Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 30
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
3.
Ir J Med Sci ; 2019 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-31721041

RESUMO

BACKGROUND: Subjects with severe obesity (BMI > 40 kg/m2) have worse physical function and sleep less than lean people (BMI 18.5-25 kg/m2). METHODS: In 554 subjects with severe obesity, we compared physical function in those with normal sleep duration (NSD, 6-9 h/night), short sleep duration (SSD, ≤ 6 h/night) and long sleep duration (LSD, ≥ 9 h/night). RESULTS: The mean (±SD) age and BMI were 43.1 (± 11.1) years and 50.9 ± 8.6 kg/m2 respectively. One hundred ninety-six (35.4%) were male. More subjects in the NSD group (n = 256) were able to ascend and descend a step 50 times than in the SSD group (n = 247) or the LSD group (n = 51, 75.5% vs 62.8% vs 56.9%, p = 0.002). A similar observation was made for step speed (0.45 ± 0.11 vs 0.43 ± 0.10 vs 0.40 ± 0.11 steps/s respectively, p = 0.001). NSD participants were less likely to have fallen in the preceding year compared to LSD participants (21.1% vs 39.2%, p = 0.007) and also reported less low back pain compared to SSD participants (60.8% vs 75.9%, p = 0.004). CONCLUSIONS: In conclusion, abnormal sleep duration is associated with reduced physical function in non-elderly severely obese subjects. The effects of sleep hygiene interventions in this cohort warrant further assessment and may be beneficial to their physical function.

4.
Age Ageing ; 48(5): 756-757, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31081509

RESUMO

Syndrome of inappropriate antidiuretic hormone (SIADH) is the most common cause of hyponatraemia. There are many causes of SIADH, but investigation tends to focus around the most common causes-particularly diseases of the brain and lung, malignancy and medication-induced SIADH [Ellison and Berl (2007, The Syndrome of Inappropriate Antidiuresis. N Engl J Med., 356, 2064-72]. We describe a case of SIADH secondary to atonic bladder in an 83-year old woman, which was discovered on MRI of the abdomen, performed for further characterisation of a known pancreatic lesion. Insertion of a urinary catheter alleviated retention and resulted in prompt resolution of hyponatraemia. This is an under-recognised cause of this common condition, with important implications for investigation and management.

6.
Int J Geriatr Psychiatry ; 33(8): 1105-1113, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29856102

RESUMO

BACKGROUND: The dramatic shift in the global population demographic has led to increasing numbers of older people undergoing hospitalisation and surgical procedures. While necessary, these exposures may lead to an increase in depressive symptoms. OBJECTIVES: To determine whether hospitalisation or hospitalisation with surgery under general anaesthesia is associated with an increase in depressive symptoms in adults over the age of 50. METHODS: Depressive symptoms were assessed using the Center for Epidemiologic Studies Depression Scale in 8036 individuals at waves 1 and 2 of The Irish Longitudinal Study on Ageing (TILDA), 2 years apart. Mixed-effects models were used to investigate the hypothesis after adjustment for risk factors for depression and potential confounders. RESULTS: During the 12 months preceding wave 1, a total of 459 participants were hospitalised (mean age, 67.0; 55.3% female), and a further 548 participants (mean age, 64.6; 51.8% female) were hospitalised and underwent surgery with general anaesthesia; 6891 (mean age, 63.5; 54.3% female) were not hospitalised. Analysis of waves 1 and 2 data using mixed-effects models demonstrated that there was a 7% increased adjusted incidence rate of depressive symptoms (IRR [95% CI] = 1.07 [1.02-1.11]) in the Center for Epidemiologic Studies Depression Scale in the hospitalisation group and a 4% increased adjusted incidence rate of depressive symptoms (IRR [95% CI] = 1.04 [1.00-1.08]) in the surgery group compared with those with no hospitalisation. CONCLUSION: Hospitalisation and hospitalisation with surgery and general anaesthesia are associated with increased depressive symptoms. This is the first time a longitudinal population-representative study has demonstrated this relationship for both exposures simultaneously.


