RESUMO
Leprosy is an infectious neglected tropical disease, which can cause irreversible disabilities if not diagnosed in time. Colombia continues to show high rates of leprosy-related disability, mainly due to a delay in diagnosis. Limited knowledge is available that explains this delay, therefore our study aimed to explore the perceptions and experiences of leprosy health professionals with the delay in leprosy diagnosis in the Cesar and Valle del Cauca departments, Colombia. Nine semi-structured expert interviews with leprosy health professionals were conducted in May-June 2023 in Colombia. Thematic analysis was performed to analyse the interview results. Our analysis highlighted that the main reasons for delay at the health system-level included accessibility issues to obtain a diagnosis, lack of expertise by health staff, and barriers related to the organisation of the care pathway. Individual - and community-level factors included a lack of leprosy awareness among the general population and leprosy-related stigma. Diagnostic delay consists of a fluid interplay of various factors. Structural changes within the health system, such as organising integral leprosy care centres and highlighting leprosy in the medical curriculum, as well as awareness-related interventions among the general population, might help reducing diagnostic delays.
Assuntos
Diagnóstico Tardio , Pessoal de Saúde , Entrevistas como Assunto , Hanseníase , Pesquisa Qualitativa , Humanos , Hanseníase/diagnóstico , Colômbia , Masculino , Feminino , Pessoal de Saúde/psicologia , Adulto , Pessoa de Meia-Idade , Conhecimentos, Atitudes e Prática em Saúde , Acessibilidade aos Serviços de SaúdeRESUMO
INTRODUCTION: Almost one third of people affected by leprosy in Colombia suffer from disability, which often results from delayed diagnosis and treatment. We aimed to explore the experience of people affected by leprosy during the process of diagnosis and treatment and if and how this experience was influenced by peers. METHODS: A qualitative study using body map stories was conducted from October 2019 to February 2020 in Colombia. Adult people affected by leprosy were recruited through patient associations in different cities. We conducted three sessions with an average duration of 2-3 h per participant, during which the participants created a painted map of their body and chose symbols to represent their experience, while being engaged in an informal interview. The sessions were audio recorded, transcribed verbatim and analyzed thematically by an interdisciplinary team, consisting of physicians, social workers and a person affected by leprosy. RESULTS: The 17 study participants (11 female) were aged 20 to 70 years. Leprosy-related manifestations ranged from no to advanced disability. Some participants were active members of associations for people affected by leprosy. Three main themes were identified during analysis: (1) A long pathway to diagnosis, (2) Therapy as a double-edged sword and (3) The influence of other people affected by leprosy. The participants described an often years-long process until being diagnosed, which was marked by insecurities, repeated misdiagnosis, and worsening mental and physical health. Delayed diagnosis was related to late health care seeking, but also to inadequate health communication, lack of leprosy-related knowledge and negligence among health care workers. A high desire to cure motivated the participants to take their medication rigorously, despite the high treatment burden. Support from peers, either within the own social environment or provided from associations, contributed to a faster diagnosis and increased therapy adherence. Peers helped to recognize the symptoms, urged patients to seek care, recommended physicians with leprosy-related knowledge and provided a realistic example of both disease severity and curability. CONCLUSION: People affected by leprosy experience a significant burden during the process of diagnosis and treatment. Involving well-trained peers could foster early diagnosis, treatment compliance and prevention of disability.
Assuntos
Hanseníase , Pesquisa Qualitativa , Humanos , Hanseníase/psicologia , Hanseníase/terapia , Hanseníase/diagnóstico , Colômbia , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Diagnóstico Tardio/psicologia , Grupo Associado , Pessoas com Deficiência/psicologiaRESUMO
OBJECTIVES: (I) To identify and measure the clinical consequences of a delayed diagnosis in patients with primary obstetric antiphospholipid syndrome (POAPS), in terms of time and events associated to antiphospholipid syndrome (APS), and (II) to evaluate the impact of their treatment status on perinatal outcomes, before and after diagnosis. METHODS: This retrospective multicentre study included 99 POAPS women who were separated in two groups of timelines based on their diagnostic status: group 1: women who met the clinical criteria for POAPS; group 2: included the same patients from group 1 since they meet the laboratory criteria for APS. In group 1, we assessed the following variables: obstetric events, thrombotic events and time (years) to diagnosis of APS. We also compared perinatal outcomes between patients in group 1 vs. group 2. Women in group 2 were treated with standard of care for POAPS. Simple and multivariable logistic regression analyses were performed. RESULTS: Regarding the impact of the delay on diagnosis, a total of 87 APS-related events were recorded: 46 miscarriages, 32 foetal losses and 9 premature deliveries before the 34th week due to preeclampsia, and one thrombosis. The estimated rate of preventable events was 20.58 per year/100 patients. The mean diagnostic delay time was 4.27 years. When we compared both groups during pregnancy, we found that patients in group 1 (no treatment) had a higher association with pregnancy losses [OR = 6.71 (95% CI: 3.59-12.55), p < 0.0001]. CONCLUSION: Our findings emphasize the negative impact of POAPS underdiagnosis on patient health and the critical importance of a timely intervention to improve pregnancy outcomes. Key Points â¢Our study shows the relevance of underdiagnosis on primary obstetric antiphospholipid syndrome (POAPS). â¢These patients presented a high risk of APS-related events with each passing year. â¢Shorter diagnostic delay time was observed in the reference centres.
