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1.
Helicobacter ; 29(1): e13037, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37983850

RESUMO

BACKGROUND: Helicobacter pylori is a gram-negative gut bacterium most often acquired during childhood. International guidelines state that children with suspected H. pylori infection should be referred to a gastroenterologist for investigation via gastroscopy and biopsy. Eradication therapy should be prescribed for children with peptic ulcer disease or following a treatment risk/benefit discussion for those with an incidental gastroscopy finding. Guidelines state that for children a "test-and-treat" approach is not warranted, contrasting recommendations for adults. The aim of this study was to profile pediatric H. pylori infections in the South Island of New Zealand (NZ) to determine diagnostic and management strategies, and adherence to international guidelines. MATERIALS AND METHODS: Retrospective data for positive H. pylori tests between 2010 and 2021 were retrieved from hospitals and regional testing laboratories throughout the South Island (NZ) for children ≤18 years. Outcome data were retrieved from tertiary care hospital records; sociodemographic, testing methods, eradication therapy, and symptoms. RESULTS: Two-hundred and forty children were identified: 105 (44%) male, mean age 13.2 years (SD 4.3). Participants of Pasifika, Asian, and Middle Eastern/Latin American/African heritage were overrepresented compared to the NZ census data. Overall, 138 (58%) children were diagnosed via stool antigen tests, 78 (32%) serum, and only 24 (10%) adhered to international guidelines in being confirmed via gastroscopy. Only 59 (25%) had a record of eradication therapy, and 39/59 (66%) were retested to determine eradication success, with 32 (82%) negative tests and seven (18%) remaining positive. Of the 181 (75%) that had eradication status unknown, 66 (28%) had a retest result available with 48 (73%) testing negative and 18 (27%) positive, suggesting a substantial proportion had received eradication therapy without adhering to international guidelines. CONCLUSIONS: International guidelines were not adhered to for most children in the study cohort. Implications of this include cost, unnecessary venipuncture, and unjustified antibiotic exposure.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Adulto , Masculino , Humanos , Criança , Adolescente , Feminino , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/epidemiologia , Estudos Retrospectivos , Nova Zelândia/epidemiologia , Antibacterianos/uso terapêutico , Quimioterapia Combinada
2.
AIDS Behav ; 28(6): 2015-2022, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38526637

RESUMO

Current international HIV testing guidelines recommend that HIV negative persons from HIV priority groups complete repeat screening every 3-6 months; local guidelines in our jurisdiction recommend that such retesting should occur every 3 months. Such an approach allows for timely HIV diagnosis and linkage to care - and aligns with the UNAIDS 95-95-95 targets to have 95% of undiagnosed persons be aware of their HIV status. To meet these aims, new approaches to HIV testing have been developed, including our HIV self-testing initiative, GetaKit.ca, which uses an online screening algorithm to determine eligibility and has built in pathways for re-test reminders, linkage HIV prevention care, and rapid follow-up for positive test results. To understand self-testing frequency in relation to our local recommendations for resting every 3 months, we evaluated data from participants who ordered repeat HIV self-tests through GetaKit.ca. Descriptive analyses were performed on participant characteristics and chi-square tests were performed on aggregated participant risk data. During the study period, 5235 HIV self-tests were distributed to 3627 participants, of whom, 26% ordered more than once and 27% belonged to an HIV priority population. Participants who retested were more likely to have been white, male, and part of an HIV priority population; they were also more likely to have completed prior STI or HIV testing or had a prior STI diagnosis, compared to those who did not. We identified 16 new HIV diagnoses, 2 of which were among repeat testers. Our results suggest that HIV self-testing can be useful to help meet UNAIDS targets to identify undiagnosed infections; however, such efforts are less likely to be successful without adequate linkage to follow-up services, including HIV treatment and prevention care.


