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BACKGROUND: Advance care planning (ACP) is the process of ongoing communication among patients, family and health care professionals regarding what plans for future care are preferred in the event that patients become unable to make their own decisions. Clinicians play an important role in ACP as both initiators and decision coaches. However, lack of training for clinicians has frequently been reported as the reason for low involvement in ACP discussions - hence the present review evaluates the effectiveness of ACP training programs for healthcare professionals to guide the development of novel training programs for them in the future. METHODS: A literature search for intervention studies was conducted independently by two reviewers in July 2018. Participants included all healthcare professionals working with adult patients suffering from terminal illness. The primary outcomes were the professionals' knowledge of and attitudes towards ACP, and self-perceived competence in ACP conversations. The Effective Public Health Practice Project appraisal tool was used to examine the quality of the studies included. RESULTS: A total of 4025 articles were identified, and ten eligible articles, covering 1081 participants, were included in the review. However, there is a lack of high quality randomized controlled trials of providing ACP training for nurses working in non-palliative care hospital settings. The overall quality of the intervention studies was moderate. All the studies included used instructional sessions in their interventions, while some contained group discussion, role-play and the use of advanced technology. The training programs increased the knowledge, attitudes towards shared decision-making, perceived communication skills, confidence, comfort and experiences concerned with discussing end-of-life (EOL) issues. Patient advocacy, job satisfaction and perceived level of adequate training for EOL care were improved. The use of 'decision aids' was rated as acceptable and clinically useful. CONCLUSIONS: Training for healthcare professionals in ACP has positive effects on their knowledge, attitude and skills. The use of decision aids and advanced technology, instructional sessions with role play, training content focused on ACP communication skills and the needs and experience of patient in the ACP process, and a values-based ACP process are all those factors that made the ACP training programs effective.
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Planejamento Antecipado de Cuidados/normas , Diretivas Antecipadas , Pessoal de Saúde/educação , Tomada de Decisões , Prática Clínica Baseada em Evidências , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoAssuntos
Neoplasias , Papel do Profissional de Enfermagem , Humanos , Comportamento Sexual , SexualidadeAssuntos
COVID-19 , Falência Renal Crônica , Transplante de Rim , Humanos , Diálise Renal , Hong KongRESUMO
INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. METHODS: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. RESULTS: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. CONCLUSION: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.
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Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/métodos , Diagnóstico Precoce , Feminino , Hong Kong , Humanos , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/terapia , Projetos Piloto , Guias de Prática Clínica como Assunto , Estudos Prospectivos , Inquéritos e QuestionáriosAssuntos
Obtenção de Tecidos e Órgãos , Atitude , Estudos Transversais , Hong Kong , Humanos , Doadores de TecidosRESUMO
OBJECTIVES: To examine knowledge of chronic kidney disease in the general public. DESIGN: Cross-sectional telephone survey. SETTING: Hong Kong. PARTICIPANTS: Community-dwelling adults who spoke Chinese in Hong Kong. RESULTS: The response rate was 47.3% (516/1091) out of all subjects who were eligible to participate. The final survey population included 516 adults (55.6% female), of whom over 80% had received a secondary level of education or higher. Close to 20% of the participants self-reported a diagnosis of hypertension. Few (17.8%) realised the asymptomatic nature of chronic kidney disease. Less than half of these individuals identified hypertension (43.8%) or diabetes (44.0%) as risk factors of kidney disease. Awareness of high dietary sodium as a risk factor for chronic kidney disease was high (79.5%). CONCLUSIONS: The public in Hong Kong is poorly informed about chronic kidney disease, with major knowledge gaps regarding the influence of hypertension on kidney disease. We are concerned about the public's unawareness of hypertension being a risk factor for kidney disease. Future health education should target areas of knowledge deficits.
