Teacher mental health and wellbeing is neglected in policy relative to student mental health and wellbeing. Yet there are ongoing concerns around teachers' stress levels and their impact on students ...and teacher shortages. Through a desk-based literature review relevant literature, current reports and statistics were examined to ascertain definitions and understandings of wellbeing and mental health suitable for teachers. The study then examined the importance of teacher mental health and wellbeing, rates and causes of teacher stress and burnout and factors that could support enhancing teacher mental health and wellbeing. Mental health and wellbeing are both complex concepts to define, but the current state of teacher mental health and wellbeing in Australia is of concern. There are protective factors that can support teachers' mental health and wellbeing, especially whole school approaches that embed the mental health and wellbeing of students, staff and community.
Epiphany in contemporary British poetry is perceived by some poets and critics, often those who self-identify as being outside of the mainstream, as a uniform, coercive, teleological, and ...unchallenging literary mode. This article intervenes in these debates to show how mainstream contemporary poetry, like its more experimental and avant-garde counterparts, also disrupts the traditional epiphanic paradigm. Through new critical readings of selected poems from Alice Oswald’s collection Woods etc. (2005), this article argues for a reframing that comprises epiphanies of ‘brightness’ and ‘unfixity’ and resists a teleological reading of this deep-rooted literary mode. It proposes that these poems offer a new way of thinking about epiphany as an ongoing process of revelation in contrast to the more familiar and well-established singular moment of insight.
Mutations in NOTCH1 Cause Adams-Oliver Syndrome Stittrich, Anna-Barbara; Lehman, Anna; Bodian, Dale L. ...
American journal of human genetics,
09/2014, Letnik:
95, Številka:
3
Journal Article
Recenzirano
Odprti dostop
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch ...signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5′ region and three coding variants (c.1285T>C p.Cys429Arg, c.4487G>A p.Cys1496Tyr, and c.5965G>A p.Asp1989Asn), two of which are de novo, in four unrelated probands. In a fifth family, we identified a heterozygous canonical splice-site variant (c.743−1 G>T) in an affected father and daughter. These variants were not present in 5,077 in-house control genomes or in public databases. In keeping with the prominent developmental role described for Notch1 in mouse vasculature, we observed cardiac and multiple vascular defects in four of the five families. We propose that the limb and scalp defects might also be due to a vasculopathy in NOTCH1-related AOS. Our results suggest that mutations in NOTCH1 are the most common cause of AOS and add to a growing list of human diseases that have a vascular and/or bony component and are caused by alterations in the Notch signaling pathway.
Background
Qualitative olfactory disorders in the form of parosmia and phantosmia are very subjective and cannot be measured at present. They pose an unpleasant experience for patients and a ...therapeutic challenge for clinicians.
Objective
This study aimed to characterise the specific experiences of patients affected by the qualitative symptoms of parosmia and phantosmia including both triggers for symptoms and self-help measures they have tried.
Methods
A cross-sectional survey questionnaire was developed with the input of patient experts within the charity Fifth Sense. The survey was then open online for 3 months to charity members complaining of qualitative symptoms. The survey captured the frequency and impact of symptoms and self-management undertaken. Reflective feedback was also captured from a patient workshop.
Results
There were 100 participants; 61% female, age range 13-88. Common self-reported aetiology included sinonasal disease (17%), idiopathic (33%) and post-viral olfactory loss (26%) and post-traumatic olfactory loss (23%). Parosmia was reported as a daily symptom in 67% compared to 31% for phantosmia; 36% complained of suffering with both symptoms. Only 4% of respondents reported having received any successful treatment for their qualitative symptoms and 58% reported having received no treatment whatsoever. Olfactory training was the most common self-management method reported.
Conclusion
This study illustrates that qualitative disturbances remain problematic for those who experience them due to the duration of symptoms, the relative lack of experience or knowledge amongst medical professionals and the lack of therapeutic options. In future, consideration needs to be given to adaptation and coping strategies to help patients deal with these symptoms.
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases ...in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
Both nuclear and mitochondrial DNA mutations can cause energy generation disorders. Respiratory chain complex I deficiency is the most common energy generation disorder and a frequent cause of ...infantile mitochondrial encephalopathies such as Leigh's disease and lethal infantile mitochondrial disease. Most such cases have been assumed to be caused by nuclear gene defects, but recently an increasing number have been shown to be caused by mutations in the mitochondrially encoded complex I subunit genes ND4, ND5, and ND6. We report the first four cases of infantile mitochondrial encephalopathies caused by mutations in the ND3 subunit gene. Three unrelated children have the same novel heteroplasmic mutation (T10158C), only the second mutation reported in ND3, and one has the previously identified T10191C mutation. Both mutations cause disproportionately greater reductions in enzyme activity than in the amount of fully assembled complex I, suggesting the ND3 subunit plays an unknown but important role in electron transport, proton pumping, or ubiquinone binding. Three cases appear to have a de novo mutation, with no mutation detected in maternal relatives. Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency.
A female patient with consanguineous parents presented at the age of 4 with isolated hypoparathyroidism due to a parathyroid hormone (PTH) gene mutation. She was managed with alfacalcidol and calcium ...supplements, and developed normally. Her consanguineous parents described symptoms suggestive of hypocalcaemia but had normal serum calcium and low normal PTH levels. A molecular diagnosis obtained in her adulthood revealed the presence of homozygous point mutation (c.68C>A) in exon 2 introducing a premature stop codon resulting in a non-functional precursor protein. This mutation has been reported only once before. Our patient remained on stable doses of alfacalcidol during pregnancy, but stopped all supplementation while breast feeding. This case confirms that alternative mechanisms (likely breast-derived parathyroid hormone-related protein) contribute to calcium homeostasis during breast feeding. Heterozygotes for the c.68C>A mutation may have latent hypoparathyroidism and maintain calcium homeostasis except during prolonged hypocalcaemia. This would suggest incomplete dominance, or a dose effect of the wild-type PTH allele.
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