Assuntos
Infecções por HIV , Teste de HIV , Programas de Rastreamento , Autoteste , Humanos , Masculino , Feminino , Adulto , Infecções por HIV/diagnóstico , Pessoa de Meia-Idade , Programas de Rastreamento/métodos , Teste de HIV/estatística & dados numéricos , Teste de HIV/métodos , Adulto Jovem , Adolescente , Algoritmos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos
3.
Int J Mol Sci ; 25(11)2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38891927

RESUMO

In the majority of children with growth hormone (GH) deficiency (GHD), normal GH secretion may occur before the attainment of final height. The aim of the study was to assess the incidence of persistent and transient GHD and the effectiveness of recombined human GH (rhGH) therapy in children with isolated, idiopathic GHD with respect to the moment of therapy withdrawal and according to different diagnostic criteria of GHD. The analysis included 260 patients (173 boys, 87 girls) with isolated, idiopathic GHD who had completed rhGH therapy and who had been reassessed for GH and IGF-1 secretion. The incidence of transient GHD with respect to different pre- and post-treatment criteria was compared together with the assessment of GH therapy effectiveness. The incidence of transient GHD, even with respect to pediatric criteria, was very high. Normal GH secretion occurred before the attainment of near-final height. Application of more restricted criteria decreased the number of children diagnosed with GHD but not the incidence of transient GHD among them. Poor response to GH therapy was observed mainly in the patients with normal IGF-1 before treatment, suggesting that their diagnosis of GHD may have been a false positive. Further efforts should be made to avoid the overdiagnosis GHD and the overtreatment of patients.


Assuntos
Hormônio do Crescimento Humano , Fator de Crescimento Insulin-Like I , Humanos , Masculino , Criança , Feminino , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Fator de Crescimento Insulin-Like I/metabolismo , Adolescente , Pré-Escolar , Transtornos do Crescimento/diagnóstico , Estatura
4.
AIDS Care ; 35(9): 1346-1353, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36449635

RESUMO

Eswatini has a high HIV prevalence but has made progress towards improving HIV-status awareness, ART uptake and viral suppression. However, there is still a delay in ART initiation, which could partly be attributed to positive HIV-retesting. This study examines reasons for, and factors associated with, positive HIV-retesting among MaxART participants in Eswatini. Data from 601 participants is included in this cross-sectional study. Descriptive statistics and logistic regressions were used. Of the participants, 32.8% has ever retested after a previous positive result. Most participants who retested did this because they could not accept their results (61.9% of all retesters). Other main reasons are related to external influences, gender or the progression of their HIV infection (respectively 18.3%, 10.2%, and 6.1% of all retesters). Participants without a current partner and participants with less time since their first positive test have lower odds of retesting. To decrease retesting and reduce the delay in ART initiation resulting from it, efforts could be made on increasing the acceptance of positive HIV results. Providing more information on the process of testing and importance of early ART initiation, could be part of the solution.


Assuntos
Infecções por HIV , Humanos , Estudos Transversais , Essuatíni/epidemiologia , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Modelos Logísticos , Prevalência
5.
J Genet Couns ; 2023 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-37864663

RESUMO

In the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests-Risk And Penetrance (BRA-STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA-STRAP. In-depth, semi-structured interviews were conducted approximately 6 weeks post-result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36-84) were interviewed. Twenty-five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short-lived, followed by a process of readjustment, meaning-making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA-STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified.

6.
Medicina (Kaunas) ; 59(3)2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36984638

RESUMO

Background and Objectives: Post-stroke cognitive impairment (PSCI) has been defined as all problems in cognitive function that occur following a stroke. Studies published thus far on the prevalence of PSCI and post-stroke dementia (PSD) have shown conflicting estimates. The aim of this study was screening for cognitive impairment (CogI) in patients with an ischaemic stroke and finding the relationship between CogI (and its changes) and cardiovascular risk factors and imaging procedures-CT/MRI. Materials and Methods: We prospectively included patients with an ischaemic stroke admitted in the period from October 2019 to May 2022. In this period, 1328 patients were admitted, 305 of whom met the established inclusion criteria and underwent an examination of cognitive functions using the Montreal Cognitive Assessment (MoCA). Of these, 50 patients appeared for the control examination after 6 months. Results: In the retested group, CogI at discharge was diagnosed in 37 patients (74%). In follow-up testing after 6 months, CogI was present in 30 patients (60%). Only arterial hypertension (OR: 15; 95% CI; Pearson r: 0.001), lower education level (less than 13 years) (OR: 9.7; 95% CI 2.0-48.5; Pearson r: 0.002), and higher age were significantly associated with CogI after stroke. Conclusions: We established the prevalence of CogI and its course after 6 months in a well-defined group of patients after a mild ischaemic stroke (mean NIHSS: 2 and mean mRS: 1 at the discharge). Our results show that the prevalence of CogI after an ischaemic stroke at discharge is relatively high (74%), and it tends to be a spontaneous reduction. Cognitive functions were changed in 35% of patients. The definition of PSCI was completed in only 24% of individuals. Only an examination several months after a stroke can give us more accurate information about the true prevalence of persistent CogI after a stroke.