Assuntos
Aborto Espontâneo , Síndrome Antifosfolipídica , Trombose , Gravidez , Humanos , Feminino , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/terapia , Síndrome Antifosfolipídica/complicações , Anticorpos Antifosfolipídeos , Diagnóstico Tardio , Resultado da Gravidez , Trombose/complicaçõesRESUMO
BACKGROUND: Disparities in the timely diagnosis and care of cancer patients, particularly concerning geographical, racial/ethnic, and economic factors, remain a global health challenge. This study explores the multifaceted interplay between socioeconomic status, health literacy, and specific patient perceptions regarding care access and treatment options that impact cancer care in Uruguay. METHODS: Using the Cancer Health Literacy Test, Spanish Version (CHLT-30-DKspa), and a highly comprehensive questionnaire, we dissected the factors influencing the pathway to diagnosis and route of cancer care. This was done to identify delays by analyzing diverse socioeconomic and sex subgroups across multiple healthcare settings. RESULTS: Patients with lower income took longer to get an appointment after showing symptoms (p = 0.02) and longer to get a diagnosis after having an appointment (p = 0.037). Race/ethnicity also had a significant impact on the length of time from symptoms to first appointment (p =0.019), whereas employment status had a significant impact on patients being susceptible to diagnostic delays beyond the advocated 14-day window (p = 0.02). Higher educational levels were positively associated with increased cancer health literacy scores (p = 0.043), revealing the potential to mitigate delays through health literacy-boosting initiatives. Women had significantly higher self-reported symptom duration before seeking an intervention (p = 0.022). We also found many other significant factors effecting treatment delays and cancer health literacy. CONCLUSIONS: While affirming the global pertinence of socioeconomic- and literacy-focused interventions in enhancing cancer care, the findings underscore a complex, gendered, and perceptually influenced healthcare navigation journey. The results highlight the urgent necessity for strategically crafted, globally relevant interventions that transcend equitable access to integrate literacy, gender sensitivity, and patient-perception alignments in pursuit of optimized global cancer care outcomes.
Assuntos
Letramento em Saúde , Disparidades em Assistência à Saúde , Neoplasias , Fatores Socioeconômicos , Humanos , Uruguai , Feminino , Masculino , Neoplasias/terapia , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Pessoa de Meia-Idade , Adulto , Inquéritos e Questionários , Acessibilidade aos Serviços de Saúde , Idoso , Disparidades Socioeconômicas em SaúdeRESUMO
To examine delay from developmental screening to autism diagnosis, we used real-world health care data from a national research network to estimate the time between these events. We found an average delay of longer than 2 years from first screening to diagnosis, with no significant differences observed by sex, race, or ethnicity.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Transtorno do Espectro Autista/diagnóstico , Etnicidade , PrevalênciaRESUMO
ABSTRACT Background: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group. Objective This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic. Methods Retrospective study including all pediatric IBD patients diagnosed during 2014, 2019 and 2020 in a tertiary hospital. Diagnostic delay, time to first medical visit, time to pediatric gastroenterologist (PG) visit and time to diagnosis were calculated and compared within a gap of five years (2019 and 2014) and with the year of onset of the pandemic (2020 and 2019). Results A total of 93 participants were included (2014: 32, 2019: 30, 2020: 31). No significant differences were observed in diagnostic delay, time to first medical visit in Crohn's disease (CD), time to PG visit and time to diagnosis when comparing 2019-2014 and 2020-2019. Time to first visit in ulcerative colitis (UC) and Undetermined-IBD increased in 2019 (P=0.03), with new decrease in 2020 (P=0.04). Diagnostic delay was longer in DC compared to UC plus Undetermined-IBD. Conclusion Diagnostic delay is still an important matter in pediatric IBD, with no significant change over the last years. The time to the first PG visit and the time for diagnosis seem to have the greatest impact on diagnostic delay. Thus, strategies to enhance recognition of IBD symptoms among first-line physicians and to improve communication, facilitating referral, are of utmost importance. Despite the restraints in the health care system caused by the pandemic, time to diagnosis in pediatric IBD was not impaired during 2020 in our center.
RESUMO Contexto Apesar da prevalência crescente da doença inflamatória intestinal (DII) em idade pediátrica, o seu diagnóstico pode ser desafiante. Um atraso no diagnóstico é particularmente deletério nesta faixa etária. Objetivo Este estudo investiga a evolução do atraso diagnóstico na DII pediátrica e o impacto da pandemia COVID-19 no mesmo. Métodos Estudo retrospetivo que incluiu todos os doentes em idade pediátrica diagnosticados com DII durante 2014, 2019 e 2020 num hospital terciário. O atraso diagnóstico, o tempo para a primeira visita médica, o tempo para a primeira visita ao gastroenterologista pediátrico (GP) e o tempo para o diagnóstico foram calculados e comparados num intervalo de cinco anos (2019 e 2014) e com o ano marcado pelo surgimento da pandemia COVID-19 (2020 e 2019). Resultados Foram incluídos 93 participantes (2014: 32, 2019: 30, 2020: 31). Não se observou diferença significativa no atraso diagnóstico, no tempo para a primeira visita médica na doença de Crohn (DC), no tempo para a primeira visita ao GP e no tempo para o diagnóstico após comparação entre 2019-2014 e 2020-2019. Na colite ulcerosa e colite indeterminada, o tempo para a primeira visita médica aumentou em 2019 (P=0,03), com nova diminuição em 2020 (P=0,04). O atraso diagnóstico foi superior na DC comparativamente com a colite ulcerosa e colite indeterminada. Conclusão O atraso diagnóstico na DII pediátrica continua a ser um tema importante, que não sofreu alteração significativa ao longo dos últimos anos. O tempo para a primeira visita ao GP e o tempo para o diagnóstico parecem ter maior impacto no atraso diagnóstico, pelo que são necessárias estratégias para aumentar o reconhecimento dos sintomas da DII entre os médicos de primeira linha, bem como melhorar a comunicação e a referenciação. Apesar das restrições causadas pela pandemia no sistema de saúde, o tempo para o diagnóstico na DII pediátrica não foi comprometido no nosso centro em 2020.
