This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past.
Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes.
Retrospective and large-scale studies of radiographs from other research in past populations.
Retrospective and large-scale studies of radiographs from other research in past populations.
Documented cases of anencephaly were used to increase differential criteria of this rare disease.
Two skulls from a 20
-century documented medical collection at the Moscow State University diagnosed with anencephaly.
The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and X-ray analyses.
Metric values and morphological features differ between the two cases of anencephaly noted in the collection and the published data based on normal fetal and neonatal remains.
Analyses of medical collections helps to increase the number of diagnostic criteria for recognition and diagnosis of anencephaly in archaeological skeletons.
Improvement in the recognition of skeletal alterations associated with anencephaly is key towards improving our understanding of rare diseases in the past.
The fragility of skeletal elements of fetal and neonate individuals can complicate thorough analyses.
Continue to identify cases of anencephaly cases in medical collections and in archaeological contexts.
Continue to identify cases of anencephaly cases in medical collections and in archaeological contexts.IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (in males). So far only 17 individuals have been diagnosed molecularly with IMAGe syndrome, this patient is the first case of an individual diagnosed with IMAGe and concurrent rhabdomyosarcoma. The patient was born at 30 weeks' gestation and received treatment for hyponatremia and hyperkalemia. At 4 9/12 years of age the patient showed a painless, non-mobile mass on the left thigh. In the biopsy performed a sarcoma weave with solid, nest-like growth, with characteristics of rhabdomyosarcoma was identified. The family history and physical examination indicated IMAGe syndrome so genetic testing was requested. A whole exome sequencing procedure with use of SureSelectXT Human ALL Exon V7, confirmed a single nucleotide variant NM_000076.2(CDKN1C)c.820G>A (p.Asp274Asn); identifying a missense mutation in the imprinted gene CDKN1C associated with IMAGe syndrome. Although tumours associated with CDKN1C are rare, deregulation of imprinted genes is increasingly being recognised as a mechanism of tumorigenesis in cancer; chromosomal region 11p15.5 contains a cluster of imprinted genes. This same region is the most consistent site of allele loss in rhabdomyosarcoma and is the same region altered in both IMAGe and Beckwith-Wiedemann syndrome. Molecular studies have found genetic changes in the 11p15 region in a variety of embryonal tumours like Wilms tumours which are commonly developed in Beckwith-Wiedemann syndrome and embryonal rhabdomyosarcoma. Through this case we aim to present the possibility of oncogenesis in patients with IMAGe syndrome, specifically rhabdomyosarcoma.
Engagement of fathers to participate in pregnancy, birth and early postnatal care has significant advantages for women and infants as well as fathers. In Australia, guidelines for midwifery practice do not include specific recommendations about father-inclusive care, and models for publicly funded maternity care do not extend to the provision of care tailored specifically towards the needs of fathers. This study investigated the perceptions of midwives regarding their role in fathers' wellbeing, the extent of fathers' attendance at and participation in their services, advantages and disadvantages of father participation and barriers and enablers to father engagement.
Convergent mixed methods, cross-sectional.
A large metropolitan public maternity hospital that provides care to some of the most socio-economically disadvantaged suburbs and multi-cultural communities in Melbourne, Australia.
All midwives employed at the hospital (n=196) were invited to participate.
Anonymous online survey and semi-struing fathers for women and infants, we argue that maternity services should promote father engagement, for example by offering after hours appointment schedules, free antenatal and parenting education, and workshops to upskill midwifery staff. Education regarding the importance of father participation and skills for working with fathers should be included in the undergraduate preparation of midwives and other key maternity care professionals. Addressing the challenges of providing care to a multicultural community requires sensitive discussion with families from each of those cultures.
Traumatic births are considered as challenging events in the professional life of midwives. Trichostatin A Negative emotional and psychological consequences of these births on midwives are well-established. However, evidence suggests that in the aftermath of challenging events, such as birth traumas, positive outcomes may emerge as well. Based on the literature, shoulder dystocia (SD) is known as one of the most traumatic birth experiences for midwives. In this study we aimed to explore the impact of experiencing SD complicated births on clinical practice of midwives.
A qualitative descriptive study was undertaken. Midwives who had an experience of at least one case of SD were invited to the study through the Australian College of Midwives. In-depth interviews were conducted with 25 midwives. Data were analysed using an inductive thematic approach.
Three themes were identified 1) Putting on a brave face 2) Towards the growth zone 3) I am resilient enough to recover, because of …. Experience of SD was described as a dreadful event in midwives' career. However, on reflection, this experience was considered as a benefit which developed midwives' clinical expertise and contributed to their professional empowerment. Having faith in birth normality, support from workplace, seniority/ years of experience and self-confidence were among the factors which helped midwives in overcoming the stress after SD.
There needs to be greater awareness about the consequences of traumatic births such as SD for midwives. Collegial support has a critical role in helping midwives to have a positive outlook on their traumatic experience and to ease their pathway of professional growth.
There needs to be greater awareness about the consequences of traumatic births such as SD for midwives. Collegial support has a critical role in helping midwives to have a positive outlook on their traumatic experience and to ease their pathway of professional growth.Trichostatin A
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