Assuntos
Isquemia Encefálica , Transtornos Cognitivos , Disfunção Cognitiva , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia , Transtornos Cognitivos/diagnóstico , Isquemia Encefálica/complicações , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , AVC Isquêmico/complicações
7.
J Pediatr ; 245: 149-157.e1, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35120982

RESUMO

OBJECTIVE: To assess outcomes from the US postarrival evaluation of newly arrived immigrant and refugee children aged 2-14 years who were diagnosed with latent tuberculosis infection (LTBI) during a required overseas medical examination. STUDY DESIGN: We compared overseas and US interferon-γ release assay (IGRA)/tuberculin skin test (TST) results and LTBI diagnosis; assessed postarrival LTBI treatment initiation and completion; and evaluated the impact of switching from TST to IGRA to detect Mycobacterium tuberculosis infection overseas. RESULTS: In total, 73 014 children were diagnosed with LTBI overseas and arrived in the US during 2007-2019. In the US, 45 939 (62.9%) completed, and 1985 (2.7%) initiated but did not complete a postarrival evaluation. Among these 47 924 children, 30 360 (63.4%) were retested for M tuberculosis infection. For 17 996 children with a positive overseas TST, 73.8% were negative when retested by IGRA. For 1051 children with a positive overseas IGRA, 58.0% were negative when retested by IGRA. Overall, among children who completed a postarrival evaluation, 18 544 (40.4%) were evaluated as having no evidence of TB infection, and 25 919 (56.4%) had their overseas LTBI diagnosis confirmed. Among the latter, 17 229 (66.5%) initiated and 9185 (35.4%) completed LTBI treatment. CONCLUSIONS: Requiring IGRA testing overseas could more effectively identify children who will benefit from LTBI treatment. However, IGRA reversions may occur, highlighting the need for individualized assessment for risk of infection, progression, and poor outcome when making diagnostic and treatment decisions. Strategies are needed to increase the proportions receiving a postarrival evaluation and completing LTBI treatment.


Assuntos
Emigrantes e Imigrantes , Tuberculose Latente , Refugiados , Tuberculose , Criança , Humanos , Testes de Liberação de Interferon-gama/métodos , Tuberculose Latente/diagnóstico , Teste Tuberculínico/métodos
8.
AIDS Behav ; 26(5): 1366-1376, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34705150

RESUMO

Some people with HIV (PWH) test positive multiple times without initiating antiretroviral therapy (ART). We surveyed 496 ART-eligible PWH following routine HIV testing at three clinics in Soweto and Gugulethu, South Africa in 2014-2015. Among repeat positive testers (RPTs) in this cohort, we compared rates of treatment initiation by prior treatment eligibility and assessed psychosocial predictors of treatment initiation in logistic regression models. RPTs represented 33.8% of PWH in this cohort. Less than half of those who reported eligibility for ART on prior testing started treatment upon retesting, in contrast to two thirds of RPTs who were previously ineligible for treatment who started treatment once they learned of their eligibility. Those who reported coping through substance use were more likely to decline treatment versus those not using substances. PWH who test repeatedly represent a vulnerable population at risk for ART non-initiation who may benefit from interventions addressing individualized coping strategies.


