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BACKGROUND: Cryoballoon pulmonary vein isolation (PVI) is a common therapy for atrial fibrillation (AF). While moderately increased sinus rhythm heart rate (HR) after PVI has been observed, inappropriate sinus tachycardia (IST) is a rare phenomenon. We aimed to investigate the prevalence and natural history of an abnormal sinus HR response after cryoballoon PVI. METHODS: We included 169/646 (26.2%) patients with AF undergoing PVI with available Holter recordings before and 3, 6 and 12 months after the procedure. Patients with AF on Holter monitoring were excluded. Mean HR increase ≥â¯20â¯bpm or an IST-like pattern (mean HR >â¯90â¯bpm or >â¯80â¯bpm when beta-blocking agents were used) following PVI was categorised as abnormal sinus HR response. RESULTS: Following PVI, mean HR⯱ standard deviation increased in the entire group from 63.5⯱ 8.4 to 69.1⯱ 9.9â¯bpm at 3 months (pâ¯< 0.001), and to 71.9⯱ 9.4â¯bpm at 6 months (pâ¯< 0.001). At 12 months, mean HR was 71.2⯱ 10.1â¯bpm (pâ¯< 0.001). Only 7/169 patients (4.1%) met criteria for abnormal sinus HR response: mean HR was 61.9⯱ 10.6â¯bpm (pre-ablation), 84.6⯱ 9.8â¯bpm (3 months), 80.1⯱ 6.5â¯bpm (6 months) and 76.3⯱ 10.1â¯bpm (12 months). Even at 12 months, mean HR was significantly different from that pre-ablation in this group (pâ¯= 0.033). However, in patients meeting IST-like pattern criteria, mean HR at 12 months was no longer significantly different from that pre-ablation. CONCLUSION: Few patients had an abnormal sinus HR response after PVI. Peak HR was observed 3 months after PVI, but HR was still significantly increased 12 months post-ablation compared with pre-ablation. An IST-like pattern was rarely observed. In these patients, HR decreased to pre-ablation values within a year.
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The erector spinae plane block is a new regional anaesthesia technique that provides truncal anaesthesia for breast surgery. This systematic review and meta-analysis was undertaken to determine if the erector spinae plane block is effective at reducing pain scores and opioid consumption after breast surgery. This study also evaluated the outcomes of erector spinae plane blocks compared with other regional blocks. PubMed, Embase, Scopus, the Cochrane Central Register of Controlled Trials and ClinicalTrials.gov were searched. We included randomised controlled trials reporting the use of the erector spinae plane block in adult breast surgery. Risk of bias was assessed with the revised Cochrane risk-of-bias tool. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework was used to assess trial quality. Thirteen randomised controlled trials (861 patients; 418 erector spinae plane block, 215 no blocks, 228 other blocks) were included. Erector spinae plane block reduced postoperative pain compared with no block: at 0-2 hours (mean difference (95% CI) -1.63 (-2.97 to -0.29), 6 studies, 329 patients, high-quality evidence, I2 = 98%, p = 0.02); at 6 hours (mean difference (95% CI) -0.90 (-1.49 to -0.30), 5 studies, 250 patients, high-quality evidence, I2 = 91%, p = 0.003); at 12 hours (mean difference (95% CI) -0.46 (-0.67 to -0.25), 5 studies, 250 patients, high-quality evidence, I2 = 58%, p < 0.0001); and at 24 hours (mean difference (95% CI) -0.50 (-0.70 to -0.30), 6 studies, 329 patients, high-quality evidence, I2 = 76%, p < 0.00001). Compared with no block, erector spinae plane block also showed significantly lower postoperative oral morphine equivalent requirements (mean difference (95% CI) -21.55mg (-32.57 to -10.52), 7 studies, 429 patients, high-quality evidence, I2 = 99%, p = 0.0001). Separate analysis of studies comparing erector spinae plane block with pectoralis nerve block and paravertebral block showed that its analgesic efficacy was inferior to pectoralis nerve block and similar to paravertebral block. The incidence of pneumothorax was 2.6% in the paravertebral block group; there were no reports of complications of the other blocks. This review has shown that the erector spinae plane block is more effective at reducing postoperative opioid consumption and pain scores up to 24 hours compared with general anaesthesia alone. However, it was inferior to the pectoralis nerve block and its efficacy was similar to paravertebral block. Further evidence, preferably from properly blinded trials, is required to confirm these findings.
