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1.
Vaccine ; 42(2): 322-331, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38072757

RESUMO

BACKGROUND: We examined the association between socio-demographic determinants and uptake of childhood Measles, Mumps & Rubella (MMR) vaccines and the association between pregnant women's pertussis vaccine uptake and their children's MMR vaccine uptake. METHODS: We used nationally-representative linked mother-baby electronic records from the United Kingdom's Clinical-Practice-Research-Datalink. We created a birth cohort of children born between 01.01.2000 and 12.12.2020. We estimated the proportion vaccinated with first MMR vaccine by age 2 years and first and second MMR vaccines by age 5 years. We used survival-analysis and Cox proportional hazard models to examine the association between deprivation, ethnicity and maternal age and pertussis vaccination in pregnancy and children's MMR uptake. RESULTS: Overall, 89.4 % (710,797/795,497) of children had first MMR by age 2 years and 92.6 % (736,495/795,497) by age 5 years. Among children still in the cohort when second MMR was due, 85.9 % (478,480/557,050) had two MMRs by age 5 years. Children from the most-deprived areas, children of Black ethnicity and children of mothers aged < 20 years had increased risk of being unvaccinated compared with children from the least-deprived areas, White children and children of mothers aged 31-40 years: first MMR by 5 years, adjusted Hazard Ratios (HR):0.86 (CI:0.85-0.87), HR:0.87 (CI:0.85-0.88) & HR:0.89 (CI:0.88-0.90) respectively. Deprivation was the determinant associated with the greatest risk of missed second MMR: adjusted HR:0.82 (CI:0.81-0.83). Children of mothers vaccinated in pregnancy were more likely than children of unvaccinated mothers to have MMR vaccines after adjusting for ethnicity, deprivation, and maternal age (First and Second MMRs adjusted HRs:1.43 (CI:1.41-1.45), 1.49 (CI:1.45-1.53). CONCLUSION: Children from most-deprived areas are less likely to have MMR vaccines compared with children from least-deprived areas. Mothers who take up pregnancy vaccines are more likely to have their children vaccinated with MMR. Healthcare services should promote and facilitate access to both maternal and childhood vaccines during pregnancy.


Assuntos
Sarampo , Caxumba , Rubéola (Sarampo Alemão) , Criança , Feminino , Humanos , Lactente , Gravidez , Estudos de Coortes , Demografia , Sarampo/prevenção & controle , Vacina contra Sarampo-Caxumba-Rubéola/administração & dosagem , Caxumba/epidemiologia , Caxumba/prevenção & controle , Rubéola (Sarampo Alemão)/prevenção & controle , Reino Unido/epidemiologia , Vacinação
2.
AJOG Glob Rep ; 3(2): 100193, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37168546

RESUMO

BACKGROUND: Professional societies have recommended universal first trimester screening for preeclampsia and a second or third trimester soluble fms-like tyrosine kinase-1-placental growth factor ratio test to assess for preeclampsia and its severity. However, it may not be feasible to implement the most optimal screening protocol for preeclampsia in the first trimester which uses a combination of maternal characteristics, maternal biophysical and biochemical markers due to limitations in the access to uterine artery doppler ultrasound. There are inconsistent findings on how early in the second trimester the fms-like tyrosine kinase-1-placental growth factor ratio begins to provide useful information in preeclampsia prediction. OBJECTIVE: This study aimed to assess the accuracy of (1) a combination of maternal characteristics, maternal serum pregnancy-associated plasma protein A, and placental growth factor in the screening for preeclampsia in the first trimester; and (2) placental growth factor or soluble fms-like tyrosine kinase-1-placental growth factor ratio in the prediction of preeclampsia in the early second trimester. STUDY DESIGN: This retrospective case-control study used frozen residual blood samples from women who had aneuploidy screening and delivered at a tertiary center. The case group included pregnancies with gestational hypertension or preeclampsia (further classified as early-onset [birth at <34 weeks' gestation] and preterm preeclampsia [birth at <37 weeks' gestation]). Each case was matched with 3 control pregnancies by date of blood sample draw, gestational age at first blood sample draw, maternal age, maternal ethnicity, type of multiple-marker screening, and amount of residual sample. Mann-Whitney U tests were used to assess the associations between serum markers and the risk of preeclampsia. Logistic regressions were used to assess if the risk of preeclampsia can be predicted using a combination of maternal characteristics and serum markers. RESULTS: The case group included 146 preeclampsia and 295 gestational hypertension cases. Compared with the controls, preeclampsia cases had significantly lower first-trimester pregnancy-associated plasma protein A and placental growth factor. At a 20% false-positive rate, 71% of early-onset and 58% of preterm preeclampsia cases can be predicted using maternal characteristics, pregnancy-associated plasma protein A, and placental growth factor. Preeclampsia cases had lower second-trimester placental growth factor and a higher soluble fms-like tyrosine kinase-1-placental growth factor ratio. At a 10% false-positive rate, 80% and 53% of early-onset preeclampsia can be predicted using maternal characteristics and placental growth factor or soluble fms-like tyrosine kinase-1-placental growth factor ratio, respectively. CONCLUSION: The current first-trimester aneuploidy screening programs may be expanded to identify women at increased risk of developing preeclampsia. Early in the second trimester, placental growth factor alone provided better prediction for preeclampsia compared with the soluble fms-like tyrosine kinase-1-placental growth factor ratio.