Assuntos
Fármacos Anti-HIV , Infecções por HIV , Soropositividade para HIV , Fármacos Anti-HIV/uso terapêutico , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Soropositividade para HIV/tratamento farmacológico , Teste de HIV , Humanos , África do Sul/epidemiologia
9.
J Endocrinol Invest ; 45(9): 1709-1717, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35567736

RESUMO

PURPOSE: We aimed to evaluate the near-final height (nFHt) in a large cohort of pediatricpatients with growth hormone deficiency (GHD) and to elaborate a new predictive method of nFHt. METHODS: We recruited GHD patients diagnosed between 1987 and 2014 and followed-up until nFHt. To predict the values of nFHt, each predictor was run in a univariable spline. RESULTS: We enrolled 1051 patients. Pre-treatment height was -2.43 SDS, lower than parental height (THt) (-1.09 SDS, p < 0.001). The dose of recombinant human GH (rhGH) was 0.21mg/kg/week at start of treatment. nFHt was -1.08 SDS (height gain 1.27 SDS), higher than pre-treatment height (p < 0.001) and comparable to THt. 1.6% of the patients were shorter than -2 SDS from THt. The rhGH dose at nFHt was 0.19 mg/kg/week, lower than at the start (p < 0.001). The polynomial regression showed that nFHt was affected by gender, THt, age at puberty, height at puberty, age at the end of treatment (F = 325.37, p < 0.0001, R2 87.2%). CONCLUSION: This large national study shows that GHD children can reach their THt. The rhGH/kg/day dose significantly decreased from the start to the end of the treatment. Our model suggests the importance of a timely diagnosis, possibly before puberty, the beneficial effect of long-term treatment with rhGH, and the key-role of THt. Our prediction model has a very acceptable error compared to the majority of other published studies.


Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Estatura , Criança , Estudos de Coortes , Nanismo Hipofisário/diagnóstico , Nanismo Hipofisário/tratamento farmacológico , Nanismo Hipofisário/epidemiologia , Hormônio do Crescimento/uso terapêutico , Humanos , Puberdade
10.
J Clin Lab Anal ; 36(7): e24495, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35657140

RESUMO

BACKGROUND: After encountering COVID-19 patients who test positive again after discharge, our study analyzed the pathogenesis to further assess the risk and possibility of virus reactivation. METHODS: A separate microarray was acquired from the Gene Expression Omnibus (GEO), and its samples were divided into two groups: a "convalescent-RTP" group consisting of convalescent and "retesting positive" (RTP) patients (group CR) and a "healthy-RTP" group consisting of healthy control and RTP patients (group HR). The enrichment analysis was performed with R software, obtaining the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Subsequently, the protein-protein interaction (PPI) networks of each group were established, and the hub genes were discovered using the cytoHubba plugin. RESULTS: In this study, 6622 differentially expressed genes were identified in the group CR, among which RAB11B-AS1, DISP1, MICAL3, PSMG1, and DOCK4 were up-regulated genes, and ANAPC1, IGLV1-40, SORT1, PLPPR2, and ATP1A1-AS1 were down-regulated. 7335 genes were screened in the group HR, including the top 5 up-regulated genes ALKBH6, AMBRA1, MIR1249, TRAV18, and LRRC69, and the top 5 down-regulated genes FAM241B, AC018529.3, AL031963.3, AC006946.1, and FAM149B1. The GO and KEGG analysis of the two groups revealed a significant enrichment in immune response and apoptosis. In the PPI network constructed, group CR and group HR identified 10 genes, respectively, and TP53BP1, SNRPD1, and SNRPD2 were selected as hub genes. CONCLUSIONS: Using the messenger ribonucleic acid (mRNA) expression data from GSE166253, we found TP53BP1, SNRPD1, and SNRPD2 as hub genes in RTP patients, which is vital to the management and prognostic prediction of RTP patients.


Assuntos
COVID-19 , Biologia Computacional , COVID-19/diagnóstico , COVID-19/genética , Teste para COVID-19 , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Redes Reguladoras de Genes/genética , Humanos , Alta do Paciente , Recidiva
11.
J Infect Dis ; 223(2): 234-237, 2021 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-32561928

RESUMO

BACKGROUND: During HIV retesting in antenatal and preexposure prophylaxis (PrEP) care, discrepant results occur, but guidelines are lacking. METHODS: In a Kenyan trial implementing antenatal PrEP, if 1 test is reactive, a second is performed; if discrepant, both are repeated; if persistently discrepant, DNA polymerase chain reaction (PCR) is performed. RESULTS: Among 4451 women, 23 265 HIV retesting sessions were performed; 14 (0.06%, 95% confidence interval, 0.03%-0.10%) had discrepant results among 10 individuals; in all 10 initial cases, PCR was negative. CONCLUSIONS: Discrepant rapid tests are an expected, rare, and important challenge for antenatal care HIV retesting, with and without PrEP. CLINICAL TRIALS REGISTRATION: NCT03070600.