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Analgesia/métodos , Mama/cirurgia , Bloqueio Nervoso/métodos , Dor Pós-Operatória/prevenção & controle , Músculos Paraespinais/efeitos dos fármacos , Adulto , Feminino , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: Limited information exists regarding survival of Asian patients with mycosis fungoides (MF) and Sézary syndrome (SS). OBJECTIVE: To evaluate the epidemiology, outcome and prognostic factors of these patients. METHODS: A retrospective review of MF/SS cases diagnosed from 2000 to 2011 at a tertiary referral dermatology centre in Singapore was performed. RESULTS: Of 246 patients, 63% were male and the median age at diagnosis was 49 years. 73.2% were Chinese, 12.6% Indian, 6.9% Malay and 7.3% Caucasian. A total of 239 patients (97.2%) had MF and seven had SS. Median follow-up duration was 6.3 years, and median duration of symptoms at diagnosis was 13 months. For patients with MF, the majority had early disease (92.8% stage IA-IIA). 3.8% were stage IIB, 1.7% stage III and 1.7% stage IV. Complete response to treatment occurred in 78.2%, partial response in 9.6%, persistent but non-progressive disease in 10.0% and disease progression in 4.1% of patients. Large cell transformation occurred in 4.1% of patients. Mean overall survival during this study was 12.7 years, with death occurring in 2.5% of patients (all ≥stage IIB at diagnosis). For patients with SS, 71.4% presented with stage IVA disease, 28.6% stage IVB. Complete response to treatment occurred in 14.2%, persistent but non-progressive disease in 28.6% and disease progression in 57.2% of patients. Mean overall survival was 3.3 years within this study, with death occurring in 42.9% of SS patients. Prognostic factors associated with favourable recurrence-free survival were male gender (P = 0.008), early disease stage (T1) at diagnosis (P < 0.001) and absence of maintenance treatment after remission (P = 0.01). CONCLUSION: Compared to Caucasian and East Asian cohorts, MF in South-East Asians was diagnosed at a younger age and associated with lower mortality, largely due to greater prevalence of hypopigmented MF.
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Povo Asiático , Micose Fungoide/epidemiologia , Síndrome de Sézary/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Micose Fungoide/patologia , Micose Fungoide/terapia , Prognóstico , Estudos Retrospectivos , Síndrome de Sézary/patologia , Síndrome de Sézary/terapia , Adulto JovemRESUMO
AIM: This study reviews the surgical outcomes of using dorsal buttress plate for open reduction and internal fixation of ulnar (5th, or 4th and 5th) CMCJ fracture subluxation or dislocations. METHODS: A retrospective review of 11 patients at our center who underwent operative fixation with dorsal buttress plating technique was performed. The surgery was performed between February 2012 and March 2017. Outcome measurements include radiographic evaluation of time to union, grip strength, and range of motion of the wrist. RESULTS: Of 11 patients in our case series, eight had injuries involving both 4th and 5th CMCJs, while three had isolated involvement of 5th CMCJ. Mean time to union on radiographs was 48 days (IQR 17.0; range 30-88). The median palmar flexion and dorsiflexion of the wrist were 56° (IQR 11.3; range 50°-80°) and 65° (IQR 10.0; range 60°-80°) respectively. Patients regained a median of 79% of grip strength (IQR: 36.0, range 43-100). All fingers achieved full range of motion, and no patient had scissoring of the fingers. Two patients had temporary mild numbness over the dorsoulnar aspect of the hand in the region of the 4th webspace. Five patients underwent removal of implants due to plate breakage (n = 2), or mild pain or pain with cold (n = 3). All patients were well after plate removal, and all the patients with pain had resolution of pain after implant removal. CONCLUSION: The dorsal buttress plate is a viable option for fixation of ulnar CMCJ fracture dislocations to allow early mobilization.