3.
Ir Med J ; 115(8): 652, 2022 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-36302366

RESUMO

Introduction Childhood poverty has life-long adverse impacts. We aimed to assess perceptions of parents of a cohort of children attending a paediatric emergency department regarding the impact of their housing on their child and family Methods From 01/11/2020 - 08/01/2021 a cross-sectional study was performed in a paediatric emergency department in Dublin Results Of 312 parents who completed a questionnaire, 4.5% (n = 14) reported themselves to be homeless. Homeless children were less likely to be registered with general practitioners (78.6% vs. 97.5%, p = .009) or be fully vaccinated (71.4% vs. 92.4%, p = .024). Homeless parents were more likely to feel unsafe at home (35.7% vs. 3.4%, p <.001), and to report that their housing negatively impacted their child's education (58.3% vs 10.7%, p <.001), physical health (45.5% vs 11.7, p = .007), and mental health (61.5% vs 12.6%, p <.001). Ten percent of non-homeless parents were concerned about losing their home. A lack of landlord permission to install child safety measures in the home was reported by 28% of all parents. Conclusion Homeless parents were more likely to report that their living situation negatively impacted their child's play, development, education, safety, and health.


Assuntos
Habitação , Pessoas Mal Alojadas , Humanos , Criança , Saúde da Criança , Estudos Transversais , Pais/psicologia
4.
SSM Popul Health ; 19: 101206, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36105560

RESUMO

Background: The relationship between disadvantage and child health in the early years is well established. For this evidence base to most helpfully inform services, we need to better understand how disadvantage is conceptualised and measured in the literature. We aimed to conceptualise disadvantage measured in child health literature and explore the associations between disadvantage and child health using these measures. Method: We conducted a scoping review using systematic methods to identify key concepts of disadvantage used in empirical child health literature. We searched MEDLINE, Scopus, and grey literature for studies exploring the association between disadvantage and child health outcomes for children aged 0-5 in the United Kingdom. We extracted and analysed data from 86 studies. Results: We developed a framework describing two domains, each with two attributes conceptualising disadvantage: level of disadvantage indicator (individual and area) and content of disadvantage indicator (social and economic). Individual-level measures of disadvantage tended to identify stronger associations between disadvantage and child health compared with area-level measures. Conclusion: The choice of disadvantage indicators, particularly whether individual- or area-level, can affect the inferences made about the relationship between disadvantage and child health. Better access to individual-level disadvantage indicators in administrative data could support development and implementation of interventions aimed at reducing child health inequalities in the early years.

