A mixed methods investigation of parental factors in non-attendance at general paediatric hospital outpatient appointments

Non-attendance at paediatric outpatient appointments results in delayed diagnosis and treatment, putting children at risk of avoidable ill health, and incurring considerable health service costs. Links between missed appointments and clinical, socio-demographic, and access-related factors have been indicated, but parental cognitions associated with non-attendance have yet to be investigated. The aims of this project were to evaluate the effectiveness and theoretical bases of existing interventions designed to reduce non-attendance; to consider the ways in which missed appointments are managed by healthcare providers; to explore parents’ beliefs and experiences of attending and missing appointments; and to investigate the factors underlying these beliefs. A systematic literature review focusing on non-attendance interventions was conducted Within a mixed methods framework, interviews were conducted with healthcare professionals, subsequent interviews were conducted with parents who had attended or missed a General Paediatric outpatient appointment, and a cross-sectional questionnaire study of parents’ beliefs was implemented. The systematic review revealed that text message appointment reminders are effective at reducing non-attendance rates, but that no interventions have thus far been developed using theories of behaviour. Healthcare professionals recognised both barriers and parents’ beliefs as influences on attendance, but also believed there were ‘types’ of families who miss appointments. Healthcare professionals disagreed somewhat about how non-attendance should best be managed. The parent interview study found six themes. The findings reflect parents’ perceptions about the importance of attending and of their ability to attend. The results of the questionnaire study corroborate this structure of beliefs as the analysis produced two factors, the perceived ‘worth’ of attending and anticipated ‘worry’ when attending. This thesis demonstrates an original approach to investigating non-attendance at children’s outpatient appointments, using mixed methods and adopting a psychological rather than service-use perspective. The findings contribute to Health Psychology theory and offer recommendations for healthcare providers.

The relationship between spirituality, knowledge and tuberculosis (TB) medication adherence among African Americans and Haitians

Tuberculosis (TB) is an infectious disease and nonadherence to medication can lead to new cases, multi-drug resistant TB, or potential death. Additionally, healthcare professionals and individuals with TB’s knowledge of the disease and medication adherence are crucial for successful completion of medication therapy. Patient education is one of the most important aspects of care provided in healthcare settings (CDC, 1994). TB tends to disproportionately affect minority and economically disadvantaged patient populations. The purpose of this mixed method study was to explore the relationship between spirituality, knowledge, and TB medication adherence among African Americans and Haitians. The primary research question was: What is the relationship between spirituality, knowledge and TB medication adherence among African Americans and Haitians? Quantitative data were gathered from 33 questionnaires and analyzed by two ANOVAs and four chi square analyses. The null hypothesis was not rejected; there was not a statistically significant relationship between spirituality and TB medication adherence (p =.208) among the study’s African Americans and Haitians. Qualitative data concerning participants’ knowledge of TB, gathered from 16 individual interviews further informed this analysis. Secondary research questions examined the role of spirituality, knowledge of TB and medication adherence among African Americans and Haitians. Four common themes emerged across both groups to answer the secondary research questions. Interviews revealed the themes: (a) God is in control, (b) stigmatization of TB, (c) lack of knowledge, and (d) fear of death. The theme lack of knowledge about TB was found to contribute to stigmatization of TB patients. However, in this study stigma and lack of knowledge were related to initial denial of symptoms and delayed diagnosis, but not found to be related to TB medication adherence. This study could help adult educators and health educators enhance their educational interventions, develop a better understanding of adult learning, resulting in early diagnosis and treatment ultimately decreasing transmission of TB, drug resistance, and potential death. Educators should be aware that TB patients’ spirituality may be an important part of how they cope with having TB. A larger scale study, conducted at multiple locations should be conducted to extend the findings of this small scale exploratory study. Further studies should be done to better determine what patient, healthcare provider and health care system factors might mediate relationships that may exist between lack of knowledge of TB, stigma and TB medication adherence.

Diagnosing primary ciliary dyskinesia: an international patient perspective

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing. A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically. 35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the “inconclusive” diagnostic status. These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease.

Atuação das equipes da atenção primária na identificação precoce do câncer infanto-juvenil

Identificar o conhecimento de profissionais da atenção primária sobre a identificação precoce do câncer infanto-juvenil e descrever o desempenho das equipes de saúde antes da realização de treinamentos para identificação precoce do câncer infanto-juvenil. Método: Os dados foram obtidos por um questionário e grupo focal com 30 profissionais de uma Unidade de Saúde da Família, e analisados por temas geradores. Resultados: Os profissionais possuem conhecimentos sobre a identificação do câncer infanto-juvenil, e, demandam conhecer mais sobre os sinais e sintomas para identificação precoce, e a prestação de uma assistência sistematizada. Conclusão: Torna-se fundamental estimular a qualificação dos profissionais da atenção primária para a identificação precoce e o fortalecimento de uma rede de assistência que proporcione atendimento integral e a redução no retardo do diagnóstico de câncer infanto-juvenil