Assuntos
Transtorno Depressivo/epidemiologia , Hospitalização/estatística & dados numéricos , Procedimentos Cirúrgicos Operatórios/psicologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Irlanda/epidemiologia , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores de Risco
7.
Age Ageing ; 47(3): 408-415, 2018 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-29546387

RESUMO

Background: the dramatic shift in the global population demographic has led to increasing numbers of older people undergoing hospitalisation and surgical procedures. Objectives: to determine whether hospitalisation or hospitalisation with surgery under general anaesthesia is associated with poorer cognitive performance in adults over the age of 50. Methods: cognitive function in the domains of global cognition, memory and executive function was assessed in 8,023 individuals at waves 1 and 2 of The Irish Longitudinal Study on Ageing (TILDA), 2 years apart. Mixed-effects models were used to investigate the hypothesis after adjustment for risk factors for cognitive decline and potential confounders. Results: during the 12 months preceding wave 1, 472 participants were hospitalised (mean age 67.0, 54.9% female) and a further 560 participants (mean age 64.6, 52.1% female) were hospitalised and underwent surgery with general anaesthesia; 6,938 (mean age 63.5, 54.5% female) were not hospitalised. There was a 14% higher error rate (IRR[95% CI] = 1.14[1.06, 1.22]) in the MMSE in the hospitalisation group and a 6% higher error rate (IRR[95% CI] = 1.06[0.99, 1.13]) in the surgery group compared to those with no hospitalisation. Poorer cognitive performance in the memory tasks was evident in both hospitalisation and hospitalisation with surgery groups (immediate recall: [95% CI] = -0.13 words[-0.22,-0.04] versus -0.13 words[-0.21,-0.04] and delayed recall: -0.20 words[-0.33,-0.06] versus -0.20[-0.32, -0.07]) compared to those with no hospitalisation. Increased error in the time-based prospective memory task was observed in the hospitalisation group and the surgery group (OR[95% CI] = 1.32[1.08, 1.60] versus 1.29[1.07, 1.55]). Conclusion: hospitalisation and hospitalisation with surgery and general anaesthesia are associated with poorer global and domain specific cognitive performance.


Assuntos
Anestesia Geral/efeitos adversos , Transtornos Cognitivos/epidemiologia , Cognição , Envelhecimento Cognitivo/psicologia , Hospitalização , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Fatores Etários , Idoso , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Função Executiva , Feminino , Humanos , Irlanda/epidemiologia , Estudos Longitudinais , Masculino , Memória , Pessoa de Meia-Idade , Prognóstico , Medição de Risco , Fatores de Risco , Fatores de Tempo
8.
J Med Ethics ; 44(3): 201-203, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29101301

RESUMO

Following the introduction of do-not-resuscitate (DNR) orders in the 1970s, there was widespread misinterpretation of the term among healthcare professionals. In this brief report, we present findings from a survey of healthcare professionals. Our aim was to examine current understanding of the term do-not-attempt-resuscitate (DNAR), decision-making surrounding DNAR and awareness of current guidelines. The survey was distributed to doctors and nurses in a university teaching hospital and affiliated primary care physicians in Dublin via email and by hard copy at educational meetings from July to December 2014. A total of 519 completed the survey. The response rate in the hospital doctors group was 35.5% (187/527), 19.8% (292/1477) in the nurses group but 68.8% (150/218) in the specialist nurses group and 40% (40/100) in the primary care physician group.Alarmingly, our results demonstrate that 26.8% of staff nurses and 30% of primary care physicians surveyed believed that a patient with a DNAR order could not receive any/at least one of a list of simple treatments including antibiotics, physiotherapy, intravenous fluids, pain relief, oxygen, nasogastric feeding or airway suctioning, which were higher percentages compared to the other hospital doctors and experienced nurses groups with statistically significant differences (p<0.001). Furthermore, a higher percentage of staff nurses (26.8%) and primary care physicians (22.5%) believed that a patient with a DNAR order could not be referred to hospital from home/a nursing home, when compared with other healthcare groups (p<0.001). Our findings highlight continued misunderstanding and over-interpretation of DNAR orders. Further collaboration and information is required for meaningful Advance Care Plans.