5.
BMC Pregnancy Childbirth ; 22(1): 190, 2022 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-35260099

RESUMO

BACKGROUND: Abnormal levels of maternal biochemical markers used in multiple marker aneuploidy screening have been associated with adverse pregnancy outcomes. This study aims to assess if a combination of maternal characteristics and biochemical markers in the first and second trimesters can be used to screen for preeclampsia (PE). The secondary aim was to assess this combination in identifying pregnancies at risk for gestational hypertension and preterm birth. METHODS: This case-control study used information on maternal characteristics and residual blood samples from pregnant women who have undergone multiple marker aneuploidy screening. The median multiple of the median (MoM) of first and second trimester biochemical markers in cases (women with PE, gestational hypertension and preterm birth) and controls were compared. Biochemical markers included pregnancy-associated plasma protein A (PAPP-A), placental growth factor (PlGF), human chorionic gonadotropin (hCG), alpha feto-protein (AFP), unconjugated estriol (uE3) and Inhibin A. Logistic regression analysis was used to estimate screening performance using different marker combinations. Screening performance was defined as detection rate (DR) and false positive rate (FPR). Preterm and early-onset preeclampsia PE were defined as women with PE who delivered at < 37 and < 34 weeks of gestation, respectively. RESULTS: There were 147 pregnancies with PE (81 term, 49 preterm and 17 early-onset), 295 with gestational hypertension, and 166 preterm birth. Compared to controls, PE cases had significantly lower median MoM of PAPP-A (0.77 vs 1.10, p < 0.0001), PlGF (0.76 vs 1.01, p < 0.0001) and free-ß hCG (0.81 vs. 0.98, p < 0.001) in the first trimester along with PAPP-A (0.82 vs 0.99, p < 0.01) and PlGF (0.75 vs 1.02, p < 0.0001) in the second trimester. The lowest first trimester PAPP-A, PlGF and free ß-hCG were seen in those with preterm and early-onset PE. At a 20% FPR, 67% of preterm and 76% of early-onset PE cases can be predicted using a combination of maternal characteristics with PAPP-A and PlGF in the first trimester. The corresponding DR was 58% for gestational hypertension and 36% for preterm birth cases. CONCLUSIONS: Maternal characteristics with first trimester PAPP-A and PlGF measured for aneuploidy screening provided reasonable accuracy in identifying women at risk of developing early onset PE, allowing triage of high-risk women for further investigation and risk-reducing therapy. This combination was less accurate in predicting women who have gestational hypertension or preterm birth.


Assuntos
Aneuploidia , Biomarcadores/sangue , Fator de Crescimento Placentário/sangue , Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/diagnóstico , Proteína Plasmática A Associada à Gravidez , Adulto , Estudos de Casos e Controles , Programas de Triagem Diagnóstica , Feminino , Humanos , Hipertensão Induzida pela Gravidez/sangue , Hipertensão Induzida pela Gravidez/diagnóstico , Modelos Logísticos , Ontário/epidemiologia , Gravidez , Trimestres da Gravidez , Nascimento Prematuro/sangue , Nascimento Prematuro/diagnóstico , Curva ROC , Estudos Retrospectivos
7.
BMC Pregnancy Childbirth ; 20(1): 713, 2020 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-33228595

RESUMO

BACKGROUND: Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary. METHODS: We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population. RESULTS: At an eFTS risk cut-off of ≥1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9 days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3-5%, it was more costly and more women required diagnostic testing. CONCLUSION: Reflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results.


Assuntos
Síndrome de Down/diagnóstico , Teste Pré-Natal não Invasivo/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Ácidos Nucleicos Livres , Custos e Análise de Custo , Feminino , Humanos , Testes para Triagem do Soro Materno/métodos , Medição da Translucência Nucal/métodos , Ontário , Aceitação pelo Paciente de Cuidados de Saúde , Gravidez , Primeiro Trimestre da Gravidez
8.
Child Care Health Dev ; 43(4): 463-480, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28317146

RESUMO

BACKGROUND: Numbers of looked-after children and young people (LACYP) in the UK have risen over the last seven years. Looked-after children and young people should receive regular health assessments, including establishing immunization status and, if needed, developing a health plan to achieve full immunization. The Department for Education publish data on immunizations among LACYP to monitor both how well they are immunized and service performance. METHODS: A literature review was conducted using four databases (PubMed, Embase, Scopus and Web of Science) on immunization status of LACYP, factors affecting uptake and challenges to immunization, and interventions to improve immunization rates. RESULTS: Thirty-two papers were identified, 16 of which were UK based. Looked-after children and young people are less likely to be 'up-to-date' with their immunizations than children in the general population. Looked-after children and young people are less likely to receive timely immunizations, and older LACYP are less likely to be 'up-to-date' than younger LACYP. Barriers to immunization include failure to attend health checks, absence from school and frequent placement moves. Unknown and discrepant immunization histories, name changes, sharing of information between organizations and obtaining consent for immunizations are also challenges. CONCLUSIONS: In recent years, immunization of LACYP has been given a higher priority. However, the immunization figures produced by the Department for Education are problematic because of challenges in determining whether the child is 'up-to-date', and data are not comparable with the general population; ideally, this should be changed to correspond to routine immunization data. In the interim, for reporting purposes, the use of a tool to assist with determining a child's immunization status would be beneficial. When a child's immunization status is incomplete or unknown, Public Health England's algorithm for vaccination of individuals with uncertain or incomplete status should be used. Practice to improve immunization uptake amongst LACYP needs to be evaluated to develop evidence-based recommendations.