Traumatic abdominal wall hernia. Case report

Despite the high incidence of abdominal traumas, traumatic abdominal wall hernias (TAWHs) remain rare probably because of elasticity of the abdominal wall. The TAWH is due to blunt abdominal trauma with disruption of the abdominal wall muscles and fascia with intact overlying skin. TAWH can be classified into high energy injures (generally motor vehicle accidents) and low energy injures (impact on a small blunt object). Common example of the latter type is a fall onto a bicycle handlebar. The mechanism of the trauma includes sudden increase of intra-abdominal pressure and extensive shear forces applied to the abdominal wall. The diagnosis of TAWH is difficult in the Emergency Room because during the primary diagnostic process most attention is directed toward the detection of internal injures and TAWH can be missed. In this article we report a case of TAWH caused by a work accident (an heavy steel tube fallen onto the abdominal wall of the patient from a height of five meters) with delayed diagnosis.

Recurrent gallstone ileus: case report and literature review

The gallstone ileus is a rare complication of cholelithiasis and it represents the 1-4% of small intestinal mechanical obstruction. Gallstone is generally wedged in the terminal ileum, even if unusual locations have been described. The literature reports a very high morbidity and mortality, often because misdiagnosis or delayed diagnosis. There is no unique opinion in literature about the choice between one-stage and two-stage surgery. We report a clinical case that summarizes the diagnostic and therapeutic difficulties of gallstone ileus.

Atuação das equipes da atenção primária na identificação precoce do câncer infanto-juvenil

Identificar o conhecimento de profissionais da atenção primária sobre a identificação precoce do câncer infanto-juvenil e descrever o desempenho das equipes de saúde antes da realização de treinamentos para identificação precoce do câncer infanto-juvenil. Método: Os dados foram obtidos por um questionário e grupo focal com 30 profissionais de uma Unidade de Saúde da Família, e analisados por temas geradores. Resultados: Os profissionais possuem conhecimentos sobre a identificação do câncer infanto-juvenil, e, demandam conhecer mais sobre os sinais e sintomas para identificação precoce, e a prestação de uma assistência sistematizada. Conclusão: Torna-se fundamental estimular a qualificação dos profissionais da atenção primária para a identificação precoce e o fortalecimento de uma rede de assistência que proporcione atendimento integral e a redução no retardo do diagnóstico de câncer infanto-juvenil

Missed Chopart dislocation: the importance of being aware of midtarsal injuries

Chopart (midtarsal) joint dislocations are relatively rare but potentially serious injuries. Their low prevalence and the possible absence of evident radiological findings cannot justify misdiagnosis because an adequate and correct treatment is required to achieve a proper clinical outcome. A midtarsal joint dislocation in a 19-year-old-woman is described, in which diagnosis was performed at 8 weeks of evolution. An open reduction was performed by a double approach (medial and lateral) and a Kirschner wire joint stabilization. At one-year of follow-up, loss of reduction was not observed and the patient was pain-free, although she referred to functional limitation when running. Besides describing the treatment of this particular injury, this study is aimed at increasing the level of clinical suspicion in order to avoid misdiagnosis such as occurred in our case.

Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.

Delayed HIV diagnosis and initiation of antiretroviral therapy: inequalities by educational level, COHERE in EuroCoord.

OBJECTIVES In Europe and elsewhere, health inequalities among HIV-positive individuals are of concern. We investigated late HIV diagnosis and late initiation of combination antiretroviral therapy (cART) by educational level, a proxy of socioeconomic position. DESIGN AND METHODS We used data from nine HIV cohorts within COHERE in Austria, France, Greece, Italy, Spain and Switzerland, collecting data on level of education in categories of the UNESCO/International Standard Classification of Education standard classification: non-completed basic, basic, secondary and tertiary education. We included individuals diagnosed with HIV between 1996 and 2011, aged at least 16 years, with known educational level and at least one CD4 cell count within 6 months of HIV diagnosis. We examined trends by education level in presentation with advanced HIV disease (AHD) (CD4 <200 cells/μl or AIDS within 6 months) using logistic regression, and distribution of CD4 cell count at cART initiation overall and among presenters without AHD using median regression. RESULTS Among 15 414 individuals, 52, 45,37, and 31% with uncompleted basic, basic, secondary and tertiary education, respectively, presented with AHD (P trend <0.001). Compared to patients with tertiary education, adjusted odds ratios of AHD were 1.72 (95% confidence interval 1.48-2.00) for uncompleted basic, 1.39 (1.24-1.56) for basic and 1.20 (1.08-1.34) for secondary education (P < 0.001). In unadjusted and adjusted analyses, median CD4 cell count at cART initiation was lower with poorer educational level. CONCLUSIONS Socioeconomic inequalities in delayed HIV diagnosis and initiation of cART are present in European countries with universal healthcare systems and individuals with lower educational level do not equally benefit from timely cART initiation.