RESUMO
BACKGROUND: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a rare disease with diagnosis offered by the Unified Health System in Brazil. Our aim was to investigate the diagnostic delay in an interval of 23 years in a public university hospital, and some potentially determining factors. METHODS: A retrospective review of the medical records of subjects identified at our institution between 1999 and 2017 was carried out, including residents of Rio Grande do Sul. The diagnostic delay was equivalent to the difference between age at onset of symptoms and age at molecular diagnosis. Calendar years, educational level, sex, distance between the household and the clinics, age and being the index case were studied as modifying factors. RESULTS: SCA3/MJD had a median diagnostic delay of 5 years. Index cases had delays of 6 versus 4 years (p<0.001) for subsequent family members. Delay correlated with age (rho=0.346, p<0.001), but not with age at disease onset (rho=0.005, p=0.91). No change was observed with the level of education of individuals or with the distance between household and hospital from 1999 to 2017. DISCUSSION: The diagnostic delay of SCA3/MJD is high in our region, where its occurrence has been reported for years. Failure to change the delay over the years suggests ineffective dissemination to the population, but a smaller lag among younger people can portray the effect of digital inclusion.
Assuntos
Doença de Machado-Joseph , Ataxias Espinocerebelares , Degenerações Espinocerebelares , Humanos , Diagnóstico Tardio , BrasilRESUMO
INTRODUCCIÓN: La lepra, una infección crónica, es una de las mayores causas de discapacidad prevenible. El inicio temprano del tratamiento previene el desarrollo de discapacidad. OBJETIVO: Identificar los factores pronóstico de discapacidad en individuos con lepra multibacilar y paucibacilar que culminaron el tratamiento farmacológico entre el 2011 y 2017 en Paraguay. PACIENTES Y MÉTODOS: Se realizó un estudio de casos y controles, con 34 pacientes, 9 casos, 25 controles. Los casos fueron pacientes con discapacidad Grado 1 que presentaban falta de sensibilidad en miembros inferiores o superiores, y los de Grado 2, lagoftalmos, rigidez, ulceraciones, garra pasiva, garra activa. Los controles no presentaron discapacidad. RESULTADOS: La edad media de los pacientes fue 53 ± 15,2 años, el 55,9% fue de sexo masculino y 58,9% tenía educación primaria o no tenía educación formal. El 58,8% de los pacientes presentó lepra multibacilar; y el 64,7% fue diagnosticado tras consultar con dos o más médicos. Retraso en el diagnóstico mayor a un año fue significativamente (p = 0,047) mayor en los casos que en los controles (77,8 vs 12%; OR: 7,44; IC95%: 1,02-67,86). CONCLUSIÓN: El retraso en el diagnóstico mayor a un año es un factor pronóstico de discapacidad.
BACKGROUND: Leprosy, a chronic infectious disease, is one of the major causes of preventable disability. Early treatment prevents neurological damage and disability. AIM: To identify prognostic factors of disability in individuals with multibacillary and paucibacillary leprosy who completed a drug treatment between 2011 and 2017 in Paraguay. METHODS: A case-control study was carried out on 34 patients, of them 9 were cases and 25 controls. Cases were those patients with Grade 1, presented lack of sensation in lower or upper limbs, and those of Grade 2 lagophthalmos, rigidity, visible deformity ulcerations, passive claw, active claw. Controls had no disabilities. RESULTS: Mean age of the patients was 53 ± 15.2 years, 55.9% were male, and 58.9% had primary education or no formal education. Multibacillary leprosy was found in 58.8% of patients; and 64.7% were diagnosed after consulting with two or more physicians. Diagnosis delay of more than one year was significantly (p = 0.047) greater in the cases than in the controls (77.8% vs 12%; OR: 7.44; 95% CI: 1.02-67.86). CONCLUSION: In this study, a diagnosis delay of more than one year is a prognostic factor for disability.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Avaliação da Deficiência , Hanseníase/diagnóstico , Paraguai/epidemiologia , Prognóstico , Estudos de Casos e Controles , Diagnóstico Tardio , Hanseníase/tratamento farmacológicoRESUMO
PURPOSE: Up to 30% of women of reproductive age experience HMB, which has a substantial impact on their quality of life. A clinical care pathway for women with HMB is an unmet need, but its development requires better understanding of the factors that characterise current diagnosis and management of the condition. MATERIALS AND METHODS: This observational, survey-based study assessed the burden, personal experiences, and path through clinical management of women with HMB in Canada, the USA, Brazil, France and Russia using a detailed, semi-structured online questionnaire. After excluding those reporting relevant organic pathology, responses to the questionnaire from 200 women per country were analysed. RESULTS: Around 75% of women with HMB had actively sought information about heavy periods, mostly through internet research. The mean time from first symptoms until seeking help was 2.9 (Standard deviation, 3.1) years. However, 40% of women had not seen a health care professional about the condition. Furthermore, 54% had never been diagnosed or treated. Only 20% had been diagnosed and received appropriate treatment. Treatment was successful in 69% of those patients currently receiving treatment. Oral contraceptives were the treatment most commonly prescribed for HMB, although the highly effective levonorgestrel-intrauterine system was used by only a small proportion of women. CONCLUSIONS: This study provides insight into the typical journey of a woman with HMB which may help patients and health care professionals improve the path to diagnosis and treatment, although further research with long-term outcomes is needed.