Assuntos
Tomada de Decisão Clínica/ética , Fidelidade a Diretrizes , Futilidade Médica/ética , Ordens quanto à Conduta (Ética Médica)/ética , Atitude do Pessoal de Saúde , Compreensão , Fidelidade a Diretrizes/ética , Pesquisas sobre Serviços de Saúde , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Comunicação Interdisciplinar , Irlanda , Futilidade Médica/psicologia , Pesquisa Qualitativa , Ordens quanto à Conduta (Ética Médica)/psicologia
9.
Transfusion ; 58(2): 284-293, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29119571

RESUMO

BACKGROUND: We previously demonstrated that targeted exome sequencing accurately defined blood group genotypes for reference panel samples characterized by serology and single-nucleotide polymorphism (SNP) genotyping. Here we investigate the application of this approach to resolve problematic serology and SNP-typing cases. STUDY DESIGN AND METHODS: The TruSight One sequencing panel and MiSeq platform was used for sequencing. CLC Genomics Workbench software was used for data analysis of the blood group genes implicated in the serology and SNP-typing problem. Sequence variants were compared to public databases listing blood group alleles. The effect of predicted amino acid changes on protein function for novel alleles was assessed using SIFT and PolyPhen-2. RESULTS: Among 29 unresolved samples, sequencing defined SNPs in blood group genes consistent with serologic observation: 22 samples exhibited SNPs associated with varied but known blood group alleles and one sample exhibited a chimeric RH genotype. Three samples showed novel variants in the CROM, LAN, and RH systems, respectively, predicting respective amino acid changes with possible deleterious impact. Two samples harbored rare variants in the RH and FY systems, respectively, not previously associated with a blood group allele or phenotype. A final sample comprised a rare variant within the KLF1 transcription factor gene that may modulate DNA-binding activity. CONCLUSION: Targeted exome sequencing resolved complex serology problems and defined both novel blood group alleles (CD55:c.203G>A, ABCB6:c.1118_1124delCGGATCG, ABCB6:c.1656-1G>A, and RHD:c.452G>A) and rare variants on blood group alleles associated with altered phenotypes. This study illustrates the utility of exome sequencing, in conjunction with serology, as an alternative approach to resolve complex cases.


Assuntos
Alelos , Antígenos de Grupos Sanguíneos/genética , Tipagem e Reações Cruzadas Sanguíneas/métodos , Eritrócitos , Exoma , Sequenciamento de Nucleotídeos em Larga Escala , Polimorfismo de Nucleotídeo Único , Humanos
10.
Transfusion ; 58(3): 685-691, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29214630

RESUMO

BACKGROUND: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies. STUDY DESIGN AND METHODS: The 3'-region of the RHD gene was amplified by long-range polymerase chain reaction (PCR) for massively parallel sequencing. Primers were designed to encompass a deletion, flanking Exon 9, by standard PCR for Sanger sequencing. Targeted sequencing of exons and flanking introns was also performed. RESULTS: Genomic DNA exhibited a 1012-bp deletion spanning from Intron 8, across Exon 9 into Intron 9. The deletion breakpoints occurred between two 25-bp repeat motifs flanking Exon 9 such that one repeat sequence remained. CONCLUSION: Deletion mutations bordered by repeat sequences are a hallmark of slipped-strand mispairing (SSM) event. We propose this genetic mechanism generated the germline deletion in the Caucasian donor. Extensive studies show that the RHD*1227A is the most prevalent DEL allele in East Asian populations and may have confounded the initial molecular studies. Review of the literature revealed that the SSM model explains some of the extreme polymorphisms observed in the clinically significant RhD blood group antigen.