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Placas Ósseas , Articulações Carpometacarpais/lesões , Deambulação Precoce , Fratura-Luxação/cirurgia , Fixação Interna de Fraturas/métodos , Adulto , Articulações Carpometacarpais/diagnóstico por imagem , Fratura-Luxação/diagnóstico por imagem , Fratura-Luxação/etiologia , Fixação Interna de Fraturas/instrumentação , Consolidação da Fratura , Humanos , Masculino , Pessoa de Meia-Idade , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/terapia , Cuidados Pós-Operatórios , Radiografia , Amplitude de Movimento Articular , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Articulação do Punho/fisiopatologia , Adulto JovemRESUMO
We investigated the effect of an interfragmentary gap on the final compression force using the Acutrak 2 Mini headless compression screw (length 26 mm) (Acumed, Hillsboro, OR, USA). Two blocks of solid rigid polyurethane foam in a custom jig were separated by spacers of varying thickness (1.0, 1.5, 2.0 and 2.5 mm) to simulate an interfragmentary gap. The spacers were removed before full insertion of the screw and the compression force was measured when the screw was buried 2 mm below the surface of the upper block. Gaps of 1.5 mm and 2.0 mm resulted in significantly decreased compression forces, whereas there was no significant decrease in compression force with a gap of 1 mm. An interfragmentary gap of 2.5 mm did not result in any contact between blocks. We conclude that an increased interfragmentary gap leads to decreased compression force with this screw, which may have implications on fracture healing.
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Parafusos Ósseos , Fixação Interna de Fraturas/instrumentação , Fraturas Ósseas/cirurgia , Osso Escafoide/lesões , Suporte de Carga , Desenho de Equipamento , Humanos , Teste de Materiais , Modelos AnatômicosRESUMO
Cockayne Syndrome (CS) is an autosomal recessive disorder that causes neurological regression, growth failure and dysmorphic features. We describe a Chinese female child with CS caused by deletions of exon 4 of ERCC8 on one chromosome and exons 1-12 on the other chromosome. By using chromosomal microarray, multiplex ligation-dependant probe analysis and long range PCR, we showed that she inherited a 277 kb deletion affecting the whole ERCC8 gene from the mother and a complex rearrangement resulting in deletion of exon 4 together with a 1,656 bp inversion of intron 4 from the father. A similar complex rearrangement has been reported in four unrelated Japanese CS patients. Analysis of the deletion involving exon 4 identified LINE and other repeat elements that may predispose the region to deletions, insertions and inversions. The patient also had insulin-dependent diabetes mellitus, a rare co-existing feature in patients with CS. More research will be needed to further understand the endocrine manifestations in CS patients.
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Cromossomos Humanos Par 4/genética , Síndrome de Cockayne/genética , Enzimas Reparadoras do DNA/genética , Deleção de Sequência , Inversão de Sequência , Fatores de Transcrição/genética , Pré-Escolar , Comorbidade , Diabetes Mellitus/genética , Éxons , Feminino , Humanos , Elementos Nucleotídeos Longos e DispersosAssuntos
Fármacos Dermatológicos/administração & dosagem , Hidroquinonas/administração & dosagem , Vitiligo/tratamento farmacológico , Administração Cutânea , Adolescente , Adulto , Idoso , Criança , Fármacos Dermatológicos/efeitos adversos , Feminino , Humanos , Hidroquinonas/efeitos adversos , Masculino , Concentração Máxima Permitida , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemAssuntos
Neurodermatite/tratamento farmacológico , Tacrolimo/administração & dosagem , Administração Cutânea , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Humanos , Imunossupressores/administração & dosagem , Masculino , Pessoa de Meia-Idade , Neurodermatite/diagnóstico , Escroto , Adulto JovemRESUMO
IEM screening by ESI/MS/MS was introduced in Singapore in 2006. There were two phases; a pilot study followed by implementation of the current program. The pilot study was over a 4 year period. During the pilot study, a total of 61,313 newborns were screened, and 20 cases of IEM were diagnosed (detection rate of 1:3065; positive predictive value (PPV) of 11%). Regular self-review, participation in external quality assessment and the Region 4 Genetic collaborative programs (http://www.region4genetics.org/) had led to the robust development of our current NBS MS/MS program. Overall, from July 2006 to April 2014, we screened a total of 177,267 newborns. The mean age at the time of sampling was 47.9h. Transportation of samples to the testing laboratory averaged 0.92 day. Upon receipt of sample, the NBS result was available