Assuntos
Contracepção Hormonal/métodos , Levanogestrel/uso terapêutico , Menorragia/tratamento farmacológico , Qualidade de Vida/psicologia , Adolescente , Adulto , Anticoncepcionais Orais/administração & dosagem , Diagnóstico Tardio , Feminino , Acessibilidade aos Serviços de Saúde , Inquéritos Epidemiológicos , Humanos , Levanogestrel/administração & dosagem , Menorragia/psicologia , Pessoa de Meia-Idade , Inquéritos e Questionários , Resultado do TratamentoRESUMO
Background: Early diagnosis and treatment of multiple sclerosis (MS) is crucial to avoid future disability. The factors that influence diagnostic delay in low prevalence settings have been poorly studied.Objectives: To evaluate the factors associated with a delayed diagnosis of MS after the symptomatic onset.Methods: Clinical records of confirmed MS patients were reviewed. Diagnostic delay was calculated by subtracting the date of onset from the date of diagnosis and categorized as early and delayed, when below and above than 1 year. Logistic regression was performed to evaluate the likelihood of a delayed diagnosis according to age at first symptom, gender, type of the first symptom, progressive vs relapsing onset, diagnostic criteria prevailing at the time of symptom onset, comorbidities, and family history of MS.Results: Data of 525 (95.6%) from a cohort of 549 patients were analyzed. About 69.1% were women. The mean age was 43.2 years. About 86.3% had relapsing-remitting MS. The mean overall diagnostic delay was 3.07 years. About 45.7% of the patients had a delayed diagnosis, and it was dependent on the symptom and the diagnostic criteria prevailing at the onset. Multivariate logistic regression showed onset during the Schumacher (OR = 10.03 [95%CI 1.30-77.1], p = 0.027) and Poser (OR = 4.26 [95%CI 1.25-15.15], p = 0.021) years were associated with delayed MS diagnosis.Conclusions: MS onset before the McDonald diagnostic criteria era is associated with delayed diagnosis.
Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Diagnóstico Precoce , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/epidemiologia , Adulto , Estudos de Coortes , Comorbidade , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PrevalênciaRESUMO
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and interpretation may change in light of evolving knowledge. Similar signs and symptoms in carriers of GLA gene genetic variants of unknown significance or of benign variants may hamper diagnosis. This study reviews rheumatic and immune-mediated manifestations in a cohort of Brazilian FD patients with classic mutations and also in subjects with GLA gene A143T and R118C mutations. Misdiagnoses, time to correct diagnosis or determination of GLA gene status, time to treatment initiation and reasons for treatment prescription in A143T and R118C subjects are reviewed. METHODS: Genotype confirmed classic FD patients (n = 37) and subjects with GLA gene mutations A143T and R118C (n = 19) were referred for assessment. Subjects with R118C and A143T mutations had been previously identified during screening procedures at hemodialysis units. All patients were interviewed and examined by a rheumatologist with previous knowledge of disease and/or mutation status. A structured tool developed by the authors was used to cover all aspects of FD and of common rheumatic conditions. All available laboratory and imaging data were reviewed. RESULTS: Thirty-seven consecutive FD patients were interviewed - 16 male / 21 female (mean age: 43.1 years) and 19 consecutive subjects with GLA gene mutations R118C and A143T were evaluated - 8 male / 11 female (mean age: 39.6 years); 15 [R118C] / 4 [A143T]. Misdiagnosis in FD patients occurred in 11 males (68.8%) and 13 females (61.9%) of which 10 males and 9 females were previously diagnosed with one or more rheumatic conditions, most frequently rheumatic fever or "rheumatism" (unspecified rheumatic disorder). Median time for diagnosis after symptom onset was 16 years (range, 0-52 years). Twenty-two patients were treated with enzyme replacement therapy (ERT) - 13 male and 9 female. Median time to ERT initiation after FD diagnosis was 0.5 years (range, 0-15 years). Rheumatic manifestations occurred in 68.4% of R118C and A143T subjects. Two subjects had been prescribed ERT because of renal disease [R118C] and neuropsychiatric symptoms [A143T]. CONCLUSION: Misdiagnoses occurred in 64.8% of FD patients, most frequently for rheumatic conditions. Median time for correct diagnosis was 16 years. Rheumatic manifestations are also frequent in subjects with GLA gene R118C and A143T mutations. These results reinforce the need to raise awareness and increase knowledge about Fabry disease among physicians, notably rheumatologists, who definitely have a role in identifying patients and determining disease burden. Decision to start treatment should consider expert opinion and follow local guidelines.
