (including pericardial drains) are inserted as standard post-operative practice following cardiac surgery to assist the clearance of blood from the pericardial space and to prevent cardiac tamponade. To prevent chest tubes from blocking and so causing tamponade nurses manipulate them to prevent or remove clots. Manipulation methods including milking, stripping, fanfolding and tapping may be applied to the tubes to keep them from blocking. Evidence is required as to the safest and most effective means of preventing chest tube blockage and preventing cardiac tamponade. OBJECTIVES: To compare different methods of chest drain clearance (i.e. varying levels of suction or suction in combination with milking, stripping, fanfolding and tapping of chest drains) in preventing cardiac tamponade in patients following cardiac surgery. SEARCH STRATEGY: Over both the initial review and the 2004 revision, we searched the Cochrane Heart Group trials register, the Cochrane Controlled Trials Register (CCTR) (Issue 4, 2003) The Cochrane Database of Systematic Reviews (CDSR), the Database of Abstracts of Reviews of Effectiveness (DARE), Issue 4, 2003, MEDLINE (1966 to Nov Week 2, 2003), EMBASE (1980 to 2003 Week 47), CINAHL (1982 to Nov 2003), the Clinical Trials site of the NIH, (USA) (24.11.03) and reference lists of articles. SELECTION CRITERIA: Randomised, quasi-randomised or systematically allocated clinical trials of chest tube manipulation methods in adults and children with mediastinal chest drains following cardiac surgery were included. DATA COLLECTION AND ANALYSIS: Two reviewers independently assessed trial quality and extracted data. Study authors were contacted for additional information where required. Adverse effects information was collected from the trials. MAIN RESULTS: Three studies with a total of 471 participants were included. There was no data, however, which could be included in a meta-analysis. This was due to inadequate data provision by two of the studies. Where adequate data were provided there were no common interventions or outcomes to pool. On the basis of single studies there was no evidence of a difference between groups on incidence of chest tube blockage, heart rate, cardiac tamponade or incidence of surgical re-entry. REVIEWERS' CONCLUSIONS: There are insufficient studies which compare differing methods of chest drain clearance to support or refute the relative efficacy of the various methods in preventing cardiac tamponade. Nor can the need to manipulate chest drains be supported or refuted by results from RCT's.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Tamponamento Cardíaco/prevenção & controle , Tubos Torácicos , Complicações Pós-Operatórias/prevenção & controle , Drenagem , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
9.
Cochrane Database Syst Rev ; (2): CD003042, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12076468

RESUMO

BACKGROUND: Cardiac tamponade may occur following cardiac surgery as a result of blood or fluid collecting in the pericardial space compressing the heart and reducing cardiac output. Mediastinal chest drains (including pericardial drains) are inserted as standard post-operative practice following cardiac surgery to assist the clearance of blood from the pericardial space and to prevent cardiac tamponade. Manipulation techniques including milking, stripping, fanfolding and tapping may be applied to the tubes to keep them from blocking. Evidence is required as to the safest and most effective means of preventing chest tube blockage and preventing cardiac tamponade. OBJECTIVES: To compare different methods of chest drain clearance (i.e. varying levels of suction or suction in combination with milking, stripping, fanfolding and tapping of chest drains) in preventing cardiac tamponade in patients following cardiac surgery. SEARCH STRATEGY: We searched the Cochrane Heart Group specialised register, the Cochrane Controlled Trials Register (CCTR) (Issue 1, 2001) The Cochrane Database of Systematic Reviews (CDSR), the Database of Abstracts of Reviews of Effectiveness (DARE), Issue 1, 2001, MEDLINE (1966 to May Week 1, 2001), EMBASE (1980 to 2001 Week 35), CINAHL (1982 to March 2001), the Clinical Trials site of the NIH, (USA) (10.09.01) and reference lists of articles. SELECTION CRITERIA: Randomised, quasi-randomised or systematically allocated clinical trials of chest tube manipulation techniques in adults and children with mediastinal chest drains following cardiac surgery were included. DATA COLLECTION AND ANALYSIS: Two reviewers independently assessed trial quality and extracted data. Study authors were contacted for additional information where required. Adverse effects information was collected from the trials. MAIN RESULTS: Three studies with a total of 471 participants were included. There was no data, however, which could be included in a meta-analysis. This was due to inadequate data provision by two of the studies and where adequate data were provided there were no common interventions or outcomes to pool. On the basis of single studies there was no difference between groups on incidence of chest tube blockage, heart rate, cardiac tamponade or incidence of surgical re-entry. REVIEWER'S CONCLUSIONS: There are insufficient studies which compare differing methods of chest drain clearance to support or refute the relative efficacy of the various techniques in preventing cardiac tamponade. Nor can the need to manipulate chest drains be supported or refuted by results from RCT's.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Tamponamento Cardíaco/prevenção & controle , Tubos Torácicos , Complicações Pós-Operatórias/prevenção & controle , Drenagem , Humanos
10.
Med Law Int ; 3(1): 51-74, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-16121441