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Conhecimentos, Atitudes e Prática em Saúde , Insuficiência Renal Crônica/etiologia , Adolescente , Adulto , Estudos Transversais , Complicações do Diabetes , Escolaridade , Feminino , Hong Kong/epidemiologia , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Sódio na Dieta/efeitos adversos , Inquéritos e Questionários , Adulto JovemRESUMO
Introduction: Fruit losses in the supply chain owing to improper handling and a lack of proper control are common in the industry. As losses are caused by the inefficiency of the export method, selecting the appropriate export method is a possible solution. Several organizations employ only a single strategy, which is mainly based on a first-in-first-out approach. Such a policy is easy to manage but inefficient. Given that the batch of fruits may become overripe during transportation, frontline operators do not have the authority or immediate support to change the fruit dispatching strategy. Thus, this study aims to develop a dynamic strategy simulator to determine the sequence of delivery based on forecasting information projected from probabilistic data to reduce the amount of fruit loss. Methods: The proposed method to accomplish asynchronous federated learning (FL) is based on blockchain technology and a serially interacting smart contract. In this method, each party in the chain updates its model parameters and uses a voting system to reach a consensus. This study employs blockchain technology with smart contracts to serially enable asynchronous FL, with each party in the chain updating its parameter model. A smart contract combines a global model with a voting system to reach a common consensus. Its artificial intelligence (AI) and Internet of Things engine further strengthen the support for implementing the Long Short-Term Memory (LSTM) forecasting model. Based on AI technology, a system was constructed using FL in a decentralized governance AI policy on a blockchain network platform. Results: With mangoes being selected as the category of fruit in the study, the system improves the cost-effectiveness of the fruit (mango) supply chain. In the proposed approach, the simulation outcomes show fewer mangoes lost (0.035%) and operational costs reduced. Discussion: The proposed method shows improved cost-effectiveness in the fruit supply chain through the use of AI technology and blockchain. To evaluate the effectiveness of the proposed method, an Indonesian mango supply chain business case study has been selected. The results of the Indonesian mango supply chain case study indicate the effectiveness of the proposed approach in reducing fruit loss and operational costs.
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AIMS/HYPOTHESIS: A progressive loss of pancreatic beta cell function, a decrease in beta cell mass and accumulation of islet amyloid is characteristic of type 2 diabetes mellitus. The main constituent of islet amyloid is islet amyloid polypeptide (IAPP). In this study, we examined the ability of the peptidase neprilysin to cleave IAPP and prevent human IAPP-induced pancreatic beta cell toxicity. METHODS: Neprilysin and a catalytically compromised neprilysin mutant were tested for their ability to inhibit human IAPP fibrillisation and human IAPP-induced pancreatic beta cell cytotoxicity. Degradation of human IAPP by neprilysin was followed by HPLC, and the degradation products were identified by MS. RESULTS: Neprilysin prevented IAPP fibrillisation by cleaving IAPP at Arg(11)-Leu(12), Leu(12)-Ala(13), Asn(14)-Phe(15), Phe(15)-Leu(16), Asn(22)-Phe(23) and Ala(25)-Ile(26). It also appears to prevent human IAPP fibrillisation through a non-catalytic interaction. Neprilysin protected against beta cell cytotoxicity induced by exogenously added or endogenously produced human IAPP. CONCLUSIONS/INTERPRETATION: The data presented support a potential therapeutic role for neprilysin in preventing type 2 diabetes mellitus. This study supports the hypothesis that extracellular human IAPP contributes to human IAPP-induced beta cell cytotoxicity. Whether human IAPP exerts its cytotoxic effect through a totally extracellular mechanism or through a cellular reuptake mechanism is unclear at this time.