Assuntos
Doença de Fabry/diagnóstico , alfa-Galactosidase/genética , Adolescente , Adulto , Idoso , Brasil , Criança , Pré-Escolar , Diagnóstico Tardio/estatística & dados numéricos , Erros de Diagnóstico , Terapia de Reposição de Enzimas/estatística & dados numéricos , Doença de Fabry/complicações , Doença de Fabry/genética , Doença de Fabry/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/etiologia , Febre Reumática/diagnóstico , Fatores de Tempo , Tempo para o Tratamento , Adulto JovemRESUMO
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and interpretation may change in light of evolving knowledge. Similar signs and symptoms in carriers of GLA gene genetic variants of unknown significance or of benign variants may hamper diagnosis. This study reviews rheumatic and immune-mediated manifestations in a cohort of Brazilian FD patients with classic mutations and also in subjects with GLA gene A143T and R118C mutations. Misdiagnoses, time to correct diagnosis or determination of GLA gene status, time to treatment initiation and reasons for treatment prescription in A143T and R118C subjects are reviewed. Methods: Genotype confirmed classic FD patients (n = 37) and subjects with GLA gene mutations A143T and R118C (n = 19) were referred for assessment. Subjects with R118C and A143T mutations had been previously identified during screening procedures at hemodialysis units. All patients were interviewed and examined by a rheumatologist with previous knowledge of disease and/or mutation status. A structured tool developed by the authors was used to cover all aspects of FD and of common rheumatic conditions. All available laboratory and imaging data were reviewed. Results: Thirty-seven consecutive FD patients were interviewed - 16 male / 21 female (mean age: 43.1 years) and 19 consecutive subjects with GLA gene mutations R118C and A143T were evaluated - 8 male / 11 female (mean age: 39.6 years); 15 [R118C] / 4 [A143T]. Misdiagnosis in FD patients occurred in 11 males (68.8%) and 13 females (61.9%) of which 10 males and 9 females were previously diagnosed with one or more rheumatic conditions, most frequently rheumatic fever or "rheumatism" (unspecified rheumatic disorder). Median time for diagnosis after symptom onset was 16 years (range, 0-52 years). Twenty-two patients were treated with enzyme replacement therapy (ERT) - 13 male and 9 female. Median time to ERT initiation after FD diagnosis was 0.5 years (range, 0-15 years). Rheumatic manifestations occurred in 68.4% of R118C and A143T subjects. Two subjects had been prescribed ERT because of renal disease [R118C] and neuropsychiatric symptoms [A143T]. Conclusion: Misdiagnoses occurred in 64.8% of FD patients, most frequently for rheumatic conditions. Median time for correct diagnosis was 16 years. Rheumatic manifestations are also frequent in subjects with GLA gene R118C and A143T mutations. These results reinforce the need to raise awareness and increase knowledge about Fabry disease among physicians, notably rheumatologists, who definitely have a role in identifying patients and determining disease burden. Decision to start treatment should consider expert opinion and follow local guidelines.(AU)
Assuntos
Humanos , Doença de Fabry/diagnóstico , Erros de Diagnóstico , Brasil , Estudos de Coortes , Diagnóstico TardioRESUMO
This report describes a 30-year-old immunocompetent male with new-onset seizures, later found on imaging to have 2 enhancing lesions in the brain. The patient underwent a left parietal craniectomy with resection of one of the masses, which demonstrated focal areas of necrosis and many small cystic structures positive for periodic acid-Schiff and Gomori's methenamine silver special stain. Numerous laboratory examinations, including HIV test, rapid plasma reagin, toxoplasma immunoglobulin G and immunoglobulin M, Lyme, cytomegalovirus, tuberculosis, cysticercosis, and Echinococcus serology, were all negative. Despite negative cerebrospinal fluid (CSF) culture and several negative CSF antigen tests, continued investigation, and follow-up, CSF antigen testing ultimately revealed Cryptococcus as the causative agent. In light of the mysterious and unusual presentation, the authors discuss potential infectious differential diagnoses in patients with atypical clinical presentation, laboratory tests, and surgical pathology.