Assuntos
Infecções por HIV/diagnóstico , Infecções por HIV/virologia , HIV , Profilaxia Pré-Exposição , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Adulto , Fármacos Anti-HIV/uso terapêutico , Terapia Antirretroviral de Alta Atividade , Tomada de Decisão Clínica , Gerenciamento Clínico , Feminino , HIV/genética , Infecções por HIV/tratamento farmacológico , Infecções por HIV/prevenção & controle , Humanos , Quênia , Programas de Rastreamento , Reação em Cadeia da Polimerase , Profilaxia Pré-Exposição/métodos , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/prevenção & controle , Cuidado Pré-Natal
12.
AIDS Care ; 33(5): 675-681, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33172300

RESUMO

There are limited data characterizing HIV retesting among high-risk adults in sub-Saharan Africa. From October-December 2018, we distributed recruitment cards offering health evaluations with HIV testing at venues frequented by individuals at-risk of HIV infection in Southwest Uganda. Those who attended were asked about their HIV testing history and risk factors: having >1 sexual partner, an HIV+ partner, STIs, and/or transactional sex. We defined "highest risk" as ≥3 risk factors and "frequent testing" as ≥3 tests within the past year. Of 1,777 cards distributed, 1,482 (83%) adults came to clinic: median age was 26(IQR: 22-31), 598 (40%) were men, and 334 (23%) were HIV+. Of 1,148 HIV-negative adults, 338 (29%) were highest risk and 205 (18%) were frequent testers. Frequent testing was similar in women (19%) and men (16%, p = 0.22). Among women, those at highest risk were more likely to report any testing (90% vs. 81%, p = 0.01) and frequent testing (25% vs. 18%, p = 0.06) than those at lower risk. Among men, any testing and frequent testing were similar between risk levels. Among adults recruited from high-risk venues in peri-urban Uganda, HIV risk behaviors were commonly reported, yet frequent retesting remained low. Interventions to promote retesting are needed, particularly among men.


Assuntos
Infecções por HIV , Infecções Sexualmente Transmissíveis , Adulto , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Humanos , Masculino , Assunção de Riscos , Comportamento Sexual , Parceiros Sexuais , Uganda/epidemiologia
13.
Clin Chem Lab Med ; 59(11): 1790-1799, 2021 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-34271597

RESUMO

OBJECTIVES: Vitamin D testing by Primary Care doctors is increasing, placing greater workloads on healthcare systems. There is little data though on vitamin D retesting in Ireland. This study aims to investigate the factors associated with vitamin D retesting by Irish General Practitioners (GPs) and examine the resulting costs. METHODS: This is a retrospective analysis over 5 years (2014-2018) of GP requested 25-hydroxyvitamin D (25(OH)D) results in 36,458 patients at a major city hospital in Dublin, Ireland. Those with one test were compared with individuals who were retested and samples categorised to determine changes in status between tests. RESULTS: Nearly one in four patients (n=8,305) were retested. Positive predictors of retesting were female (p<0.001), age (60-69 years, p<0.001), location (Co. Kildare, p<0.001) and initial deficiency (<30 nmol/L, p<0.001) or insufficiency (30-49.9 nmol/L, p<0.001). Vitamin D status improved on retesting, with deficiency halving on first retest (9 vs. 18%, p<0.001) and dropping to 6% on further retests. About 12.2% of retests were done within 3 months and 29% had ≥2 retests within 1 year. 57% of retests were in those initially vitamin D replete (>50 nmol/L). The annual cost of inappropriate testing was €61,976. CONCLUSIONS: One in four patients were retested and this varied by age, gender and patient location. Over 10% of retests were inappropriately early (<3 months), a third too frequent and over half were in replete individuals incurring significant costs. Clear guidance for GPs on minimum retesting intervals is needed, as well as laboratory ordering systems to limit requests using pre-defined criteria.