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Precursor de Proteína beta-Amiloide/metabolismo , Apoptose/fisiologia , Diabetes Mellitus Tipo 2/metabolismo , Células Secretoras de Insulina/enzimologia , Neprilisina/metabolismo , Sequência de Aminoácidos , Amiloide/metabolismo , Precursor de Proteína beta-Amiloide/genética , Animais , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Diabetes Mellitus Tipo 2/patologia , Ativação Enzimática/fisiologia , Proteínas de Fluorescência Verde/genética , Humanos , Células Secretoras de Insulina/efeitos dos fármacos , Insulinoma , Dados de Sequência Molecular , Neprilisina/genética , Neprilisina/farmacologia , Neoplasias Pancreáticas , Ratos , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Proteínas Recombinantes/farmacologia , Especificidade por Substrato/fisiologia , TransfecçãoRESUMO
Manystudies have shown that kidney transplant recipients have a higher incidence of cancers when compared with general population. However, most data on the posttransplant malignancies (PTM) are derived from Western literature and large population-based studies are rare. There is also lack of information about the posttransplant cancer-specific mortality rate. We conducted a population-based study of 4895 kidney transplants between 1972 and 2011, with data from the Hong Kong Renal Registry. Patterns of cancer incidence and mortality in our kidney transplant recipients were compared with those of the general population using standardized incidence ratios (SIRs) and standardized mortality ratios (SMRs) respectively. With 40 246 person-years of follow-up, 299 PTM was diagnosed. The SIR of all cancers was 2.94 (female 3.58 and male 2.58). Non-Hodgkin lymphoma (NHL), kidney, and bladder cancers had the highest SIRs. The overall SMR was 2.3 (female 3.4 and male 1.7) and the highest SMR was NHL. The patterns of PTM differ among countries. Increases in cancer incidence can now translate into similar increases in cancer mortality. NHL is important in our kidney transplant recipients. Strategies in cancer screening in selected patient groups are needed to improve transplant outcomes.
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Transplante de Rim/efeitos adversos , Neoplasias/epidemiologia , Neoplasias/etiologia , Sistema de Registros , Adulto , Distribuição por Idade , Idoso , Estudos de Coortes , Intervalos de Confiança , Feminino , Hong Kong/epidemiologia , Humanos , Incidência , Transplante de Rim/métodos , Masculino , Pessoa de Meia-Idade , Neoplasias/patologia , Prognóstico , Estudos Retrospectivos , Medição de Risco , Distribuição por Sexo , Análise de SobrevidaRESUMO
BACKGROUND: Urinary intercellular adhesion molecule-1 (ICAM-1) level is potentially a valuable biomarker of lupus nephritis (LN), but because ICAM-1 is a cell-surface molecule, soluble ICAM-1 level in urinary supernatant measured by ELISA may not be biologically relevant. METHODS: The ICAM-1 level in urine sediment of 12 LN patients, 10 patients with pauci-immune necrotizing glomerulonephritis (NecGN), and six healthy controls were determined with a polymerase chain reaction (PCR)-based assay. The urinary sediment levels of miR-221, miR-222, miR-339-3P and miR-339-5P, which are involved in the regulation of ICAM-1 production, were also quantified. RESULTS: LN patients had lower urinary sediment ICAM-1 levels than the other two groups (overall p = 0.034). In addition, urinary sediment ICAM-1 level inversely correlated with the estimated glomerular filtration rate (GFR) (r = -0.474, p = 0.026) but not other markers of lupus activity, or urinary sediment levels of miR-221, miR-222, miR-339-3P, or miR-339-5P. However, serum anti-dsDNA level inversely correlated with urinary sediment levels of miR-221 (r = -0.591, p = 0.043) and miR-222 (r = -0.689, p = 0.013), while urinary sediment miR-221 level also correlated with serum C3 level (r = 0.658, p = 0.02). CONCLUSIONS: We conclude that urinary sediment ICAM-1 level was significantly reduced in LN, and the level inversely correlated with renal function. Urinary sediment miR-221 and miR-222 levels correlate with lupus disease activity and may serve as biomarkers of LN.