Assuntos
Proteção da Criança , Cuidados no Lar de Adoção , Fidelidade a Diretrizes , Programas de Imunização , Saúde Pública , Adolescente , Criança , Prática Clínica Baseada em Evidências , Humanos , Programas de Imunização/estatística & dados numéricos , Avaliação de Resultados em Cuidados de Saúde , Avaliação de Programas e Projetos de Saúde , Reino Unido
10.
Clin Genet ; 89(3): 275-84, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26283276

RESUMO

An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis of disease for 25-40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was a nation-wide effort to identify mutations for childhood-onset disorders using WES. Most children enrolled in the FORGE project were toward the end of the diagnostic odyssey. The two primary outcomes of FORGE were novel gene discovery and the identification of mutations in genes known to cause disease. In the latter instance, WES identified mutations in known disease genes for 105 of 362 families studied (29%), thereby informing the impact of WES in the setting of the diagnostic odyssey. Our analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases. What is becoming increasingly clear is that WES will be paradigm altering for patients and families with rare genetic diseases.


Assuntos
Exoma , Genes , Doenças Genéticas Inatas/diagnóstico , Mutação , Análise de Sequência de DNA , Canadá , Criança , Doenças Genéticas Inatas/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
11.
Hum Mol Genet ; 23(10): 2752-68, 2014 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-24381304

RESUMO

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtornos Globais do Desenvolvimento Infantil/genética , Glicoproteínas/genética , Proteínas do Tecido Nervoso/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Cromossomos Humanos Par 9 , Variações do Número de Cópias de DNA , Éxons , Feminino , Expressão Gênica , Estudos de Associação Genética , Predisposição Genética para Doença , Glicoproteínas/metabolismo , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas do Tecido Nervoso/metabolismo , Especificidade de Órgãos , Fenótipo , Polimorfismo de Nucleotídeo Único , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/metabolismo , Fatores de Risco , Deleção de Sequência , Fatores de Transcrição/metabolismo , Sítio de Iniciação de Transcrição , Proteínas com Motivo Tripartido , Ubiquitina-Proteína Ligases , Adulto Jovem
12.
Child Care Health Dev ; 40(4): 472-80, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23902453

RESUMO

BACKGROUND: Children are shaped in part by their environment and one rich in communication is therefore beneficial. Activities such as play and reading have long lasting positive effects on development. This study examined the social and demographic characteristics of mothers who play with, read to and tell stories to their child, using data from the UK-wide Millennium Cohort Study (MCS). METHODS: The study included 14 034 mothers of singleton 5-year-old children. Using data from the first and third sweeps of the MCS, we examined how often mothers engaged with their child in playing, reading and telling stories, according to their social and demographic characteristics: ethnicity, socio-economic status, highest academic qualification, lone mother status, age at birth of cohort child, number of children and employment status. Adjusted logistic regression analyses were conducted using Stata. RESULTS: When their children were 5 years old, 22% of mothers reported playing, 51% reading and 13% telling stories everyday. Indian, Pakistani, Bangladeshi and Black mothers were significantly less likely to play with their child at least weekly compared with White mothers. The same applied to lone mothers compared with those living with a partner. Mothers with academic qualifications lower than degree level were less likely to read at least once weekly. Compared with mothers who worked full-time, those who worked part-time, were 'on-leave' or unemployed, were more likely to play with, and read to, their child at least weekly. Mothers with more than one child were significantly less likely to engage at least weekly in any of the three activities studied. CONCLUSIONS: We found significant inequalities in the frequency of playing, reading and telling stories according to sociodemographic characteristics. This information is important to be able to target more effectively vulnerable children using established public health initiatives, like 'Bookstart' and 'Surestart', aimed at promoting play, reading and story telling.