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

Late Gadolinium Enhancement Magnetic Resonance Imaging in the Diagnosis and Prognosis of Endomyocardial Fibrosis Patients

Background-Endocardial fibrous tissue (FT) deposition is a hallmark of endomyocardial fibrosis (EMF). Echocardiography is a first-line and the standard technique for the diagnosis of this disease. Although late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) allows FT characterization, its role in the diagnosis and prognosis of EMF has not been investigated. Methods and Results-Thirty-six patients (29 women; age, 54 +/- 12 years) with EMF diagnosis after clinical evaluation and comprehensive 2-dimensional Doppler echocardiography underwent cine-CMR for assessing ventricular volumes, ejection fraction and mass, and LGE-CMR for FT characterization and quantification. Indexed FT volume (FT/body surface area) was calculated after planimetry of the 8 to 12 slices obtained in the short-axis view at end-diastole (mL/m(2)). Surgical resection of FT was performed in 16 patients. In all patients, areas of LGE were confined to the endocardium, frequently as a continuous streak from the inflow tract extending to the apex, where it was usually most prominent. There was a relation between increased FT/body surface area and worse New York Heart Association functional class and with increased probability of surgery (P<0.05). The histopathologic examination of resected FT showed typical features of EMF with extensive endocardial fibrous thickening, proliferation of small vessels, and scarce inflammatory infiltrate. In multivariate analysis, the patients with FT/body surface area >19 mL/m(2) had an increased mortality rate, with a relative risk of 10.8. Conclusions-Our study provides evidence that LGE-CMR is useful in the diagnosis and prognosis of EMF through quantification of the typical pattern of FT deposition. (Circ Cardiovasc Imaging. 2011;4:304-311.)

Guidelines for the diagnosis and treatment of schistosomal myeloradiculopathy

Schistosomal myeloradiculopathy is the most severe and disabling ectopic form of Schistosoma mansoni infection. The prevalence of SMR in centres in Brazil and Africa that specialise in attending patients with non traumatic myelopathy is around 5%. The initial signs and symptoms of the disease include lumbar and/or lower limb pain, paraparesis, urinary and intestinal dysfunctions, and impotence in men. The cerebrospinal fluid of SMR patients shows an increase in protein concentration and in the number of mononuclear cells in 90% of cases; eosinophils have been reported in 40%. The use of magnetic resonance imaging is particularly valuable in the diagnosis of Schistosomal myeloradiculopathy. The exclusion of other myelopathies and systemic diseases remains mandatory. Early diagnosis and treatment with steroids and schistosomicides provide a cure for most patients, whilst delayed treatment can result in irreversible physical disabilities or death. To improve awareness concerning Schistosomal myeloradiculopathy amongst public health professionals, and to facilitate the control of the disease, the Brazilian Ministry of Health has launched a program of education and control of this ectopic form of schistosomiasis. The present paper reviews current methods for the diagnosis of SMR and outlines protocols for treatment of the disease.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation. METHODS: HCM probands were screened for mutation in the MYH7, MYBPC3, TNNT2 and TNNI3 genes. Carriers of the MYBPC3 IVS20-2A>G mutation were genotyped with 8 microsatellites flanking this gene. The age of this MYBPC3 mutation was inferred with the software ESTIAGE. The age at first symptom, diagnosis, first complication, first severe complication and the rate of sudden death were compared between carriers of the IVS20-2 mutation (group A) and carriers of all other mutations (group B) using time to event curves and log rank test. RESULTS: Out of 107 HCM probands, 45 had a single heterozygous mutation in one of the 4 tested sarcomeric genes including 9 patients with the MYBPC3 IVS20-2A>G mutation. The IVS20-2 mutation in these 9 patients and their 25 mutation carrier relatives was embedded in a common haplotype defined after genotyping 4 polymorphic markers on each side of the MYBPC3 gene. This result supports the hypothesis of a common ancestor. Furthermore, we evaluated that the mutation occurred about 47 generations ago, approximately at the 10th century.We then compared the clinical profile of the IVS20-2 mutation carriers (group A) and the carriers of all other mutations (group B). Age at onset of symptoms was similar in the 34 group A cases and the 73 group B cases but group A cases were diagnosed on average 15 years later (log rank test p = 0.022). Age of first complication and first severe complication was delayed in group A vs group B cases but the prevalence of sudden death and age at death was similar in both groups. CONCLUSION: A founder mutation arising at about the 10th century in the MYBPC3 gene accounts for 8.4% of all HCM in center east France and results in a cardiomyopathy starting late and evolving slowly but with an apparent risk of sudden death similar to other sarcomeric mutations.