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Glomerulonefrite/fisiopatologia , Molécula 1 de Adesão Intercelular/urina , Nefrite Lúpica/fisiopatologia , MicroRNAs/urina , Adulto , Idoso , Autoanticorpos/imunologia , Biomarcadores/urina , Estudos de Casos e Controles , DNA/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Taxa de Filtração Glomerular , Glomerulonefrite/urina , Humanos , Nefrite Lúpica/urina , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND/AIM: Although thiazide-type diuretics can promote a positive calcium balance, thiazide can be associated with hyponatraemia, which is recently linked with heightened fracture risk. We examine the chance of developing fracture in patients with and without hyponatraemia after taking thiazide diuretics. METHODS: In this single-centre retrospective study, we followed up a previously published cohort of patients with (n= 223) and without (n= 216) thiazide-induced hyponatraemia. RESULTS: A total of 61 osteoporotic fractures was recorded during a mean follow-up period of 82 months. Using univariate regression analysis, the hazard ratio of thiazide-induced hyponatraemia was 1.78 (95% confidence interval (CI), 1.05-3.03; P= 0.033). Cox proportional hazards regression analysis, however, showed that age, body mass index and diabetes mellitus were the only independent predictors of osteoporotic fractures. No association of a history of thiazide-induced hyponatraemia and risk of fracture was evident in the final model. CONCLUSION: Since a history of thiazide-induced hyponatraemia is associated with osteoporotic fracture in univariate but not multivariate analyses, an alternative explanation is that confounding factors of older age and low body mass index accounted for the apparently increased risk of osteoporotic fracture in patients with thiazide-induced hyponatraemia.
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Hiponatremia/induzido quimicamente , Hiponatremia/epidemiologia , Fraturas por Osteoporose/epidemiologia , Inibidores de Simportadores de Cloreto de Sódio/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Seguimentos , Fraturas Ósseas/sangue , Fraturas Ósseas/epidemiologia , Humanos , Hiponatremia/sangue , Masculino , Pessoa de Meia-Idade , Fraturas por Osteoporose/sangue , Estudos Retrospectivos , Fatores de Risco , Inibidores de Simportadores de Cloreto de Sódio/sangueRESUMO
OBJECTIVES: Classical inborn errors of metabolism (IEM) affect about 1 in 4000 in Hong Kong. Despite the widespread implementation of expanded newborn screening in most countries, Hong Kong only screen for three conditions and the awareness of public has not been evaluated. This is the first study to examine the parental knowledge and attitudes towards expanded newborn screening in Hong Kong. METHODS: A cross-sectional survey was conducted in the Princess Margaret Hospital. Parents with babies born from 1st July to 31st October 2010 were randomly recruited. Fifteen questions relating to the knowledge of newborn screening and biochemical genetic disorders, preferences about the features of newborn screening, the economic values, and attitudes toward false positive results were asked. RESULTS: In total, 172 subjects were interviewed by phone (overall response rate 97.2%). There were 87.8% parents who had never heard of expanded newborn screening; 99.4% demanded more parental education; 83.5% thought the programme should be implemented immediately; 97.7% supported population screening, even though the diseases are incurable; 93.9% accepted the possibility of false positive and false negative results; 70.4% preferred a voluntary basis; 83.2% believed that the programme should be fully government funded as basic primary care; 98.8% agreed that Hong Kong should follow mainland China's policy on expanded newborn screening; 98.2% required pre-test counseling; and 96.4% required an explicit parental consent before blood sampling. CONCLUSIONS: The response from parents overwhelmingly favoured having expanded newborn screening in Hong Kong. Parental tolerance was high. Parents valued the parental autonomy with informed consent and pre-test counseling the most. The success of any screening programme requires the public participation and this study is the first to prove the parental call for an expanded newborn screening in Hong Kong.