Assuntos
Sequência de Bases , Éxons , Polimorfismo Genético , Sistema do Grupo Sanguíneo Rh-Hr/genética , Deleção de Sequência , Humanos , Taiwan
11.
Prenat Diagn ; 37(12): 1245-1253, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29096422

RESUMO

OBJECTIVE: To undertake a cost-effectiveness analysis of noninvasive fetal RHD genotyping to target pregnant women for antenatal anti-D prophylaxis therapy. METHOD: A decision-analytic model was constructed to compare RHD testing and targeted anti-D prophylaxis, with current universal anti-D prophylaxis among pregnant women with RhD negative blood type. Model estimates were derived from national perinatal statistics, published literature, donor program records, and national cost sources. One-way sensitivity analyses addressed the uncertainty of variables on the main findings. RESULTS: The unit cost for RHD genotyping was estimated at AU$45.48 (US$31.84). The "mean cost per healthy baby" was AU$7495 (US$5247) for universal prophylaxis and AU$7471 (US$5230) for targeted prophylaxis. The findings were sensitive to the unit costs of anti-D 625 IU (AU$59-AU$88) (US$41-US$62), the genetic test (AU$36-AU$55) (US$25-US$39), and packaging/transport costs of the samples for testing (AU$15-AU$40, US$11-US$28 per sample). With RHD genotyping, 13 938 women would avoid antenatal anti-D prophylaxis at a total cost savings to the National Blood Authority of AU$2.1 million (US$1.5 million) per year. To the health system, net cost savings of AU$159 701 (US$111 791) per year (0.05%) were predicted for total health care costs. CONCLUSIONS: Given the vulnerable supply of donor plasma and other health concerns, RHD genotyping is an economically sound option for Australia.


Assuntos
Eritroblastose Fetal/prevenção & controle , Técnicas de Genotipagem/economia , Sistema do Grupo Sanguíneo Rh-Hr/genética , Estudos de Coortes , Análise Custo-Benefício , Técnicas de Apoio para a Decisão , Eritroblastose Fetal/economia , Feminino , Humanos , Testes para Triagem do Soro Materno/economia , Gravidez
12.
Pathology ; 49(7): 757-764, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29096879

RESUMO

Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping accuracy using two blood sample collection tube types for RhD negative women stratified into deleted RHD gene haplotype and RHD gene variant cohorts. Maternal blood samples were collected into EDTA and cell-free (cf)DNA stabilising (BCT) tubes from two sites, one interstate. Automated DNA extraction and polymerase chain reaction (PCR) were used to amplify RHD exons 5 and 10 and CCR5. Automated analysis flagged maternal RHD variants, which were classified by genotyping. Time between sample collection and processing ranged from 2.9 to 187.5 hours. cfDNA levels increased with time for EDTA (range 0.03-138 ng/µL) but not BCT samples (0.01-3.24 ng/µL). For the 'deleted' cohort (n=647) all fetal RHD genotyping outcomes were concordant, excepting for one unexplained false negative EDTA sample. Matched against cord RhD serology, negative predictive values using BCT and EDTA tubes were 100% and 99.6%, respectively. Positive predictive values were 99.7% for both types. Overall 37.2% of subjects carried an RhD negative baby. The 'variant' cohort (n=15) included one novel RHD and eight hybrid or African pseudogene variants. Review for fetal RHD specific signals, based on one exon, showed three EDTA samples discordant to BCT, attributed to high maternal cfDNA levels arising from prolonged transport times. For the deleted haplotype cohort, fetal RHD genotyping accuracy was comparable for samples collected in EDTA and BCT tubes despite higher cfDNA levels in the EDTA tubes. Capacity to predict fetal RHD genotype for maternal carriers of hybrid or pseudogene RHD variants requires stringent control of cfDNA levels. We conclude that fetal RHD genotyping is feasible in the Australian environment to avoid unnecessary anti-D immunoglobulin prophylaxis.