Assuntos
Meningite Criptocócica/complicações , Convulsões/microbiologia , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/microbiologia , Encéfalo/cirurgia , Cryptococcus , Diagnóstico Tardio , Humanos , Imunocompetência , Imageamento por Ressonância Magnética , Masculino , Meningite Criptocócica/diagnóstico , Meningite Criptocócica/diagnóstico por imagem , Meningite Criptocócica/cirurgia , Neuroimagem , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Tomografia Computadorizada por Raios XRESUMO
Introducción: el cáncer de pulmón es el tumor maligno más frecuente en el mundo, en Cuba es la segunda causa de muerte, su pronóstico depende de diferentes factores entre ellos el intervalo entre el primer síntoma y el inicio del tratamiento. Objetivo: determinar los factores que influyen en la demora en el diagnóstico de los pacientes con neoplasia de pulmón. Métodos: se realizó un estudio descriptivo, retrospectivo y longitudinal de los pacientes egresados vivos con diagnóstico de neoplasia de pulmón en el Hospital Militar Dr. Carlos J. Finlay en el período comprendido entre enero 2016 a enero 2017. Resultados: la neoplasia de pulmón fue más frecuente en mayores de 50 años, del sexo masculino y con estrecha relación con el hábito de fumar, la falta de aire fue el principal síntoma por el que acudieron los pacientes después de un mes de inicio de la sintomatología. La estadía hospitalaria fue superior a los 20 días y se realizó el diagnóstico histológico en pocos pacientes. Conclusiones: la demora en el diagnóstico de la neoplasia de pulmón influye en su supervivencia, pues no se les puede realizar un tratamiento oncoespecífico(AU)
Introduction: lung cancer is the most frequent malignant tumor in the world, in Cuba it is the second cause of death, its prognosis depends on different factors including the interval between the first symptom and the start of treatment. Objective: to determine the factors that influence the delay in the diagnosis of patients with lung neoplasia. Methods: a descriptive, retrospective and longitudinal study of live patients with diagnosis of lung neoplasm was performed at the Military Hospital Dr. Carlos J. Finlay in the period from January 2016 to January 2017. Results: lung neoplasia was more frequent in men over 50 years of age, and with a close relationship with smoking, lack of air was the main symptom for which patients came after a month of onset of smoking symptomatology. The hospital stay was longer than 20 days and the histological diagnosis was made in a few patients. Conclusions: the delay in the diagnosis of lung neoplasia influences their survival, since they cannot be treated onco-specific(AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Fumar/fisiopatologia , Diagnóstico Tardio/prevenção & controle , Neoplasias Pulmonares/epidemiologia , Epidemiologia Descritiva , Estudos Retrospectivos , Estudos LongitudinaisRESUMO
O Mieloma Múltiplo (MM) é uma neoplasia maligna de plasmócitos, caracterizada porhipercalcemia, insuficiência renal, anemia e doença óssea. A incidência da doença vemaumentando nos últimos anos nos EUA e no Brasil. O atraso no diagnóstico do MM é umacaracterística comum no Brasil e em outros países, o que leva a complicações antes dotratamento, maior risco de falha do tratamento, de progressão da doença e de óbito. Este estudoteve por objetivo identificar os fatores de risco à sobrevida relacionados à resposta à indução,resposta ao transplante autólogo de medula óssea, progressão da doença pós-indução e óbito.Cem pacientes atendidos em duas unidades de saúde, na cidade do Rio de Janeiro, entre 2010e 2015 foram avaliados quanto as suas características sociodemográficas, quadro clínico eexames laboratoriais. A resposta à indução, os dados do transplante autólogo de células troncohematopoiéticas (TACTH), da progressão e do óbito foram registrados utilizando os modelosde Cox simples e múltiplo, ajustado por idade, tipo de protocolo e origem do paciente. Variáveisquantitativas foram categorizadas a partir de gráficos dos efeitos nos psplines, a fim explorardiferentes pontos de corte para os exames laboratoriais. P-valores ≤ 0,05 indicaram testesestatisticamente significativos. Cinquenta e um de 80 pacientes avaliados para o tratamento deindução apresentaram resposta não adequada. Os principais fatores associados à falha naindução foram níveis baixos de hemoglobina (Hb), percentuais elevados de plasmócitos namedula óssea e estádios avançados dos estadiamentos de Durie & Salmon (D&S) eInternational Staging System (ISS). A melhora da intensidade da resposta pós-TACTH ocorreuem 17 de 35 pacientes submetidos ao procedimento. Os pacientes com atraso no diagnósticoalém de cinco meses, IMC baixo ou normal e falha à indução foram os que mais se beneficiaramdo TACTH...
Multiple myeloma (MM) is a malignant neoplasm of plasma cells, characterized byhypercalcemia, renal failure, anemia and bone disease. The incidence of the disease hasincreased in recent years in USA and Brazil. The delay in the diagnosis of MM is a commonfeature in Brazil and in other countries, which leads to complications before treatment,increased risk of treatment failure, disease progression and death. This study aimed to identifysurvival risk factors related to response to induction, response to autologous stem celltransplantation (ASCT), post-induction desease progression, and death. One hundred patientsattended at two health centers, in the city of Rio de Janeiro, between 2010 and 2015, theirsociodemographic characteristics, clinical status and laboratory tests were evaluated. Inductionresponse, ASCT, progression and death data were recorded using single and multiple Coxmodels, adjusted for age, protocol type, and patient origin. Quantitative variables werecategorized using psplines graphics in order to explore different cutoff points for laboratorytests. P-values ≤ 0.05 indicated statistically significant tests. Fifty-one of 80 patients evaluatedfor induction treatment presented an inadequate response. The main factors associated toinduction failure were low levels of hemoglobin (Hb), high percentage of bone marrow plasmacells and advanced stages of the Durie & Salmon (D & S) and the International Staging System(ISS). The improvement in the intensity of the post-ASCT response occurred in 17 of 35patients submitted to the procedure. Patients with a diagnosis delay of more than five months,low or normal BMI and response not adequate to induction were the ones that benefited themost from ASCT...