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Conhecimentos, Atitudes e Prática em Saúde , Triagem Neonatal/organização & administração , Pais/psicologia , Estudos Transversais , Hong Kong , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Pesquisa QualitativaRESUMO
BACKGROUND: Polypharmacy, frailty and malnutrition are known predictors of adverse outcomes in dialysis patients. Little has reported about their interaction and composite prognostic values. We aimed to describe the interaction between polypharmacy, frailty, nutrition, hospitalization, and survival in peritoneal dialysis patients. METHODS: In this prospective cohort study, we recruited 573 peritoneal dialysis patients. Drug burden was measured by medication number and daily pill load. Frailty and nutrition were assessed by the validated Frailty Score (FQ) and Subjective Global Assessment (SGA) respectively. All patients were followed for two years. Primary outcome was all-cause mortality. Secondary outcomes were fall and fracture episodes, hospitalization, change in FQ and SGA. RESULTS: At baseline, each patient took 7.5 ± 2.6 medications with 15.5 ± 8.5 tablets per day. Medication number, but not daily pill load predicted baseline FQ (p = 0.004) and SGA (p = 0.03). Over 2 years, there were 69 fall and 1,606 hospitalization episodes. In addition, 148 (25.8%) patients died, while FQ and SGA changed by 0.73 ± 4.23 and -0.07 ± 1.06 respectively in survivors. Medication number (hospitalization: p = 0.02, survival: p = 0.005), FQ (hospitalization: p < 0.001; survival: p = 0.01) predicted hospitalization and survival. Medication number also predicted fall episodes (p = 0.02) and frailty progression (p = 0.002). Daily pill load did not predict any of these outcomes. CONCLUSIONS: Drug burden is high in peritoneal dialysis patients, and it carries important prognostic implication. Medication number but not pill load significantly predicted onset and progression of frailty, malnutrition, fall, hospitalization, and mortality.
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Fragilidade , Desnutrição , Diálise Peritoneal , Humanos , Fragilidade/complicações , Polimedicação , Estudos Prospectivos , Diálise Peritoneal/efeitos adversos , Desnutrição/etiologia , Desnutrição/complicaçõesRESUMO
MicroRNAs circulating in body fluid have been suggested as biomarkers of various diseases. We studied the serum and urinary level of several miRNA species (miR-200 family, miR-205 and miR-192) in patients with systemic lupus erythematosus (SLE). We studied 40 SLE patients. Serum and urinary miRNA levels were determined and compared with that of healthy controls. The serum levels of miR-200a, miR-200b, miR-200c, miR-429, miR-205 and miR-192, and urinary miR-200a, miR-200c, miR-141, miR-429 and miR-192 of SLE patients were lower than those of controls. Glomerular filtration rate (GFR) correlated with serum miR-200b (r = 0.411, p = 0.008), miR-200c (r = 0.343, p = 0.030), miR-429 (r = 0.347, p = 0.028), miR-205 (r = 0.429, p = 0.006) and miR-192 (r = 0.479, p = 0.002); proteinuria inversely correlated with serum miR-200a (r = -0.375, p = 0.017) and miR-200c (r = -0.347, p = 0.029). SLE disease activity index (SLEDAI) inversely correlated with serum miR-200a (r = -0.376, p = 0.017). Serum miR-200b (r = 0.455, p = 0.003) and miR-192 (r = 0.589, p < 0.001) correlated with platelet count, while serum miR-205 correlated with red cell count (r = 0.432, p = 0.005) and hematocrit (r = 0.370, p = 0.019). These pilot results suggested that miRNA may take part in the pathogenesis of SLE. Further studies are needed to validate the role of serum miRNA as a biomarker of SLE.