within 1.64 days and within 3.8 days if a second tier test was required. Using absolute cut-off values in place of the initial 99th percentile reference range for the analyte markers and the introduction of two 2nd tier tests (MMA and Succinylacetone) had significantly reduced the high recall rate from an initial 1.5% during the period 2006-07 to 0.12% in 2013. The NBS MS/MS program was supported by a centralized confirmatory/diagnostic testing laboratory and a rapid response team of metabolic specialists. The detection rate was 1: 3165 (1:2727 if maternal conditions were also included). There were 23 newborns affected with organic acidemias (incidence: 1:6565), 23 with fatty acid oxidation disorders (incidence: 1:6565), and 10 with amino acidopathies (incidence 1:17,726). The performance metrics for the screening test were acceptable (sensitivity: 95.59%, specificity: 99.85%, PPV: 20%, FPR: 0.15). Participation in the NBS MS/MS program by hospitals was voluntary, and in 2013, the uptake rate was 71% of the annual births. We hope that newborn screening by MS/MS will become a standard of care for all babies in Singapore.
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Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Espectrometria de Massas por Ionização por Electrospray , Espectrometria de Massas em Tandem , Algoritmos , Humanos , Incidência , Recém-Nascido , Programas de Rastreamento , Erros Inatos do Metabolismo/epidemiologia , Triagem Neonatal/métodos , Triagem Neonatal/normas , Projetos Piloto , Prevalência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Singapura/epidemiologiaRESUMO
Weekly (August 2003-December 2008) numbers of five common paediatric diseases and the incidence of respiratory viruses were obtained from a children's hospital in Singapore and correlated with climate data using multivariate time-series techniques. Upper respiratory tract infections were positively correlated with the incidences of influenza A, B, respiratory syncytial virus (RSV) and parainfluenza viruses (types 1-3 combined). Lower respiratory tract infections were positively correlated with only the incidence of RSV. Both upper and lower respiratory tract infections were negatively correlated with relative humidity. Asthma admissions were negatively correlated with maximum temperature and positively correlated with the incidence of influenza B and increasing hours of sunshine. Although sporadic cases of adenovirus infection were identified, not enough cases were available for a more detailed analysis. Gastroenteritis and urinary tract infections, included as control diseases, were not correlated significantly with any climate parameters. These correlations are compatible with current understanding of respiratory virus survival under certain climate conditions and may assist the prediction of disease burdens and hospital resource planning in such tropical environments.
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Infecções por Paramyxoviridae/epidemiologia , Infecções por Vírus Respiratório Sincicial/epidemiologia , Infecções Respiratórias/epidemiologia , Estações do Ano , Clima Tropical , Adolescente , Asma/epidemiologia , Criança , Pré-Escolar , Feminino , Gastroenterite/epidemiologia , Humanos , Umidade , Incidência , Influenza Humana/epidemiologia , Masculino , Análise Multivariada , Estudos Retrospectivos , Singapura/epidemiologia , Infecções Urinárias/epidemiologiaRESUMO
Background. Little is known about the diagnostic accuracy of global LV function assessment by electromechanical endocardial mapping (EEM). The aim of the present study was to determine the relationship between global left ventricular (LV) function measured by EEM and biplane left ventricular contrast angiography (LVA) after ST-elevation myocardial infarction (STEMI).Methods. Thirty-seven patients underwent LVA and EEM during routine coronary angiography four months after primary percutaneous intervention for STEMI. Global LV function parameters were available from both techniques in all patients. LVA was regarded as reference standard.Results. All procedures were carried out without adverse events. Average age was 55+/-10 years and 84% were male. EEM showed an overestimation of end-diastolic volume (EDV) and end-systolic volume (ESV) of 6.5 ml and 25.5 ml, respectively. Correlation (r) was 0.84 (p<0.001) for EDV and 0.74 (p<0.001) for ESV. Average left ventricular ejection fraction (LVEF) measured by EEM was 17.2% point (+/-11.3% point) lower compared with LVA (r=0.69, p<0.001).Conclusion. Although global functional parameters by EEM correlated well with LVA, the relatively large differences in terms of absolute values for ventricular volumes and LVEF render the two techniques non-interchangeable for global LV-function-data. (Neth Heart J 2010;18:72-77.).