Assuntos
Humanos , Estudos de Coortes , Mieloma Múltiplo/diagnóstico , Fatores de Risco , Sobrevida , Transplante de Medula Óssea , Diagnóstico Tardio , Incidência , Quimioterapia de Indução , Mortalidade , Resultado do TratamentoRESUMO
PURPOSE: The hallmark of Primary immunodeficiencies (PID) is unusual infection, although other immunological non-infectious manifestations such as autoimmunity, allergy and cancer are often present. Most published reports focus on one disease or defect groups, so that a global prevalence of non-infectious manifestations of PID is hard to find. We aimed to describe the clinical features of our pediatric patients with PID, as well as the frequency and evolution of allergy, cancer and autoimmunity. METHODS: We reviewed all the available charts of patients being followed for PID from 1991 to the spring of 2012 at the National Institute of Pediatrics, Mexico City, to describe their demographic, clinical and laboratory features. Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves. RESULTS: There were 168 charts available, from which we excluded one duplicate and six equivocal diagnoses. We studied the charts of 161 PID patients (68% male, 86% alive), mostly from the center of the country, with a positive family history in 27% and known consanguinity in 11%. Eighty percent of the patients were diagnosed during the last decade. Current median age was 124 months; median age at onset of infections, 12 months; median age at diagnosis, 52 months; median age at death, 67.5 months. Severe infection and bleeding were the cause of 22 deaths. Eighty-six percent of all patients had at least one infection, while non-infectious manifestations had a global prevalence of 36%, namely: autoimmunity 19%, allergies 17%, and cancer 2.4%. Survival curves were not significantly different when compared by decade of diagnosis. CONCLUSIONS: Compared to other registry reports, we found a lower prevalence of antibody defects, and of associated allergy and cancer. We could only locate two isolated IgA deficiencies and four cases of cancer among our PID patients. Although antibody defects are the most prevalent group (30%), the distribution we found is similar to that reported in Iran, Kuwait, Egypt and Taiwan, with a close 27% share for phagocyte defects, and 26% for the formerly called "well-defined" syndromes. Of note, autoimmune and inflammatory complications are high among our patients with chronic granulomatous disease, as has been reported in both the United States and Japan, but not in Europe.
Assuntos
Doenças Autoimunes/epidemiologia , Hipersensibilidade/epidemiologia , Síndromes de Imunodeficiência/epidemiologia , Infecções/epidemiologia , Neoplasias/epidemiologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/mortalidade , Criança , Consanguinidade , Feminino , Humanos , Hipersensibilidade/diagnóstico , Hipersensibilidade/mortalidade , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/mortalidade , Infecções/diagnóstico , Infecções/mortalidade , Masculino , México , Neoplasias/diagnóstico , Neoplasias/mortalidade , Fenótipo , Prevalência , Análise de SobrevidaRESUMO
Introducción: la espondilitis representa un desafío diagnóstico, ya que el dolor lumbar, su principal manifestación clínica, constituyeun motivo de consulta muy frecuente en la práctica cotidiana y carece de especificidad. Por lo tanto, resulta indispensablemantener una elevada sospecha clínica. Objetivo: Analizar las características clínicas, analíticas, microbiológicas e imagenológicas,el tratamiento, la evolución y los factores pronósticos de pacientes internados por espondilodiscitis en el Hospital Provincial delCentenario, desde enero de 2011 a marzo de 2015, excluyéndose los casos postquirúrquicos. Resultados: Se analizaron 19 pacientescon una edad media 48±11 años, 63% varones. Se identificaron como comorbilidades: diabetes (37%), obesidad (16%), etilismo(21%), insuficiencia renal crónica en hemodiálisis (16%), HIV (11%), adicción EV (11%). Los gérmenes más frecuentes fueron losestafilococos (52%). Al ingreso el 94% presentó dolor, 73% fiebre y 36% foco neurológico. La media de tiempo de evolución desíntomas hasta ingreso fue 62±80 días (rango 4-360 días). La velocidad de eritrosedimentación fue elevada en todos los pacientes,y sólo 37% presentaban leucocitosis. La vancomicina fue el antibiótico más utilizado. El 37% de los pacientes presentaba infeccióndiseminada. La mortalidad fue del 26%. Los pacientes que tuvieron un tiempo de evolución al ingreso mayor a 25 días presentaronpeor evolución (colecciones, foco neurológico o muerte) (p<0,05). Conclusiones: en esta serie, la asociación de la consulta tardíacon la mala evolución destaca la importancia de considerar las pautas de alarma en centros de atención primaria para posibilitar undiagnóstico más temprano.
Introduction: Spondylodiscitis represents a diagnostic challenge since the main clinical manifestation, low back pain, is very frequent andnonspecific, and often impedes a timely diagnosis. Clinical suspicion is essential. Objective: to analyze the clinical, analytical, microbiological,and radiological features, as well as outcome and prognostics factors, in patients with spondylodiscitis admitted to the Hospital Provincialdel Centenario (Rosario, Argentina), from January 2011 to March 2015. Postsurgical cases were excluded. Results: Nineteen patients wereincluded. Mean age was 48±11 years, 63% were males. We identified the following comorbid diseases: diabetes (37%), obesity (16%),alcoholism (21%), hemodialysis-dependent chronic kidney disease (16%), HIV (11%), intravenous drug abuse (11%). The most frequentcausative organism was Staphylococcus sp. (52%). Upon admission 94% of patients presented pain, 73% fever, and 36% neurologicalinvolvement. The average time from the onset of symptoms to diagnosis was 62±80 days (range 4-360). The erythrocyte sedimentation ratewas raised in all the patients, and only 37% had leukocytosis. Vancomycin was the most frequently prescribed antibiotic. Disseminatedinfection was present in 37% of patients. The mortality rate was 26%. Patients with a time lag to diagnosis higher than 25 days had worseoutcome (suppurative collections, neurological involvement, or death) compared to those with earlier diagnosis (p <0.05). Conclusions:The association of late consultation with poor outcome in this study emphasizes the importance of educating the general population toencourage attendance to medical centers. Physicians in primary care settings must be trained to identify pain pattern, and incorporateclinical perspectives capable of recognizing a defined syndrome at first contact, in other to achieve a better outcome.Key words: Spondylodiscitis, comorbid conditions, diagnostic delay, outcome.