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Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/urina , MicroRNAs/sangue , MicroRNAs/urina , Adulto , Biomarcadores/sangue , Biomarcadores/urina , Estudos de Casos e Controles , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Fluid overload is a common problem in peritoneal dialysis (PD) patients. Cardiothoracic ratio (CTR) and vascular pedicle width (VPW) in routine chest radiograph are useful indicators of intravascular volume status and may represent important prognostic factors of PD patients. METHODS: We measured VPW and CTR in 286 unselected prevalent PD patients. VPW was further adjusted for the thoracic diameter (VPWR). One-year actuarial survival, technique survival, and duration of hospitalization were analyzed. RESULTS: The mean values of VPW, CTR, VPWR were 47.31 ± 4.73 mm, 0.542 ± 0.074, 0.170 ± 0.024, respectively. VPW correlated with age (r = 0.143; p = 0.016), body weight (r = 0.371; p < 0.001), body height (r = 0.271; p < 0.001), and Charlson's index score (r = 0.153; p = 0.01). One-year patient survival was 87.8%, and technique survival was 82.2%. None of the radiological measurements had an independent effect on one-year actuarial or technique survival by multivariate analysis. Both CTR and VPWR correlated with the duration of hospitalization (r = 0.192 and 0.186, respectively (p = 0.001 and 0.002). Multivariate regression analysis by log-linear modeling showed that independent predictors of one-year hospitalization were VPWR, serum albumin, and SGA overall score. CONCLUSIONS: In Chinese PD patients, VPW was significantly correlated with age, body weight, body height and Charlson's index score. VPWR was an independent predictor of the duration of hospitalization. Further studies are needed to confirm the prognostic value of these radiographic measurements in PD patients.
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Volume Sanguíneo , Falência Renal Crônica/terapia , Diálise Peritoneal , Radiografia Torácica , Estatura , Peso Corporal , Doenças Cardiovasculares/complicações , Feminino , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/mortalidade , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Diálise Peritoneal/efeitos adversos , Prognóstico , Análise de Sobrevida , Taxa de SobrevidaRESUMO
OBJECTIVES: To compare early and late presentations of fetal haemoglobin Bart's disease in the Kowloon West Cluster in Hong Kong, and to find reasons for the re-emergence of late presentations. DESIGN: Case series with internal comparisons. SETTING: Two tertiary obstetric units in Hong Kong. PATIENTS: All cases with confirmed diagnosis of fetal haemoglobin Bart's disease from 1 January 2000 to 31 December 2009. PRIMARY OUTCOME: antenatal care in the current pregnancy. SECONDARY OUTCOMES: clinical presentations, ultrasound features, and pregnancy outcomes. RESULTS: A total of 59 cases (46 early presentations and 13 late presentations) of fetal haemoglobin Bart's disease were identified during the study period. All the late presentations were identified from year 2003 onwards. Late presentations were significantly associated with non-eligible obstetric patients (69% vs 11%; P<0.001), non-booked status at our antenatal service (62% vs 0%; P<0.001), and unavailability of partner's mean corpuscular volume status (23% vs 0%; P=0.009). Mothers presenting late were more likely to have symptoms or signs (85% vs 0%; P<0.001) and to suffer from gestational hypertensive disorder (54% vs 0%; P<0.001). Ultrasound features of these pregnancies included cardiomegaly (94%), placentomegaly (98%), and hydrops fetalis (77%). All pregnancies presenting early were either legally terminated or miscarried. The perinatal mortality in late presentations was 85%. CONCLUSION: The re-emergence of late presentations of fetal haemoglobin Bart's disease after 2003 was related to influx of non-eligible obstetric patients without proper antenatal screening and diagnosis of thalassaemia. Maternal low mean corpuscular volume and characteristic prenatal ultrasound features such as cardiomegaly, placentomegaly, and hydrops fetalis are useful for detecting affected pregnancies in this group of patients. Better education of both patients and doctors is necessary to explain the importance of early diagnosis of the disease and the seriousness of complications due to late presentations, so as to reduce undesirable maternal and perinatal outcomes.