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Aim. To investigate long-term outcome and to determine predictors of successful pulmonary vein isolation (PVI) in patients with symptomatic paroxysmal or persistent atrial fibrillation (AF) who are refractory or intolerant to antiarrhythmic drugs.Background. The treatment of AF has traditionally been pharmacological aimed at rate or rhythm control. However, rhythm control remains difficult to establish. PVI is reported to be effective in selected patient groups.Methods. Ninety-nine consecutive patients with a mean age of 54+/-10 years who had paroxysmal or persistent AF were treated in the University Medical Center Groningen. All patients underwent PVI by the same electrophysiologist. Successful PVI was defined as absence of AF on Holter or electrocardiogram (ECG), and no symptoms of AF.Results. After six months of follow-up, 60 (61%) patients were free of AF episodes, both on 96-hour Holter monitoring and on ECGs, and had no symptoms related to AF. Thirty-nine of these 60 patients (65%) were no longer treated with any class I or III antiarrhythmic drugs. Independent determinants of successful PVI were paroxysmal AF (OR 18 [3.5-93], p=0.001), and left pulmonary vein ablation time >55 minutes (OR 15 [2.7-81], p=0.002). Left atrial (parasternal view 42+/-6 vs. 40+/-5 mm, p<0.05 and apical view 61+/-9 vs. 58+/-8 mm, p<0.05) and right atrial (59+/-7 vs. 56+/-5 mm, p<0.05) sizes decreased significantly in the successfully treated patients after six months of follow-up.Conclusion. Independent determinants of a successful outcome after PVI are paroxysmal AF and a longer left atrial ablation time. (Neth Heart J 2009;17:366-72.).
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OBJECTIVES: To compare Angio-Seal (AS) and StarClose (SC) and manual compression (MC) on efficacy of hemostasis, complication rate, safety of early mobilization, and patient comfort. BACKGROUND: Closure of the femoral artery after cardiac catheterization can be obtained through different methods. Today, physicians can choose from a number of different devices to achieve arterial closure. METHODS: In a prospective trial 450 patients were randomized to AS, SC, or MC. Patients were mobilized 1 to 2 hr after device placement, and 6 hr after MC. Data were collected during hospital admission and by telephone at one month after hospital discharge. RESULTS: Devices were used in 138/150 allocated to AS and 124/150 allocated to SC patients (92% vs. 83%, P = 0.015) Patients with MC experienced more pain during sheath removal than patients receiving a device, and rated their period of bed rest as less comfortable. Oozing and need for pressure bandage at the puncture site were observed in 37 AS patients and 57 SC patients (25% vs. 38%, P = 0.002). Hematoma occurred in 15 AS patients, in 17 SC patients, and in 14 MC patients (11 vs. 14 vs. 9%, ns). CONCLUSION: There is no difference in safety between the three methods of arterial closure. SC was more often not used or successfully deployed. SC patients more often had continuing oozing. On patient comfort, closure devices performed better than MC. Early ambulation in patients with a closure device is safe. AS is the preferred method of arterial closure after cardiac catheterization.
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Cateterismo Cardíaco/efeitos adversos , Artéria Femoral , Hemorragia/prevenção & controle , Técnicas Hemostáticas , Pressão , Punções/efeitos adversos , Idoso , Deambulação Precoce , Desenho de Equipamento , Feminino , Hematoma/etiologia , Hemorragia/etiologia , Técnicas Hemostáticas/efeitos adversos , Técnicas Hemostáticas/instrumentação , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Medição da Dor , Satisfação do Paciente , Estudos Prospectivos , Projetos de Pesquisa , Fatores de Tempo , Resultado do TratamentoRESUMO
Diagnosis of Non-Ketotic Hyperglycinemia by MSMS newborn screening might benefit patients with post-neonatal presentation. We screened 733,527 babies over eight years, and nine babies were subsequently diagnosed with NKHG. Two had newborn glycine levels above our cut-off and presented within 72 h. The remaining patients could not have been diagnosed by newborn screening without an unacceptably high recall rate. We conclude that babies with NKHG are not usually identifiable by current newborn screening strategies.