Assuntos
Relações Mãe-Filho , Poder Familiar , Jogos e Brinquedos , Mulheres Trabalhadoras/estatística & dados numéricos , Adulto , Pré-Escolar , Estudos de Coortes , Escolaridade , Etnicidade , Características da Família , Feminino , Humanos , Estudos Longitudinais , Masculino , Relações Mãe-Filho/psicologia , Jogos e Brinquedos/psicologia , Meio Social , Fatores de Tempo , Reino Unido/epidemiologia
13.
Vaccine ; 31(22): 2543-50, 2013 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-23602536

RESUMO

BACKGROUND: To examine immunisation information needs of teenagers we explored understandings of vaccination and vaccine-preventable diseases, attitudes towards immunisation and experiences of immunisation. Diseases discussed included nine for which vaccines are currently offered in the UK (human papillomavirus, meningitis, tetanus, diphtheria, polio, whooping cough, measles, mumps and rubella), and two not currently included in the routine UK schedule (hepatitis B and chickenpox). METHODS: Twelve focus groups conducted between November 2010 and March 2011 with 59 teenagers (29 girls and 30 boys) living in various parts of Scotland. RESULTS: Teenagers exhibited limited knowledge and experience of the diseases, excluding chickenpox. Measles, mumps and rubella were perceived as severe forms of chickenpox-like illness, and rubella was not associated with foetal damage. Boys commonly believed that human papillomavirus only affects girls, and both genders exhibited confusion about its relationship with cancer. Participants considered two key factors when assessing the threat of diseases: their prevalence in the UK, and their potential to cause fatal or long-term harm. Meningitis was seen as a threat, but primarily to babies. Participants explained their limited knowledge as a result of mass immunisation making once-common diseases rare in the UK, and acknowledged immunisation's role in reducing disease prevalence. CONCLUSIONS: While it is welcome that fewer teenagers have experienced vaccine-preventable diseases, this presents public health advocates with the challenge of communicating benefits of immunisation when advantages are less visible. The findings are timely in view of the Joint Committee on Vaccination and Immunisation's recommendation that a booster of meningitis C vaccine should be offered to teenagers; that teenagers did not perceive meningitis C as a significant threat should be a key concern of promotional information. While teenagers' experiences of immunisation in school were not always positive, they seemed enthusiastic at the prospect of introducing more vaccines for their age group.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Vacinação/psicologia , Vacinas/administração & dosagem , Adolescente , Doença/psicologia , Feminino , Humanos , Masculino , Psicologia do Adolescente , Escócia
14.
J Vet Intern Med ; 26(4): 1012-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22708588

RESUMO

BACKGROUND: Seasonal pasture myopathy (SPM) is a highly fatal form of nonexertional rhabdomyolysis that occurs in pastured horses in the United States during autumn or spring. In Europe, a similar condition, atypical myopathy (AM), is common. Recently, a defect of lipid metabolism, multiple acyl-CoA dehydrogenase deficiency (MADD), has been identified in horses with AM. OBJECTIVE: To determine if SPM in the United States is caused by MADD. ANIMALS: Six horses diagnosed with SPM based on history, clinical signs, and serum creatine kinase activity, or postmortem findings. METHODS: Retrospective descriptive study. Submissions to the Neuromuscular Diagnostic Laboratory at the University of Minnesota were reviewed between April 2009 and January 2010 to identify cases of SPM. Inclusion criteria were pastured, presenting with acute nonexertional rhabdomyolysis, and serum, urine, or muscle samples available for analysis. Horses were evaluated for MADD by urine organic acids, serum acylcarnitines, muscle carnitine, or histopathology. RESULTS: Six horses had clinical signs and, where performed (4/6 horses), postmortem findings consistent with SPM. Affected muscle (4/4) showed degeneration with intramyofiber lipid accumulation, decreased free carnitine concentration, and increased carnitine esters. Serum acylcarnitine profiles (3/3) showed increases in short- and medium-chain acylcarnitines and urinary organic acid profiles (3/3) revealed increased ethylmalonic and methylsuccinic acid levels, and glycine conjugates, consistent with equine MADD. CONCLUSIONS AND CLINICAL IMPORTANCE: Similar to AM, the biochemical defect causing SPM is MADD, which causes defective muscular lipid metabolism and excessive myofiber lipid content. Diagnosis can be made by assessing serum acylcarnitine and urine organic acid profiles.


