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The present study compared the age of first solid foods in a cohort of preterm infants with term infants and identified factors influencing timing of solid food introduction.
Structured interviews on infant feeding practices, growth and medical status at term equivalence and at 3, 6, 9 and 12 months corrected postnatal age. The age of solid food introduction was compared between term and preterm infants, and the influence of maternal, infant and milk feeding factors was assessed.
This prospective longitudinal study recruited primary carers of preterm and term infants from a regional metropolitan referral hospital in eastern Australia.
One hundred and fifty infants (preterm, n 85; term, n 65).
When corrected for prematurity, preterm infants received solid foods before the recommended age for the introduction of solid foods for term infants. Median introduction of solid foods for preterm infants was 14 weeks corrected age (range 12–17 weeks). This was significantly less than 19 weeks (range 17–21 weeks) for term infants (P < 0·001). Lower maternal education and male gender were associated with earlier introduction of solid foods among preterm infants.
Preterm infants are introduced to solid foods earlier than recommended for term infants, taking account of their corrected age. Further research is needed to assess any risk or benefit associated with this pattern and thus to develop clear evidence-based feeding guidelines for preterm infants.
Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.
Introduction: Acute aortic syndrome (AAS) is a time sensitive aortic catastrophe that is often misdiagnosed. There are currently no Canadian guidelines to aid in diagnosis. Our goal was to adapt the existing American Heart Association (AHA) and European Society of Cardiology (ESC) diagnostic algorithms for AAS into a Canadian evidence based best practices algorithm targeted for emergency medicine physicians. Methods: We chose to adapt existing high-quality clinical practice guidelines (CPG) previously developed by the AHA/ESC using the GRADE ADOLOPMENT approach. We created a National Advisory Committee consisting of 21 members from across Canada including academic, community and remote/rural emergency physicians/nurses, cardiothoracic and cardiovascular surgeons, cardiac anesthesiologists, critical care physicians, cardiologist, radiologists and patient representatives. The Advisory Committee communicated through multiple teleconference meetings, emails and a one-day in person meeting. The panel prioritized questions and outcomes, using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach to assess evidence and make recommendations. The algorithm was prepared and revised through feedback and discussions and through an iterative process until consensus was achieved. Results: The diagnostic algorithm is comprised of an updated pre test probability assessment tool with further testing recommendations based on risk level. The updated tool incorporates likelihood of an alternative diagnosis and point of care ultrasound. The final best practice diagnostic algorithm defined risk levels as Low (0.5% no further testing), Moderate (0.6-5% further testing required) and High ( >5% computed tomography, magnetic resonance imaging, trans esophageal echocardiography). During the consensus and feedback processes, we addressed a number of issues and concerns. D-dimer can be used to reduce probability of AAS in an intermediate risk group, but should not be used in a low or high-risk group. Ultrasound was incorporated as a bedside clinical examination option in pre test probability assessment for aortic insufficiency, abdominal/thoracic aortic aneurysms. Conclusion: We have created the first Canadian best practice diagnostic algorithm for AAS. We hope this diagnostic algorithm will standardize and improve diagnosis of AAS in all emergency departments across Canada.
Acute aortic dissection (AAD) is a time sensitive, difficult to diagnose, aortic emergency. We sought to explore the quality of history taking in AAD and assess its impact on misdiagnosis.
We studied a retrospective cohort of patients >18 years old who presented to two tertiary care emergency departments from January 1st 2004 – December 31st 2012 and were diagnosed with an acute aortic dissection (AAD) on CT, MRI or TEE. Trained reviewers’ extracted data using a standardized data collection form. The definitions of 5 pain characteristics – character, onset, duration, quality, and radiation were defined a priori.
Data were collected for 194 cases of acute aortic dissection with a mean age of 65(SD 14.1) and 66.7% male, 34(17.6%) missed on initial presentation. Only 20(14.8%) patients were asked all 5 questions. The most common initial incorrect diagnosis were acute coronary syndrome (16, 47%), pulmonary embolism (5, 14.7%) and stroke (4, 11.7%). If <2 questions were asked 1 in 5 cases were missed, 4 times greater than if >2 were asked (P < 0.01).
Clinicians should ask and document the character, onset, duration, radiation and severity of pain in any patient presenting with chest, abdominal or flank pain. A focused history still remains the keystone to reducing misdiagnosis.
In Ireland, attention-deficit hyperactivity disorder (ADHD) is the most commonly diagnosed condition in Child and Adolescent Mental Health Services (CAMHS). However, little is known about the experiences of stakeholders affected by ADHD in their pathways through care, especially in Ireland.
The aim of this stakeholder voice study was to explore stress and coping among parents and Children and Young People (C/YP) affected by ADHD in an Irish context, in order to contribute to knowledge about what works and what needs to change in practice from a service user perspective.
In total, 15 C/YP (7–18 years) with ADHD and their parents participated in semi-structured interviews, which were triangulated using other sources (e.g. visual methods), to contribute to a highly contextualised understanding of lived experiences. Transcribed interviews were analysed using a deductive approach to Thematic Analysis informed by a theoretical framework of stress and coping theory and Bronfenbrenner’s bio-ecological model.
Some degree of difficulty in their pathway through care was identified by participants in all case studies. Findings identified barriers to diagnosis, including delays in diagnosis, such as scepticism, stigma, and label avoidance from gatekeepers; poor multiagency working; and misdiagnosis. Once received, diagnosis may serve as an access to empowerment, providing knowledge, understanding, and support. However, C/YP and their parents also reported distressing experiences and a sense of powerlessness within CAMHS and with treatment; such as tensions around medical management, stigma, and a lack of child- and family-centred practice.