Assuntos
Clínicos Gerais , Deficiência de Vitamina D , Idoso , Custos e Análise de Custo , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Vitamina D , Vitaminas
14.
J Med Genet ; 57(6): 380-384, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31784482

RESUMO

BACKGROUND: The value of retesting women who previously tested negative for a pathogenic variant (mutation) in BRCA1 and BRCA2 using an expanded panel of breast and ovarian cancer genes is unclear. METHODS: We studied 110 BRCA1/2-negative women who were retested using a panel of 20 breast and/or ovarian cancer susceptibility genes at the Advanced Molecular Diagnostics Laboratory (AMDL) at Mount Sinai Hospital in Toronto between March 2017 and March 2019. All patients had previously tested negative for BRCA pathogenic variants at the AMDL between January 2012 and March 2018 and were subsequently referred for retesting by their physician. RESULTS: Overall, six pathogenic variants in genes other than BRCA1 and BRCA2 were found (prevalence 5.5%). There were two pathogenic variants found in RAD51C, and one found in each of BRIP1, PALB2, PMS2 and PTEN. The prevalence of pathogenic variants was 6.5% for women affected with cancer (6 of 93), including 4.9% for women with breast cancer (4 of 82) and 22.2% for women with ovarian cancer (2 of 9). None of the 17 unaffected women had a clinically significant or pathogenic variant. There were 44 women (40%) for whom the result of the panel test was inconclusive due to the detection of a variant of uncertain significance. CONCLUSIONS: Our findings indicate that the retesting of BRCA1/2-negative individuals with an expanded panel of 20 breast and ovarian cancer genes can produce clinically relevant results, with a yield of 5.5% for pathogenic variants in genes other than BRCA1 and BRCA2.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Proteínas de Ligação a DNA/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Proteínas de Grupos de Complementação da Anemia de Fanconi/genética , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Síndrome Hereditária de Câncer de Mama e Ovário/patologia , Humanos , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , PTEN Fosfo-Hidrolase/genética , RNA Helicases/genética
15.
Malar J ; 19(1): 409, 2020 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-33183296

RESUMO

BACKGROUND: According to China's Malaria Eradication Action Plan, malaria cases diagnosed and reported by health authorities at the county level must be further re-confirmed by provincial laboratories. The Yunnan Province Malaria Diagnostic Reference Laboratory (YPMDRL) began the synchronous implementation of microscopic examinations and nested polymerase chain reaction (nested-PCR) testing to re-test the malaria cases initially diagnosed by county-level laboratories and to evaluate the consistency of Plasmodium species identified between by YPMDRL and by the county-level laboratories from 2013 to 2018 in Yunnan Province. METHODS: Data on malaria initial diagnosis completed by county-level laboratories in Yunnan Province were collected weekly from the "China Disease Prevention and Control Information System" from 2013 to 2018. The YPMDRL performed Plasmodium microscopic examination and 18S rRNA gene nested-PCR testing on every malaria case managed by the China Disease Prevention and Control Information System. The re-testing detection results were fed back to the initial diagnosis and reporting unit for revision of malaria case types. RESULTS: A total of 2,869 malaria cases were diagnosed and reported by county-level laboratories in Yunnan Province from 2013 to 2018. The re-testing rate was 95.6% (2,742/2,869), and the re-testing rate increased from 2013 to 2018. Among the re-tested 2,742 cases, 96.7% (2651/2742), 2.2% (59/2742), and 1.1% (32/2742) were doubly examined by microscopy and by nested-PCR, only by microscopy, and only by nested-PCR, respectively. The total Plasmodium species accuracy rate at county-level laboratories was 92.6% (2,543/2,742) reference to the diagnosis by YPMDRL. Among the inconsistent 199 cases, they were identified as including 103 negative cases, 45 falciparum malaria cases, 30 vivax malaria cases, 11 ovale malaria cases, and 10 malariae malaria cases by YPMDRL. From 2013 to 2018, the revised and registered malaria cases by the China Disease Prevention and Control Information System in Yunnan Province was 2,747 cases, including 2,305 vivax malaria cases, 421 falciparum malaria cases, 11 ovale malaria cases, and 10 malariae malaria cases. CONCLUSIONS: The double re-testing strategy by microscopy and by gene testing increases the accuracy of diagnoses malaria in Yunnan Province, and gene testing can reliably differentiate Plasmodium species. The re-testing results provided by YPMDRL are the authoritative basis for revising malaria kind in Yunnan Province.