Assuntos
Doenças dos Cavalos/enzimologia , Deficiência Múltipla de Acil Coenzima A Desidrogenase/veterinária , Músculo Esquelético/enzimologia , Rabdomiólise/veterinária , Animais , Feminino , Histocitoquímica/veterinária , Doenças dos Cavalos/etiologia , Cavalos , Masculino , Meio-Oeste dos Estados Unidos , Deficiência Múltipla de Acil Coenzima A Desidrogenase/sangue , Deficiência Múltipla de Acil Coenzima A Desidrogenase/urina , Estudos Retrospectivos , Rabdomiólise/enzimologia , Rabdomiólise/etiologia
15.
J Clin Ultrasound ; 40(4): 222-6, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22105337

RESUMO

The purpose of this article is to describe the use of three-dimensional sonography as an adjuvant to two-dimensional sonography facilitating an earlier and more definitive diagnosis of Jeune and Jeune-like syndromes in the second trimester. We report two cases in which three-dimensional sonography facilitated the diagnosis of these malformations. A diagnosis of Jeune syndrome was made in our first case. Our second case was found to be short-rib polydactyly syndrome Type IV. Three-dimensional skeletal survey visualized short ribs, short limbs, the presence of normal scapulae, and the absence of polydactyly in both cases. Three-dimensional sonography can assist two-dimensional sonography in providing a more accurate display of skeletal anomalies, limb abnormalities, and facial features.


Assuntos
Síndrome de Ellis-Van Creveld/diagnóstico por imagem , Imageamento Tridimensional , Síndrome de Costela Curta e Polidactilia/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Osso e Ossos/diagnóstico por imagem , Feminino , Humanos , Masculino , Gravidez
16.
Child Care Health Dev ; 38(3): 435-40, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21668464

RESUMO

BACKGROUND: Regular assessment of growth is an important part of child health surveillance in the UK and most parents are very interested in their child's growth. UK parents are given a personal child health record (PCHR), including growth charts, which are plotted during baby clinic visits. Parents were consulted as part of the process of designing new UK charts to incorporate the World Health Organization growth standard. This paper describes the main themes that emerged and how they influenced the final design. METHOD: Three sets of consultations with 47 parents were conducted to collect preliminary information, and to evaluate proposed chart designs, instructions and written information for parents. RESULTS: At every consultation, the impact of the depiction of the 50th centile line in bold was mentioned spontaneously by parents. They also found aspects of the charts unclear, including the implications of a recorded weight on any particular centile, the difficulty of understanding existing text about charts in the PCHR, their preference for using pounds and ounces rather than metric weights and confusion about how frequently babies should be weighed. This led to the production of parental information including explanation of these issues which were then tested in two further sets of focus groups. CONCLUSION: Involving parents in the process of designing growth charts and information influenced the finished design and the text in the PCHR. Ensuring information meets parents' needs is important to ensure successful growth monitoring.


Assuntos
Antropometria/instrumentação , Gráficos de Crescimento , Pais/educação , Pais/psicologia , Organização Mundial da Saúde , Estatura , Peso Corporal , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Educação de Pacientes como Assunto , Publicações , Reino Unido
17.
Neurology ; 72(20): 1755-9, 2009 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-19451530

RESUMO

BACKGROUND: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified. OBJECTIVE: To determine the frequency and type of mutations in the SEPT9 gene in a new cohort of 42 unrelated HNA pedigrees. METHODS: DNA sequencing of all exons and intron-exon boundaries for SEPT9 was carried out in an affected individual in each pedigree from our HNA cohort. Genotyping using microsatellite markers spanning the SEPT9 gene was also used to identify pedigrees with a previously reported founder haplotype. RESULTS: Two missense mutations were found: c.262C>T (p.Arg88Trp) in seven HNA pedigrees and c.278C>T (p.Ser93Phe) in one HNA pedigree. Sequencing of other known exons in SEPT9 detected no additional disease-associated mutations. A founder haplotype, without defined mutations in SEPT9, was present in seven pedigrees. CONCLUSIONS: We provide further evidence that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA). DNA sequencing of SEPT9 demonstrates a restricted set of mutations in this cohort of HNA pedigrees. Nonetheless, sequence analysis will have an important role in mutation detection in HNA. Additional techniques will be required to find SEPT9 mutations in an HNA founder haplotype and other pedigrees.