Assuntos
Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Sistema do Grupo Sanguíneo Rh-Hr/genética , Coleta de Amostras Sanguíneas , Estudos de Coortes , Éxons/genética , Feminino , Doenças Fetais/sangue , Doenças Fetais/genética , Deleção de Genes , Genótipo , Haplótipos , Humanos , Gravidez , Imunoglobulina rho(D) , Deleção de Sequência
13.
Anal Chem ; 89(21): 11243-11251, 2017 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-28968098

RESUMO

Use of droplet digital PCR technology (ddPCR) is expanding rapidly in the diversity of applications and number of users around the world. Access to relatively simple and affordable commercial ddPCR technology has attracted wide interest in use of this technology as a molecular diagnostic tool. For ddPCR to effectively transition to a molecular diagnostic setting requires processes for method validation and verification and demonstration of reproducible instrument performance. In this study, we describe the development and characterization of a DNA reference material (NMI NA008 High GC reference material) comprising a challenging methylated GC-rich DNA template under a novel 96-well microplate format. A scalable process using high precision acoustic dispensing technology was validated to produce the DNA reference material with a certified reference value expressed in amount of DNA molecules per well. An interlaboratory study, conducted using blinded NA008 High GC reference material to assess reproducibility among seven independent laboratories demonstrated less than 4.5% reproducibility relative standard deviation. With the exclusion of one laboratory, laboratories had appropriate technical competency, fully functional instrumentation, and suitable reagents to perform accurate ddPCR based DNA quantification measurements at the time of the study. The study results confirmed that NA008 High GC reference material is fit for the purpose of being used for quality control of ddPCR systems, consumables, instrumentation, and workflow.


Assuntos
DNA/normas , Reação em Cadeia da Polimerase/normas , Padrões de Referência , Reprodutibilidade dos Testes
15.
J Psychosom Res ; 97: 63-69, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28606501

RESUMO

OBJECTIVE: Vasovagal syncope is governed by the autonomic nervous system and often precipitated by highly salient emotional situations. We hypothesized that a lifetime tendency towards vasovagal syncope may be precipitated by exposure to childhood trauma. METHODS: We examined data from the first wave of The Irish Longitudinal Study on Ageing (TILDA) of adults aged 50+ (n=6497) who were asked to report lifetime syncope frequency and any history of childhood sexual or physical abuse. Mediation analysis was used to assess the relative importance of pathways via which childhood trauma could plausibly increase risk of later life recurrent syncope including via depression, mid-life cardiovascular disease and frequent syncope in youth. RESULTS: 18.2% reported a lifetime syncopal event: 4.0% frequent syncope in youth and 1.5% recurrent syncope in the last year. 10.9% reported childhood sexual or physical abuse, rising to 14.2% among those reporting any lifetime syncopal event, 21.0% with frequent syncope in youth and 20.2% with recurrent syncope in later life. In fully adjusted logistic regression models the report of childhood sexual or physical abuse was independently associated with frequent syncope in youth (OR 1.85 (CI 95% 1.27-2.71); p=0.001; OR 2.14 (1.48-3.10); p<0.001 respectively). A history of frequent syncope in youth and depression partially mediated the relationship between childhood sexual and physical abuse and recurrent syncope in later life, while mid-life cardiovascular disease was less important. CONCLUSION: Childhood trauma may contribute to a lifelong vasovagal tendency. Early attention should be given to the potential precipitating and perpetuating psychosocial factors affecting recurrent syncope.