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Glicina/sangue , Hiperglicinemia não Cetótica/diagnóstico , Triagem Neonatal , Humanos , Lactente , Recém-Nascido , Espectrometria de Massas em Tandem/métodosRESUMO
INTRODUCTION: This study aims to study whether knowledge that upper respiratory tract infection (URTI) resolves on its own is associated with more appropriate antibiotic cognition and treatment-seeking behaviour in adult patients seeking consultation for upper respiratory tract symptoms in all nine polyclinics of the National Healthcare Group in Singapore. METHODS: A prospective study of 595 adult patients who attended for URTI symptoms of less than seven days duration was performed. We collected data using an interviewer-administered structured questionnaire eliciting the participant's personal and demographical data, his knowledge about URTI, past experience with URTI and treatment-seeking behaviour for this current episode of URTI. These variables were then regressed against the variable "URTI resolves on its own", adjusting for "antibiotics relieve URTI faster", "antibiotic used unnecessarily for URTI", "recovery faster with antibiotics" for antibiotic cognition; and "number of days with URTI", "first line of action: self-medicate", "reason for attendance: felt unwell", "reason for attendance: get well faster" and "used prescribed medication before current visit" for health-seeking behaviour. RESULTS: More than one-third of patients believed that URTI resolved on its own. Subjects who believed that URTI resolved on its own were not significantly different in terms of gender, ethnic group, educational status, age, knowledge of germs as causal, and number of days sick before attendance. However, such patients were 1.68 times (confidence interval [CI] 1.17, 2.41) more likely to agree that, nowadays, antibiotics are used unnecessarily for "flu", and 2.07 times (CI 1.32, 3.24) more likely to self-medicate. They were 0.51 (CI 0.35, 0.76) times more likely to be dependant on prescribed medication. CONCLUSION: Knowledge that URTI resolves on its own is associated with more appropriate antibiotic cognition and health-seeking behaviour.
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Antibacterianos , Educação em Saúde , Conhecimentos, Atitudes e Prática em Saúde , Aceitação pelo Paciente de Cuidados de Saúde , Infecções Respiratórias/prevenção & controle , Adulto , Idoso , Idoso de 80 Anos ou mais , Cognição , Feminino , Humanos , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Infecções Respiratórias/tratamento farmacológico , Infecções Respiratórias/psicologia , Automedicação , Singapura , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a carrier frequency of about 1 in 50. The International SMA Consortium classification defines several types of SMA depending on the age of onset and clinical severity. In the past, the diagnosis of SMA was confirmed by muscle biopsy and, sometimes, electromyography. In 1990, SMA was linked to the 5q13 region of chromosome 5. In 1995, it was found that >95% of patients with SMA have homozygous deletions of exons 7 and 8 of the survival motor neurone 1 (SMN1) gene, one of the candidate genes identified within 5q13. The purpose of our study was to determine the frequency of SMN1 deletions in patients with known SMA and the impact of this on the diagnosis of SMA. MATERIALS AND METHODS: Molecular analysis was performed on stored DNA and case notes were reviewed retrospectively. RESULTS: Twenty-two (91.7%) out of 24 patients with all types of SMA were homozygously deleted for exons 7 and/or 8 of SMN1. We also report our experience with prenatal diagnosis of SMA. CONCLUSIONS: Molecular studies can replace conventional investigations for SMA and have made the option of prenatal diagnosis possible for couples at risk.