Despite the professionals and the systematic supports available, stakeholders did not feel that they were fully understood, listened to, or participants in accessing diagnosis and care planning.
Background: Post-hypoxic myoclonus is broadly divided into myoclonic status epilepticus (MSE) and Lance-Adams syndrome (LAS), where diagnosis depends on clinical and electroencephalographic (EEG) findings. Positive rolandic sharp waves (PRS) are a classic EEG finding in pre-term infants with white matter necrosis, but they are not known to be epileptogenic and have never been described in adults. Methods: We report a unique case of PRS correlated with myoclonic seizures in a post-hypoxic adult patient. Results: Shortly after cardiac arrest, a 21-year-old woman developed multifocal post-hypoxic myoclonus. Early development of myoclonus suggested MSE, but her EEG findings were atypical for MSE; initially, the only notable feature on EEG were subtle PRS. LAS did not fit the clinical picture or EEG findings. As myoclonus persisted over the following weeks, PRS evolved on EEG into positive rolandic predominant generalized polyspike-wave complexes that became definitively time-locked to each myoclonic jerk. PRS were diagnosed as epileptogenic and frequent myoclonic jerks were diagnosed as continuous myoclonic seizure. Myoclonus resolved to medication and mental status returned to baseline. Conclusions: We report for the first time that PRS can appear in adult patients and be epileptogenic, and produce a non-classical variant of post-hypoxic myoclonus that carries good prognosis.
Background: To determine whether exosomal microRNAs (miRNAs) in CSF of patients with FTD can serve as diagnostic biomarkers, we assessed miRNA expression in the Genetic FTD Initiative (GENFI) cohort and in sporadic FTD. Methods: GENFI participants were either carriers of a pathogenic mutation or at risk of carrying a mutation because a first-degree relative was a symptomatic mutation carrier. Exosomes were isolated from CSF of 23 -pre-symptomatic and 15 symptomatic mutation carriers, and 11 healthy non-mutation carriers. Expression of miRNAs was measured using qPCR arrays. MiRNAs differentially expressed in symptomatic compared to pre-symptomatic mutation carriers were evaluated in 17 patients with sporadic FTD, 13 patients with sporadic Alzheimer’s disease (AD), and 10 healthy controls (HCs). Results: In the GENFI cohort, miR-204-5p and miR-632 were significantly decreased in symptomatic compared to pre-symptomatic mutation carriers. Decrease of miR-204-5p and miR-632 revealed receiver operator characteristics with an area of 0.89 [90% CI: 0.79-0.98] and 0.81 [90% CI: 0.68-0.93], and when combined an area of 0.93 [90% CI: 0.87-0.99]. In sporadic FTD, only miR-632 was significantly decreased compared to sporadic AD and HCs. Decrease of miR-632 revealed an area of 0.89 [90% CI: 0.80-0.98]. Conclusions: Exosomal miR-204-5p and miR-632 have potential as diagnostic biomarkers for genetic FTD and miR-632 also for sporadic FTD.
The aim of the present review paper is to survey the literature related to DNA methylation, and its association with cancer and ageing. The review will outline the key factors, including diet, which modulate DNA methylation. Our rationale for conducting this review is that ageing and diseases, including cancer, are often accompanied by aberrant DNA methylation, a key epigenetic process, which is crucial to the regulation of gene expression. Significantly, it has been observed that with age and certain disease states, DNA methylation status can become disrupted. For instance, a broad array of cancers are associated with promoter-specific hypermethylation and concomitant gene silencing. This review highlights that hypermethylation, and gene silencing, of the EN1 gene promoter, a crucial homeobox gene, has been detected in various forms of cancer. This has led to this region being proposed as a potential biomarker for diseases such as cancer. We conclude the review by describing a recently developed novel electrochemical method that can be used to quantify the level of methylation within the EN1 promoter and emphasise the growing trend in the use of electrochemical techniques for the detection of aberrant DNA methylation.
This select document is an annotated translation of John Hampden Jackson’s 1937 Finnish-language text ‘Finland and Ireland: assorted comparisons’, an article previously unavailable in English. It represents an intriguing and extended instance of the generalised comparisons that were made between Irish and Finnish history by observers from the nineteenth century onwards. Therefore, as an example of a mid-twentieth-century primer of the two countries’ ‘parallel histories’, Hampden Jackson’s article is an excellent resource. Moreover, although Hampden Jackson had carved out a niche by the 1930s as an expert on Finland, his reflections on Ireland expose a rather patchy and superficial knowledge, and arguably a degree of condescension. Some of the value of translating this article is that it exposes attitudes of the (broadly-defined) British Left towards Ireland in the 1930s, and particularly the way these were presented, in comparisons with other countries, to an overseas audience.
The issue of what is ‘effective’ in therapeutic interventions with children and young people who have experienced maltreatment has attracted increasing professional interest since the 1980s. Currently, these interventions are subject to evaluative processes that privilege data collected from the adult experts, who design and deliver them. Measurements of effectiveness are predominantly based on a positivist paradigm, as indicated by the number of studies that use standardised measures to capture therapeutic success. An important concern is the neglect of children and young people's voices in the discussion of therapeutic efficacy.
This article presents the findings of a review of the literature, which revealed the continued privileging of adult ‘expert’ voices and the under-representation of the contributions from children and young people. However, when children and young people were engaged as active participants in evaluation processes, they were shown to demonstrate a depth of insight, which requires a reappraisal of adults as the only source of expertise in the effectiveness debate. The view that children and young people can be knowledge generators as well as active agents in their own healing is reflected by this article's proposals for future research partnerships with children and young people and changes to practice and policy development.