RESUMO

Although English law recognises that developing adolescents may acquire the capacity to make decisions about medical treatment themselves it does not address the problem of mentally disturbed or disordered adolescents. This article examines the nature of adolescent refusal of treatment and suggests that a line be drawn between three categories of adolescent disturbance--the competent young person who refuses treatment that an adult too may refuse, the rebellious teenager whose refusal is triggered by simple teenage angst, and the mentally ill teenager whose refusal is triggered by mental illness. It suggests that adolescent autonomy needs to be more fully understood and the Mental Health Act more readily used in treating young people.


Assuntos
Adolescente , Legislação Médica , Pessoas Mentalmente Doentes/legislação & jurisprudência , Menores de Idade/legislação & jurisprudência , Recusa do Paciente ao Tratamento/legislação & jurisprudência , Comportamento do Adolescente , Criança , Coerção , Humanos , Consentimento Livre e Esclarecido , Competência Mental , Transtornos Mentais , Autonomia Pessoal , Recusa do Paciente ao Tratamento/psicologia , Reino Unido
11.
Prof Nurse ; 10(1): 8-13, 1994 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-7526404

RESUMO

1. There is a need for increased educational input for thoracic surgical patients. 2. Information and health education are important aspects of holistic care. 3. Care plans should aim to help the patient regain and maintain a level of independence. 4. Discharge planning should ideally begin prior to admission for surgery.


Assuntos
Educação de Pacientes como Assunto , Enfermagem Perioperatória/normas , Cirurgia Torácica/enfermagem , Humanos , Alta do Paciente , Cirurgia Torácica/reabilitação
12.
Horm Res Paediatr ; 79(6): 333-40, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23735642

RESUMO

OBJECTIVE: Evaluate clinical outcome of early cyclic intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta (OI), commenced before three years of age. METHODS: A retrospective review of 17 patients with moderate-to-severe OI. Development, anthropometry, fracture history, bone mineral density (BMD) and biochemistry were collected at baseline, 12 and 24 months. RESULTS: Four had OI type I, eleven had type III, one OI-FKBP10 type and one OI type V. Mean age at start of pamidronate was 14 ± 11 months. Pamidronate ranged from 6 to 12 mg/kg/year. No adverse reaction apart from fever and vomiting was noted. Long bone fracture decreased from a mean of 10.4/year to 1.2/year after 12 months and 1.4/year after 24 months (p = 0.02). Lumbar spine age- and height-matched BMD Z-scores increased (p < 0.005). Sixteen with vertebral compression fractures at baseline all showed improved vertebral shape (p < 0.001). Concavity index, likewise, improved (p < 0.005). Motor milestones compared to historical data show earlier attainment in rolling over, crawling, pulling to stand and walking independently but not sitting. CONCLUSION: Cyclic intravenous pamidronate, started under 3 years of age in children with moderate-to-severe OI, was well tolerated and associated with an increase in lumbar spine BMD, reduced fracture frequency, vertebral remodelling and attainment of motor milestones at an earlier age.


Assuntos
Conservadores da Densidade Óssea/administração & dosagem , Difosfonatos/administração & dosagem , Fraturas Ósseas/prevenção & controle , Osteogênese Imperfeita/tratamento farmacológico , Densidade Óssea , Pré-Escolar , Feminino , Humanos , Lactente , Infusões Intravenosas , Vértebras Lombares/anatomia & histologia , Vértebras Lombares/fisiologia , Masculino , Destreza Motora , Pamidronato , Estudos Retrospectivos
13.
Front Oncol ; 3: 62, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23565501

RESUMO

Gliomas are notoriously aggressive, malignant brain tumors that have variable response to treatment. These patients often have poor prognosis, informed primarily by histopathology. Mathematical neuro-oncology (MNO) is a young and burgeoning field that leverages mathematical models to predict and quantify response to therapies. These mathematical models can form the basis of modern "precision medicine" approaches to tailor therapy in a patient-specific manner. Patient-specific models (PSMs) can be used to overcome imaging limitations, improve prognostic predictions, stratify patients, and assess treatment response in silico. The information gleaned from such models can aid in the construction and efficacy of clinical trials and treatment protocols, accelerating the pace of clinical research in the war on cancer. This review focuses on the growing translation of PSM to clinical neuro-oncology. It will also provide a forward-looking view on a new era of patient-specific MNO.