Assuntos
Técnicas de Laboratório Clínico/estatística & dados numéricos , Malária/diagnóstico , China , Confiabilidade dos Dados , Humanos , Malária/classificação , Reação em Cadeia da Polimerase , RNA de Protozoário/análise , RNA Ribossômico 18S/análise
16.
Stat Med ; 39(6): 687-697, 2020 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-31758594

RESUMO

Group testing has been widely used as a cost-effective strategy to screen for and estimate the prevalence of a rare disease. While it is well-recognized that retesting is necessary for identifying infected subjects, it is not required for estimating the prevalence. For a test without misclassification, gains in statistical efficiency are expected from incorporating retesting results in the estimation of the prevalence. However, when the test is subject to misclassification, it is not clear how much gain should be expected. There are a number of theoretical challenges in addressing this issue, including (1) enumerating the potential test results from retesting individual subjects in a group, (2) the dependence among these test results and the test result from testing at the group level, and (3) differential misclassification due to pooling of biospecimens. Overcoming some of these challenges, we show that retesting subjects in either positive or negative groups can substantially improve the efficiency of the estimation and that retesting positive groups yields higher efficiency than retesting a same number or proportion of negative groups.


Assuntos
Prevalência , Análise Custo-Benefício , Humanos
17.
AIDS Behav ; 24(5): 1505-1516, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31605294

RESUMO

Systematic face-to-face pre-HIV test counseling is costly and may discourage clients to present for regular testing. In a randomized, controlled, non-inferiority trial conducted in four facilities providing free-of-charge anonymous HIV testing in Thailand, participants received either: standard counseling according to national guidelines (reference); computer-assisted counseling: interactive counseling on a tablet computer followed by an invitation to ask questions to the counselor; or on-demand counseling: invitation to ask questions to the counselor. Primary endpoint was a HIV retest within 7 months after enrolment visit. Following the planned interim analysis, on-demand counseling was discontinued for futility. In the final analysis in 1036 HIV-uninfected at-risk participants, computer-assisted counseling was non-inferior to standard counseling and had similar acceptability and improvements in HIV knowledge and sexual risk behaviors; however, it significantly reduced the time spent by counselors on counseling. Implementation of pre-HIV test computer-assisted counseling may ease the burden on staff involved in HIV testing.


Assuntos
Infecções por HIV , Aconselhamento , Infecções por HIV/diagnóstico , Infecções por HIV/prevenção & controle , Humanos , Assunção de Riscos , Comportamento Sexual , Tailândia
18.
AIDS Care ; 32(sup2): 206-213, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32164420

RESUMO

HIV testing among female sex workers (FSWs) is an established global health priority. HIV self-testing (HIVST) seems to have the potential to address issues of confidentiality, privacy and convenience among this key population. HIVST, however, may result in unintended consequences as its implementation unfolds in a complex sex work context characterised by unequal power relations, stigma and high HIV prevalence. We aimed to explore the experiences of FSWs with HIVST in the context of retesting and antiretroviral usage in Blantyre, Malawi. We used an ethnographic approach to understand meanings and views around HIVST and retesting. We found high levels of retesting, especially among those on antiretroviral, two of which received "false-negative" results. We identified three broad narratives: (1) retesting in response to experiences in the sex work context, (2) retesting driven by the desire to self-monitor HIV-negative status, and (3) retesting in the hope of sero-reversion. The FSWs' experiences indicate that the implementation of HIVST in this context is complex with potential for unintended harms such as coercive testing. HIVST programmes must include clear and appropriate messaging to reduce retesting while on ART and implement strategies to address FSW concerns and anxieties about the accuracy of their HIV-positive test results.