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Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , DNA/análise , Deleção de Genes , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA/genética , Atrofias Musculares Espinais da Infância/genética , Adulto , Idade de Início , Biópsia , Pré-Escolar , Eletromiografia , Éxons/genética , Feminino , Seguimentos , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Reação em Cadeia da Polimerase , Gravidez , Estudos Retrospectivos , Proteínas do Complexo SMN , Singapura/epidemiologia , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/epidemiologia , Taxa de Sobrevida , Proteína 1 de Sobrevivência do Neurônio MotorRESUMO
BACKGROUND/OBJECTIVES: Vascular endothelial growth factor (VEGF) is a potent angiogenic factor. VEGF gene therapy improves perfusion of ischaemic myocardium in experimental models and possibly in patients with end-stage coronary artery disease. In addition to its proliferative and migratory effect on endothelial cells, it also activates and upregulates eNOS. Therefore, we investigated coronary endothelium-dependent vasodilatation in patients before and after VEGF gene therapy. METHODS: The effect of intracoronary acetylcholine infusion on coronary diameter was assessed at baseline and after three months of follow-up in patients with end-stage coronary artery disease treated with VEGF gene and in controls scheduled for elective PTCA (acetylcholine test at diagnostic angiography and before a subsequently scheduled PTCA). RESULTS: Eight out of ten VEGF patients experienced a reduction in anginal symptoms. Angiographic evidence for improved collateral filling was evident in two out of six patients. The vasoconstrictive response to acetylcholine was partly converted into dilatation. In contrast, the acetylcholine response in control patients remained vasoconstrictive. CONCLUSION: VEGF gene therapy has an important beneficial effect on the functional characteristics of the myocardial vascular network. Therefore, this therapy can potentially play an important role in all stages of the atherosclerotic process.
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BACKGROUND: An intracardial electromechanical mapping system has recently been introduced which offers the ability to perform on-line myocardial viability assessment in the catheterisation laboratory. Only a small number of studies have been performed to validate this potentially very useful technique. AIM: We sought to assess the correlation between viability assessment performed with both positron emission tomography (PET) and electromechanical cardiac mapping (EMM) in patients suffering from severe coronary artery disease, since PET is considered the golden standard in myocardial viability assessment. METHODS: Patients undergoing both EMM and PET analysis were systematically scanned for viability assessment. EMM analysis was performed for both linear local shortening and unipolar voltage. PET analysis consisted of dipyridamole stress and fluoro-deoxy-d-glucose (FDG) measurements. All data were converted to nine-segment bull's-eye maps to allow comparison. One single operator analysed all the data, blinded for clinical status. RESULTS: 34 patients suffering from severe coronary artery disease underwent both PET and EMM analysis. In total 253 EMM segments had more than four contact points and could be used for analysis. Unipolar voltage showed a trend towards lower values in infarcted segments; however, linear local shortening did not show any correlation. CONCLUSION: In this study viability assessment by EMM did not correspond with PET analysis. Although the advantage of having some form of online myocardial assessment is evident, operators should bare in mind that the quantitative EMM measurements are not an absolute substitute for nuclear imaging.
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UNLABELLED: Twenty-five patients (16 males, mean age 46 years) underwent radiofrequency ablation because of either paroxysmal (13 patients) or persistent atrial fibrillation (12 patients). Ablation aimed at earliest activation of spontaneous and catheter-induced repetitive ectopy in left and right atria and appendages, and pulmonary veins. Catheter-induced repetitive ectopy was defined as acute onset of a burst of rapid atrial premature beats on touching the wall, sustained irritability while at the spot and acute termination of rapid activity upon release of the catheter. Post-ablation patients received antiarrhythmic drugs to prevent tachycardias, thereby allowing reversal of atrial remodeling. RESULTS: Lone atrial fibrillation was present in 19 patients, 4 patients had hypertension and 2 patients coronary artery disease with preserved left ventricular function. The median duration of the history of atrial fibrillation was 4 years (range 1-14 years) and the median number of antiarrhythmic drug failures 5 (range 1-6). Ablation was successful, i.e. no recurrences of atrial fibrillation with or without antiarrhythmic drugs in eight patients (32%) during a median follow-up of 28 months (range 18-52). The median number of foci was 3 (range 2-6) and 2 (range 1-7) in the successfully and unsuccessfully treated patients, respectively. Minor complications occurred in three patients. CONCLUSIONS: Radiofrequency ablation of atrial fibrillation aiming at spontaneous and catheter-induced repetitive ectopy is a safe procedure. However, it is only successful in one third of the patients. Further investigations are warranted to identify the ideal patient, as well as to develop better ablation strategies.