14.
J Sports Sci ; 24(4): 433-9, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16492607

RESUMO

The aim of this study was to assess the effect of caffeine ingestion on 8 km run performance using an ecologically valid test protocol. A randomized double-blind crossover study was conducted involving eight male distance runners. The participants ran an 8 km race 1 h after ingesting a placebo capsule, a caffeine capsule (3 mg x kg(-1) body mass) or no supplement. Heart rate was recorded at 5 s intervals throughout the race. Blood lactate concentration and ratings of perceived exertion were recorded after exercise. A repeated-measures analysis of variance (ANOVA) identified a significant treatment effect for 8 km performance time (P < 0.05); caffeine resulted in a mean improvement of 23.8 s (95% confidence interval [CI] = 13.1 to 34.5 s) in 8 km performance time (1.2% improvement, 95% CI = 0.7 to 1.8%). In addition, a two-way (time x condition) repeated-measures ANOVA identified a significantly higher blood lactate concentration 3 min after exercise during the caffeine trial (P < 0.05). We conclude that ingestion of 3 mg . kg(-1) body mass of caffeine can improve absolute 8 km run performance in an ecologically valid race setting.


Assuntos
Cafeína/administração & dosagem , Estimulantes do Sistema Nervoso Central/administração & dosagem , Resistência Física/efeitos dos fármacos , Corrida/fisiologia , Adulto , Índice de Massa Corporal , Estudos Cross-Over , Método Duplo-Cego , Frequência Cardíaca/efeitos dos fármacos , Humanos , Lactatos/metabolismo , Masculino , Consumo de Oxigênio/fisiologia , Esforço Físico , Probabilidade , Valores de Referência , Atletismo
15.
Aust Coll Midwives Inc J ; 12(3): 7-11, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10754815

RESUMO

Australian Aboriginal women have twice the number of still born babies as Australian non Aboriginal women and have babies who are five times more likely to die within the neonatal period. The perinatal mortality rate is three times higher and the infant mortality is more than five times the overall rate for babies of Australian Aboriginal women compared to Australian non Aboriginal women. These are the stark statistics compiled by the Midwives' Notification System in Western Australia (1998).


Assuntos
Atitude Frente a Saúde/etnologia , Trabalho de Parto/etnologia , Serviços de Saúde Materna/organização & administração , Tocologia/organização & administração , Havaiano Nativo ou Outro Ilhéu do Pacífico/psicologia , Enfermeiros Obstétricos/organização & administração , Adulto , Características Culturais , Feminino , Humanos , Gravidez , Enfermagem Transcultural , Austrália Ocidental
16.
Br Med J ; 2(6191): 635-8, 1979 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-497752

RESUMO

Up to the end of 1978 the Willink Biochemical Genetics Unit had screened 506821 babies for metabolic abnormalities over 10 years--98-99% of the children born in the region. Sixty-nine cases of phenylketonuria (PKU), 42 cases of histidinaemia, and six cases of homocystinuria were detected. As well as treating affected children, the staff of the unit have concentrated on providing full support for their families and maintaining good communications with parents, general practitioners, health visitors, and midwives. A clinic liaison sister has provided valuable support for health visitors and an important link between the unit and community services. A study of the costs of screening and treating cases of PKU for the year 1978 showed that this was cheaper, by pound 569000, than the costs of looking after patients with untreated PKU.


Assuntos
Programas de Rastreamento/organização & administração , Erros Inatos do Metabolismo/epidemiologia , Criança , Pré-Escolar , Comunicação , Enfermagem em Saúde Comunitária , Custos e Análise de Custo , Inglaterra , Feminino , Histidina/sangue , Homocistinúria/epidemiologia , Homocistinúria/terapia , Humanos , Lactente , Laboratórios/organização & administração , Masculino , Programas de Rastreamento/economia , Enfermeiras e Enfermeiros , Fenilcetonúrias/dietoterapia , Fenilcetonúrias/epidemiologia
17.
Eur J Pediatr ; 157 Suppl 2: S71-6, 1998 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9587030

RESUMO

Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3) giving betaine in order to utilise alternative pathways to remove homocyst(e)ine. In our experience of over 30 years in the diagnosis and management of patients with CBS deficiency, a normal outcome can only be achieved in patients diagnosed and treated from infancy. Pyridoxine combined with folic acid prevents further deterioration in pyridoxine responsive patients. Dietary treatment of patients with non-pyridoxine responsive CBS deficiency becomes more difficult outside childhood but since late complications are not uncommon must be continued for life. Betaine can be effective in this group but compliance is often poor.


Assuntos
Cistationina beta-Sintase/deficiência , Homocistinúria/terapia , Adolescente , Adulto , Betaína/uso terapêutico , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Ácido Fólico/uso terapêutico , Fármacos Gastrointestinais/uso terapêutico , Testes Genéticos , Homocisteína/metabolismo , Homocistinúria/dietoterapia , Homocistinúria/tratamento farmacológico , Homocistinúria/genética , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez , Piridoxina/administração & dosagem , Piridoxina/uso terapêutico , Falha de Tratamento , Resultado do Tratamento
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