Assuntos
Antirretrovirais/uso terapêutico , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Programas de Rastreamento/métodos , Profissionais do Sexo/estatística & dados numéricos , Adulto , Terapia Antirretroviral de Alta Atividade , Feminino , Infecções por HIV/psicologia , Humanos , Entrevistas como Assunto , Malaui/epidemiologia , Pesquisa Qualitativa , Testes Sorológicos/métodos , Trabalho Sexual , Estigma Social
19.
Clin Chem Lab Med ; 59(1): 39-50, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32892171

RESUMO

Background: Minimum retesting intervals (MRI) are a popular demand management solution for the identification and reduction of over-utilized tests. In 2011 Association of Clinical Biochemistry and Laboratory Medicines (ACB) published evidence-based recommendations for the use of MRI. Aim: The aim of the paper was to review the use of MRI over the period since the introduction of these recommendations in 2011 to 2020 and compare it to previous published data between 2000-2010. Methods: A multi-source literature search was performed to identify studies that reported the use of a MRI in the management or identification of inappropriate testing between the years prior to (2000-2010) and after implementation (2011-2020) of these recommendations. Results: 31 studies were identified which met the acceptance criteria (2000-2010 n=4, 2011-2020 n=27). Between 2000 and 2010 4.6% of tests (203,104/4,425,311) were identified as failing a defined MRI which rose to 11.8% of tests (2,691,591/22,777,288) in the 2011-2020 period. For those studies between 2011 and 2020 reporting predicted savings (n=20), 14.3% of tests (1,079,972/750,580) were cancelled, representing a total saving of 2.9 M Euros or 2.77 Euro/test. The most popular rejected test was Haemoglobin A1c which accounted for nearly a quarter of the total number of rejected tests. 13 out 27 studies used the ACB recommendations. Conclusions: MRI are now an established, safe and sustainable demand management tool for the identification and management of inappropriate testing. Evidence based consensus recommendations have supported the adoption of this demand management tool into practice across multiple healthcare settings globally and harmonizing laboratory practice.


Assuntos
Técnicas de Laboratório Clínico/normas , Uso Excessivo dos Serviços de Saúde/prevenção & controle , Fatores de Tempo
20.
BMC Public Health ; 20(1): 1239, 2020 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-32795362

RESUMO

BACKGROUND: Repeat Chlamydia trachomatis (CT) infections are common. To better understand the characteristics of patients frequently infected with CT at our sexually transmitted infection (STI) care services, we assessed the differences between patients repeatedly infected with CT and those who repeatedly tested negative. METHODS: In this cross-sectional analysis of cohort data, we assessed individuals tested for CT at different STI care providers between 2011 and mid-2018 in Southwest Limburg, the Netherlands (n = 17,616). Patients with ≥2 repeat CT infections in the study period were categorized as "patients with repeat CT infections." Multivariable logistic regression analyses were performed for the binary outcome measure: patients with repeat CT infections versus patients who repeatedly tested negative (reference group). Additional analyses were performed for only the STI clinic population. RESULTS: Patients aged < 25 years (OR: 1.83; 95%CI:1.38-2.43), co-infected with HIV (OR: 2.07; 95%CI: 1.02-4.22) or co-infected with Neisseria gonorrhoeae (NG) (OR: 5.04; 95%CI: 3.33-7.63) had more repeat CT infections. In additional analyses among exclusively STI clinic visitors, patients with urogenital symptoms (OR: 2.17; 95%CI: 1.41-3.35), and patients notified for STIs (OR: 4.55; 95%CI: 3.17-6.54) had more frequent repeat CT infections. CONCLUSIONS: Patients aged < 25 years and patients coinfected with HIV or NG had more frequent repeat CT infections, accounting for ~ 20% of the diagnosed CT infections. These patients are likely at the highest risk for transmitting and acquiring CT. Therefore, testing and retesting this group remains important to enhance CT control.


Assuntos
Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/isolamento & purificação , Programas de Rastreamento/estatística & dados numéricos , Adolescente , Adulto , Estudos de Coortes , Coinfecção , Estudos Transversais , Feminino , Gonorreia/epidemiologia , Infecções por HIV/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Neisseria gonorrhoeae , Países Baixos/epidemiologia , Fatores de Risco , Adulto Jovem
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