Assuntos
Sequência de Bases , Neurite do Plexo Braquial/genética , Análise Mutacional de DNA , GTP Fosfo-Hidrolases/genética , Mutação de Sentido Incorreto , Análise de Sequência , Mapeamento Cromossômico , Feminino , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Septinas
18.
Arch Dis Child ; 94(1): 49-51, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18463124

RESUMO

OBJECTIVE: To investigate the relationship between primary immunisation status and MMR uptake. DESIGN: Nationally representative Millennium Cohort Study. SETTING: Children born in the UK, 2000-2002. PARTICIPANTS: 14,578 children with immunisation data. MAIN OUTCOME MEASURES: MMR status at 3 years, defined as immunised with MMR, immunised with at least one single antigen vaccine or unimmunised. RESULTS: 88.6% of children had been immunised with MMR, 5.2% had received at least one of the single antigen vaccines and 6.1% were unimmunised against measles, mumps and rubella at age 3 years. Children who were unimmunised with the primary vaccines at ages 9 months (1.2%, n = 168) and 3 years (0.4%, n = 67) were 13 (95% CI 10.8 to 14.7) and 17 (95% CI 14.6 to 19.7) times more likely to be unimmunised against measles, mumps and rubella compared with children who were fully immunised. They were also more likely to be immunised with at least one of the single antigen vaccines with risk ratios of 2.8 (95% 1.2 to 6.1) and 4.3 (95% CI 1.8 to 10.1). Similar but smaller associations were observed if children were partially immunised with the primary vaccines at 9 months (3.4%, n = 502) and 3 years (3.6%, n = 522) with risk ratios of 4.0 (95% 3.2 to 4.9) and 5.2 (95% 4.2 to 6.1) for no MMR immunisation, and 2.0 (95% C 1.1 to 3.6) and 1.6 (95% CI 1.1 to 2.5) for single antigen vaccine use. CONCLUSION: Children who remain unimmunised with primary vaccines are also more likely not to receive MMR. More work is needed to determine how best to target this group.


Assuntos
Imunização/estatística & dados numéricos , Vacina contra Sarampo-Caxumba-Rubéola/administração & dosagem , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Criança , Pré-Escolar , Análise por Conglomerados , Feminino , Humanos , Imunização/psicologia , Lactente , Estudos Longitudinais , Masculino , Vacina contra Sarampo/administração & dosagem , Mães/educação , Mães/psicologia , Vacina contra Caxumba/administração & dosagem , Valor Preditivo dos Testes , Reino Unido
19.
Child Care Health Dev ; 33(6): 744-8, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17944784

RESUMO

BACKGROUND: The Personal Child Health Record (PCHR) is a booklet given to parents in the UK, following the birth of a child, to be used as the main record of their growth, development and uptake of preventative health services. The national standard PCHR has been available since April 2004. The aim of this survey was to explore parental views of the 'new' PCHR, their experiences in receiving it, and its subsequent use, focusing on specific issues of current debate among health professionals. METHODS: A parental questionnaire (n = 89) was administered in July 2004, in 10 child health clinics located in two primary care trusts; one in central London and the other in Buckinghamshire. RESULTS: Nearly all parents (98%) reported that they used the PCHR as a record of their child's health and development and 92% reported that they 'always' took it with them when seeing healthcare staff about their child. Some parents (22%) indicated that they had not been given a satisfactory explanation as to how to use the PCHR, at the time it was issued to them. Parents reported that health visitors were more likely than other health professionals to use the PCHR both to obtain information about their child and to record information. The majority of respondents (78%) were happy for the level of maternal education to be documented in their child's PCHR. CONCLUSIONS: Parents used, appreciated and liked the design of the national standard PCHR. Health visitors and primary care staff used the PCHR more than secondary care staff. The potential benefits of the PCHR will only be maximized if other healthcare professionals respond by using it.


Assuntos
Desenvolvimento Infantil , Prontuários Médicos/normas , Folhetos , Pais , Criança , Pré-Escolar , Enfermagem em Saúde Comunitária/métodos , Enfermagem em Saúde Comunitária/organização & administração , Inglaterra , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Relações Profissional-Família , Inquéritos e Questionários
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