Assuntos
Humanos , Masculino , Adulto , Feminino , Pessoa de Meia-Idade , Discite/diagnóstico , Discite/microbiologia , Discite/mortalidade , Discite/patologia , Discite/prevenção & controle , Discite/terapia , Comorbidade , Diagnóstico , Dor Lombar , Evolução Clínica , Prognóstico , VancomicinaRESUMO
INTRODUCTION: The incidence of tuberculosis (TB) among the native population in Spain continues to decrease, resulting in a higher proportion of foreign-born cases. The aim of this study was to identify the differential TB characteristics within the immigrant population with respect to the native population in the South Granada Health Area, Spain. METHODS: This was a descriptive study, including all cases of TB diagnosed during the period 2003-2010. Cases were identified through a prospective database. A logistic regression analysis was performed to determine differential characteristics. RESULTS: From 319 TB cases diagnosed, 247 were natives and 72 (22.6%) immigrants, and 272 were pulmonary tuberculosis. The following variables were significantly associated with immigrant TB cases: age<35 years (OR=4.75, CI: 2.72-8.31), higher percentage of cavitated chest X-ray (OR=2.26, CI: 1.20-4.20), higher percentage of smear-positive cases (OR=1.80, CI: 1.02-3.16), longer diagnostic delay in smear-positive pulmonary TB (median 32 days vs. 21 days P=.043), and lower total lethality (OR=0.12; CI: 0.01-0.89). CONCLUSIONS: The incidence of TB has remained constant in the South Granada Health Area due to the increase in cases among immigrants. Compared with native TB patients, immigrant patients were younger and had more advanced disease (higher percentage of smear-positive cases and higher percentage of cavitated chest X-ray) and longer diagnostic delay in smear-positive pulmonary TB, indicating poorer TB control. Strategies for earlier diagnosis of TB in immigrants are essential.
Assuntos
Emigrantes e Imigrantes , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Espanha/epidemiologia , Tuberculose/epidemiologia , Adulto JovemRESUMO
Introducción. La leucemia linfoblástica aguda (LLA) es una enfermedad potencialmente curable en la que el éxito del tratamiento depende de la detección oportuna de la enfermedad; por lo anterior, resulta relevante identificar los factores que influyen en el periodo previo al diagnóstico. El objetivo de este estudio es describir el intervalo entre el inicio de los síntomas atribuibles a la enfermedad y la confirmación diagnóstica, en términos del tiempo transcurrido (lag-time), del estímulo iatrotrópico y de la atención médica recibida, así como estimar la asociación de estos factores con la mortalidad. Métodos. Se revisaron los expedientes clínicos de 182 pacientes pediátricos con LLA en 9 centros de atención oncológica en la República Mexicana y se realizaron entrevistas a sus familiares para reconstruir el periodo previo al diagnóstico. Resultados. Se incluyeron 99 pacientes vivos y 83 que fallecieron, con una media de edad de 7.3 ± 4.7 años. El promedio de tiempo entre el inicio de los síntomas y el diagnóstico fue de 43.5 ± 22.5 días y acudieron a un promedio de 2.3 consultas antes de la confirmación diagnóstica. Los principales motivos para solicitar la atención médica fueron: astenia y adinamia (47.4%), fiebre (44.8%), palidez (44.3%), hiporexia/anorexia (20.9%) y cefalea (19.9%). El número de médicos especialistas no oncólogos consultados y de consultas previas al diagnóstico resultaron factores protectores para la mortalidad (OR 0.77 y 0.64, respectivamente). Conclusiones. El tiempo de espera entre el inicio de los síntomas y la confirmación diagnóstica es mayor al reportado en países desarrollados; esto se debe, principalmente, a la atención médica recibida. El número de médicos y de consultas previas resultaron factores protectores para mortalidad, probablemente como consecuencia de la detección oportuna y la vigilancia médica de los síntomas inespecíficos que orientan a la presencia de la enfermedad.
Background. Acute lymphoblastic leukemia (ALL) is a potentially curable disease where success of the treatment depends on the timely detection of the disease; therefore, it is important to identify those influencing factors during the prediagnostic period. The objective of this study was to describe the interval time from onset of symptoms attributable to the disease to the diagnostic confirmation in terms of elapsed time (lag-time), iatrotropic stimulus and received medical care, as well as to estimate the association of these factors with mortality. Methods. We reviewed 182 clinical files from pediatric patients with ALL in nine cancer treatment centers in Mexico and conducted interviews with their families to rebuild the run-up time until diagnosis. Results. We included 99 living patients and 83 patients who died; average age of the patients was 7.3 ± 4.7 years. The average time between symptom onset and diagnosis was 43.5 ± 22.5 days. Patients had an average of 2.3 consultations prior to diagnostic confirmation. The main reasons for requesting medical attention were asthenia and adynamia (47.4%), fever (44.8%), pallor (44.3%), hyperoxia/anorexia (20.9%) and headache (19.9%). The number of non-oncological physicians surveyed and number of consultations until diagnosis were protective factors for mortality (OR 0.77 and 0.64, respectively). Conclusions. Time between symptom onset and diagnostic confirmation is longer than what has been reported in developed countries mainly due to medical attention received. The number of physicians and number of prior consultations were protective factors for mortality, probably as a result of early detection and medical surveillance of nonspecific symptoms that lead to the presence of the disease.