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Diagnóstico Tardio , Hemoglobinas Anormais/metabolismo , Complicações Hematológicas na Gravidez/diagnóstico , Cuidado Pré-Natal/normas , Talassemia alfa/diagnóstico , Adulto , Diagnóstico Precoce , Índices de Eritrócitos , Feminino , Idade Gestacional , Hong Kong , Humanos , Hidropisia Fetal/diagnóstico , Gravidez , Resultado da Gravidez , Fatores Socioeconômicos , Estatísticas não Paramétricas , Ultrassonografia Pré-Natal , Adulto Jovem , Talassemia alfa/sangueRESUMO
BACKGROUND: pre-clinical studies showed that carnosine may have a beneficial cardiovascular effect. We studied the effect of tri-nucleotide repeat (CTGs) polymorphisms in exon 2 of the CNDP1 gene, which codes for carnosinase and is responsible for the degradation of carnosine, on the clinical outcome of Chinese peritoneal dialysis (PD) patients. METHODS: we studied 442 PD subjects. Genotyping was done by direct sequencing of genomic DNA. Patients were followed for 43.5 ± 16.2 months. RESULTS: the prevalence of 6-6, 5-6, 5-5 and 4-6 CTGs genotypes was 80.3%, 18.6%, 0.9% and 0.2%, respectively. A total of 270 patients (61.1%) developed the primary composite end point during follow-up. The 5-year event-free survival of the 6-6 CTGs and non 6-6 group was 37.1% and 21.3%, respectively (log rank test, p = 0.3). CONCLUSION: the CTGs polymorphism of the CNDP1 gene does not affect survival of Chinese PD subjects. The role of carnosine and CNDP1 gene polymorphism in the pathogenesis of cardiovascular disease requires further study.
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Povo Asiático/genética , Dipeptidases/genética , Diálise Peritoneal , Polimorfismo Genético , Insuficiência Renal/terapia , Análise de Variância , Distribuição de Qui-Quadrado , China , Intervalo Livre de Doença , Éxons , Frequência do Gene , Genótipo , Humanos , Estimativa de Kaplan-Meier , Leucina , Diálise Peritoneal/efeitos adversos , Diálise Peritoneal/mortalidade , Fenótipo , Insuficiência Renal/enzimologia , Insuficiência Renal/etnologia , Insuficiência Renal/genética , Insuficiência Renal/mortalidade , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Repetições de TrinucleotídeosRESUMO
BACKGROUND: Interaction of receptor for advanced glycation end products (RAGE) with advanced glycation end products (AGEs) is an important pathogenic mechanism of diabetic complications. Three mutations in the promoter region of the RAGE gene (T-429C, T-374A and a 63 bp deletion spanning from -407 to -345 nucleotides) were known to have increased transcriptional activities. We investigated the relationship between these polymorphisms and the risk of cardiovascular diseases in Chinese subjects with overt diabetic nephropathy. METHODS: A total of 219 Type 2 diabetic subjects with nephropathy were recruited. Genotyping of the three polymorphisms in the genomic DNA was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Patients were followed for 8 years for the development of cardiovascular events and survival. RESULTS: The T-429 C and T-374 A polymorphism had no effect on the event-free survival of the subjects. For the 63 bp deletion polymorphism, the event-free survival was 37.0% and 63.2% at 96 months for del-/- and del-/+ genotypes, respectively (log-rank test, p = 0.034). After adjusting for confounders, the 63 bp deletion polymorphism had a marginal effect on event-free survival (adjusted hazard ratio: 3.517, 95% CI: 0.852 - 14.521, p = 0.082). Subjects without any mutation of the three polymorphisms have significantly higher risk of first ischemic heart disease than those with any of the three mutations (adjusted hazard ratio: 0.218, 95% CI: 0.062 - 0.764, p = 0.017). CONCLUSION: The 63 bp del-/+ genotype of the RAGE gene has a marginal benefit on the cardiovascular event-free survival in subjects with diabetic nephropathy. Subjects with any of the three mutations have a lower risk of ischemic heart disease. The role of RAGE in the pathogenesis of cardiovascular disease in diabetic patients requires further study.