Assuntos
Maus-Tratos Infantis/psicologia , Depressão/etiologia , Síncope/etiologia , Criança , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade
16.
Transfusion ; 57(4): 1078-1088, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28338218

RESUMO

BACKGROUND: Blood group single nucleotide polymorphism genotyping probes for a limited range of polymorphisms. This study investigated whether massively parallel sequencing (also known as next-generation sequencing), with a targeted exome strategy, provides an extended blood group genotype and the extent to which massively parallel sequencing correctly genotypes in homologous gene systems, such as RH and MNS. STUDY DESIGN AND METHODS: Donor samples (n = 28) that were extensively phenotyped and genotyped using single nucleotide polymorphism typing, were analyzed using the TruSight One Sequencing Panel and MiSeq platform. Genes for 28 protein-based blood group systems, GATA1, and KLF1 were analyzed. Copy number variation analysis was used to characterize complex structural variants in the GYPC and RH systems. RESULTS: The average sequencing depth per target region was 66.2 ± 39.8. Each sample harbored on average 43 ± 9 variants, of which 10 ± 3 were used for genotyping. For the 28 samples, massively parallel sequencing variant sequences correctly matched expected sequences based on single nucleotide polymorphism genotyping data. Copy number variation analysis defined the Rh C/c alleles and complex RHD hybrids. Hybrid RHD*D-CE-D variants were correctly identified, but copy number variation analysis did not confidently distinguish between D and CE exon deletion versus rearrangement. CONCLUSION: The targeted exome sequencing strategy employed extended the range of blood group genotypes detected compared with single nucleotide polymorphism typing. This single-test format included detection of complex MNS hybrid cases and, with copy number variation analysis, defined RH hybrid genes along with the RHCE*C allele hitherto difficult to resolve by variant detection. The approach is economical compared with whole-genome sequencing and is suitable for a red blood cell reference laboratory setting.


Assuntos
Genoma Humano , Técnicas de Genotipagem/métodos , Polimorfismo de Nucleotídeo Único , Sistema do Grupo Sanguíneo Rh-Hr/genética , Feminino , Humanos , Masculino
17.
Ann Surg ; 265(4): 677-691, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27537541

RESUMO

OBJECTIVE: The aim of this study was to highlight the vulnerability of the aging brain to surgery and anesthesia, examine postoperative cognitive outcomes, and recommend possible interventions. BACKGROUND: Surgeons are facing increasingly difficult ethical and clinical decisions given the rapidly expanding aging demographic. Cognitive function is not routinely assessed either preoperatively or postoperatively. Potential short and long-term cognitive implications are rarely discussed with the patient despite evidence that postoperative cognitive impairment occurs in up to 65% of older patients. Furthermore, surgery may accelerate the trajectory of cognitive decline and dementia. METHODS: An electronic search was conducted using Pubmed/Medline. References from selected studies were cross-referenced and relevant articles retrieved. Data were summarized in a narrative format. RESULTS: There is a hidden epidemic of cognitive dysfunction in the perioperative setting. Up to 40% of patients who develop postoperative delirium (POD) never return to their preoperative cognitive baseline. POD can lead to postoperative cognitive dysfunction (POCD), a more prolonged cognitive impairment associated with longer length of hospital stay and cost, premature withdrawal from the workforce, and greater 1-year mortality. Standardized perioperative cognitive assessment is needed to enable progress. Improving outcomes will depend on a multifaceted approach, including correction of modifiable preoperative risk factors and prompt treatment of POD. Risk factors are discussed and possible interventional strategies are presented. CONCLUSION: Closer preoperative collaboration between surgeons, geriatricians, and anesthetists will enable identification of complex at-risk older patients. A paradigm shift in the approach to management of the older surgical patient is critical to improve postoperative cognitive outcomes in modern surgery.


Assuntos
Envelhecimento/psicologia , Transtornos Cognitivos/epidemiologia , Complicações Pós-Operatórias/psicologia , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Procedimentos Cirúrgicos Operatórios/psicologia , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/etiologia , Delírio/epidemiologia , Delírio/etiologia , Delírio/psicologia , Feminino , Avaliação Geriátrica , Mortalidade Hospitalar/tendências , Humanos , Incidência , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Cuidados Pré-Operatórios/métodos , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Procedimentos Cirúrgicos Operatórios/métodos , Análise de Sobrevida , Resultado do Tratamento
18.
Transfusion ; 56(9): 2322-30, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27390888

RESUMO

BACKGROUND: Blood donors whose red blood cells (RBCs) exhibit a partial RhD phenotype, lacking some D epitopes, present as D+ in routine screening. Such phenotypes can exhibit low-frequency antigens (LFAs) of clinical significance. The aim of this study was to describe the serologic and genetic profile for a blood donor with an apparent D+ phenotype carrying a variant RHD gene where D Exons 5 and 6 are replaced by RHCE Exon (5-6). STUDY DESIGN AND METHODS: Anti-D monoclonal antibodies were used to characterize the presentation of RhD epitopes on the RBCs. RHD exon scanning and DNA sequencing of short- and long-range polymerase chain reaction amplicons were used to determine the RHD structure and sequence. Extended phenotyping for LFAs RH23 (D(W) ) and Rh32 was performed. RESULTS: The donor serology profile was consistent with partial RhD epitope presentation. The donor was hemizygous for an RHD variant allele described as RHD*D-CE(5-6)-D hybrid. The RHCE gene insert is at least 3.868 kb with 5' and 3' breakpoints between IVS4 + 132-c.667 and IVS6 + 1960-IVS6 + 2099, respectively. The sequence for this hybrid was assigned GenBank Accession Number KT099190.2. The RBCs were RH23 (D(W) )+ and Rh32-. CONCLUSION: A novel RHD*D-CE(5-6)-D hybrid allele encodes a partial RhD epitope and carries the LFA RH23 (D(W) ). This and the epitope profile resemble the partial DVa phenotype. Given that RBCs from this individual lack some RhD epitopes, there is an alloimmunization risk if the donor is exposed to D+ RBCs. Conversely, transfusions of RH23 (D(W) )+ cells to RH23 (D(W) )- recipients also pose an alloimmunization risk.


Assuntos
Doadores de Sangue/estatística & dados numéricos , Sistema do Grupo Sanguíneo Rh-Hr/genética , Alelos , Epitopos/sangue , Epitopos/imunologia , Eritrócitos/metabolismo , Éxons/genética , Frequência do Gene/genética , Humanos , Fenótipo , Sistema do Grupo Sanguíneo Rh-Hr/imunologia
19.
Age Ageing ; 44(6): 1058-61, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26404613

RESUMO

BACKGROUND: Delusions of pregnancy have been reported in a wide variety of functional and organic psychiatric conditions but rarely with dementia. Most such delusions arise in women of child-bearing age. We report five cases in older women all of whom had severe constipation that probably precipitated this delusion. CASE REPORTS: Of the five women (age 74-89 years), two had dementia, two had delirium and one had both. All patients had borne healthy children. Three women reported that they were in labour, and one was concerned that the baby was not moving. All had severe constipation on examination or imaging, and three had faecal impaction. All were treated with laxatives or enemas, and only one patient required brief antipsychotic therapy. The delusions lasted from a few hours to 5 days. In general, resolution of the delusion occurred in concert with improvement in bowel function, although in one case a large bowel movement was followed by the delusion that a baby had been born. CONCLUSION: These cases suggest that misinterpretation of abdominal symptoms due to severe constipation in cognitively impaired women may trigger the delusion of being pregnant and that treatment of constipation often leads to resolution of the delusion.


Assuntos
Delusões/psicologia , Gravidez/psicologia , Idoso , Idoso de 80 Anos ou mais , Constipação Intestinal/complicações , Constipação Intestinal/psicologia , Delírio/complicações , Delusões/etiologia , Demência/complicações , Feminino , Humanos
20.
Pediatr Clin North Am ; 61(4): 797-821, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25084725

RESUMO

Children with complex chronic medical conditions are at risk for significant distress during multiple points in their life. Pediatric palliative care can meaningfully assist in providing support to the child and family throughout their complex care, managing distressing symptoms, anticipating future decision points, and helping the child and family to thrive in their local community.


Assuntos
Doença Crônica/terapia , Estado Terminal/terapia , Cuidados Paliativos/métodos , Criança , Doença Crônica/psicologia , Estado Terminal/psicologia , Humanos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA