scholarly journals Mucopolysaccharidosis and Adulthood: Genetics, Inheritance, and Reproductive Options

2018 ◽  
Vol 08 (01) ◽  
pp. e138-e143 ◽  
Author(s):  
Alison Wilson ◽  
Christine Lavery ◽  
Fiona Stewart ◽  
Sophie Thomas ◽  
Deborah Cavell ◽  
...  
Keyword(s):  
Lysosomal Enzymes ◽  
Clinical Manifestations ◽  
Biochemical Basis ◽  
Pediatric Clinic ◽  
The Face ◽  
The Uk ◽  
New Treatments ◽  
Result Management ◽  
First Time ◽  
Experiences Of Women

AbstractThe mucopolysaccharide diseases are a group of heterogeneous, inherited conditions that are characterized by the deficiency of specific lysosomal enzymes. These lysosomal enzymes are responsible for the breakdown of glycosaminoglycans (GAGs), which are a key component of connective tissue. When lysosomal enzymes are deficient, the resultant build-up of GAGs impacts on cellular functioning. The resultant clinical manifestations are multisystemic, progressive, and life-limiting. Although each condition is characterized by its own constellation of symptoms; there is a great deal of heterogeneity and overlap in the clinical manifestations (both within and between mucopolysaccharidosis [MPS] subtypes). Increasing understanding of the genetic and biochemical basis of the MPS diseases has paved the way for a wave of exciting developments in their treatment and management. New treatments have changed the face of many of the MPS diseases; and as a result, management has moved beyond the pediatric clinic into the adult clinic. For the first time, individuals with MPS are living into adulthood with fewer limitations than the natural course of their disease would predict. It is essential that in this new age of MPS disease management, early diagnosis achieved and those at risk of having a child affected by one of these conditions are appropriately counseled in relation to their reproductive options. It is also important that individuals with MPS are counseled independently, at an appropriate age (or when they have capacity) about the basis of their disease and what this means for them. Here we discuss the diagnosis and inheritance of the MPS conditions; specifically focusing on genetic counseling requirements. We also discuss the outcomes of a research study, undertaken by the UK Mucopolysaccharide Disease Society, into the experiences of women with MPS who have had successful pregnancies.

Generalized eruptive keratoacanthomas of Grzybowski (case report)

2021 ◽  
Author(s):  
И.А. Куклин ◽  
Н.П. Малишевская ◽  
М.М. Кохан ◽  
Г.Д. Сафонова ◽  
О.Г. Римар ◽  
...  
Keyword(s):  
Clinical Care ◽  
Clinical Manifestations ◽  
Review Of The Literature ◽  
Trunk Limbs ◽  
The Face ◽  
Spontaneous Involution ◽  
Atrophic Scars ◽  
Short Time ◽  
First Time ◽  
Aromatic Retinoids

В статье представлен краткий обзор литературы о клинических проявлениях, современных методах диагностики и лечения чрезвычайно редкого заболевания – множественной эруптивной кератоакантомы типа Гржебовски. Заболевание характеризуется возникновением сотен или тысяч генерализованных зудящих узелков на коже лица, туловища, конечностей, половых органов, слизистой полости рта и гортани в течение короткого времени. Заболевание развивается в возрасте старше 40 лет, имеет рецидивирующее течение, возможна спонтанная инволюция отдельных элементов с формированием участков депигментации или атрофических рубцов. Авторы приводят случай собственного клинического наблюдения множественной эруптивной кератоакантомы типа Гржебовски у пациента 50 лет, который обратился на консультацию к дерматовенерологу в клинику Уральского НИИ дерматовенерологии и иммунопатологии. Длительность болезни на момент обращения составляла 2,5 года, ее возникновению предшествовало неоднократное посещение больным стран с избыточной инсоляцией, что может рассматриваться в качестве этиологического фактора развития заболевания. Диагноз впервые был заподозрен на консилиуме дерматовенерологов на основании клинической картины заболевания и в дальнейшем верифицирован данными патоморфологического исследования биоптата пораженной кожи. Показана эффективность применения ароматических ретиноидов в лечении множественной эруптивной кератоакантомы типа Гржебовски и приведены побочные эффекты, которые развились у больного при самостоятельном увеличении дозы ацитретина до 70 мг/сутки. В статье констатируется чрезвычайно редкая встречаемость данного заболевания, о чем свидетельствует приведенный клинический случай, диагностируемый впервые более чем за 90-летнюю историю существования института. Подчеркивается важность консолидации клинического опыта нескольких ведущих дерматовенерологов для диагностики множественной эруптивной кератоакантомы типа Гржебовски. The article presents a brief review of the literature about clinical manifestations, modern methods of diagnosticsand treatment of an extremely rare disease – generalized eruptive keratoacanthomas of Grzybowski. The disease is characterized by the appearance of hundreds or thousands of generalized itchy nodules on the skin of the face, trunk, limbs, genitals, oral mucosa and larynx within a short time. The disease develops at the age of over 40, has a recurrent course, spontaneous involution of individual elements with the formation of areas of depigmentation or atrophic scars is possible. The authors describe a case of their own clinical care of generalized eruptive keratoacanthomas of Grzybowski in a 50-year-old patient who consulted a dermatovenerologist at the clinic of the Ural Research Institute of Dermatovenerology and Immunopathology.The duration of the disease at the time of visit to a doctor was 2,5 years, its occurrence was preceded by repeated visits to countries with excessive insolation, which can be considered as an etiological factor in the development of the disease. The diagnosis was first suspected at a boarddermatovenerologists based on the clinical picture of the disease and subsequently verified by the data of a pathomorphological examination of the biopsy of the affected skin.The effectiveness of the use of aromatic retinoids in the treatment of generalized eruptive keratoacanthomas of Grzybowski is shown and the side effects that developed in the patient with an independent increase in the dose of acitretin to 70 mg/day are given. The article states the extremely rare occurrence of this disease, as evidenced by the above clinical case, diagnosed for the first time in more than 90 years of the institute's existence. The importance of consolidating the clinical experience of several leading dermatovenerologists for the diagnostics of generalized eruptive keratoacanthomas of Grzybowski is emphasized.

scholarly journals A Comparative Study of Absolute Liability Offense in Iran and the UK

2016 ◽  
Vol 12 (3) ◽  
pp. 135
Author(s):  
Seyed Mohammad Mousavi ◽  
Arash Babaei ◽  
Shamsollah Khatami ◽  
Yousef Jafarzadi
Keyword(s):  
Comparative Study ◽  
Criminal Law ◽  
Common Law ◽  
Objective Measure ◽  
Legal Texts ◽  
The Face ◽  
The Common ◽  
The Law ◽  
The Uk ◽  
First Time

<p>One characteristic of the force of law in the country, the integrity of the rules in all areas of all aspects of creation into account the distinction between crime and the crime and failed or incomplete in acts of crime and crime as the withdrawal. In this respect the rules on penalties culpability in the crime has been proposed that the content of the crime with absolute responsibility of these categories has manifested. Under the Articles 144 and 145 of the Latest version Islamic criminal law (2013), Create unintentional offenses, subject to verification of the fault committed. In crimes ranging from quasi-intentional unintentional deviation as retaliation book rules apply. Legislator to commit a fault, the reason for the error is considered criminal, which has always been considered an objective measure and a ruler (in Article 145), while the common law under subsection (1) "criminal law to crimes" adopted 1981 crime start as the offense is punishable total. This study showed that certain similarities between the laws. In this context, the two internal laws and the common law can be found, in which the underlying offense of absolute liability is not fixed in the courts. Always treat judges and lawyers in the face of legal texts are not consistent because of the lack of transparency and clarity of the rules. In particular, in the common law, when a crime for the first time in cour t, and a warrant has been issued about it in terms of predicting the law and with regard to the interpretation of judges, procedural difference is more tangible.</p>

Hatching behaviour of Nematodirus filicollis in a flock co-infected with Nematodirus battus

Parasitology ◽  
2009 ◽  
Vol 136 (7) ◽  
pp. 805-811 ◽  
Author(s):  
J. VAN DIJK ◽  
E. R. MORGAN
Keyword(s):  
Threshold Temperature ◽  
Sheep Grazing ◽  
Disease Patterns ◽  
Wide Geographical Distribution ◽  
Third Stage ◽  
The Face ◽  
Strict Requirement ◽  
The Uk ◽  
First Time ◽  
Rapid Emergence

SUMMARYThe development and survival of larvae of Nematodirus filicollis, an important nematode parasite of ruminants, were extensively investigated in the laboratory for the first time, using eggs harvested from sheep grazing in the UK in winter. Third-stage larvae (L3s) developed within the eggs between 12 and 25°C, with the proportion of eggs developing successfully being highest at the upper end of this range. Eggs required chilling below 10°C before being able to hatch at all, and maximum hatch was observed only following chilling to 4°C. Hatching occurred above 6°C, and peaked at 13°C, with the proportion of eggs hatching decreasing to 17–20°C, which appears to form an upper threshold temperature for hatching. When fully developed eggs were placed at 11–13°C, L3 emerged very rapidly with hatching being completed within 6 days. Mortality of emerged L3s increased with temperature, particularly above 20°C. For this parasite, given the low minimum hatching thresholds and the rapid emergence of L3, the existence of an upper hatching threshold is likely to have limited impact on patterns of larval availability on pasture. The strict requirement for chilling is surprising, being at odds with both previous observations and the wide geographical distribution of this species. It is possible that the proportion of eggs requiring chilling is an adaptable trait, enabling early infection of naïve hosts in the face of competition from N. battus, yet also persistence in regions that do not provide good conditions for the chilling of eggs. Further study of selectable variation in this trait could help us to understand the contrasting geographical ranges and disease patterns within the genus, and how different species might respond to climate change.

11. The Welsh Way/Y Ffordd Gymreig

2019 ◽  
pp. 296-322
Author(s):  
Richard Rawlings
Keyword(s):  
Central Government ◽  
European Convention ◽  
Executive Power ◽  
Constitutional Development ◽  
The United Kingdom ◽  
The Face ◽  
The Uk ◽  
Independent Commission ◽  
First Time ◽  
Deal Making

Welsh constitutional development in recent times is characterized by a convoluted and ongoing set of legislative transformations and by the emergence of a distinct policy approach not only for the sub-state polity itself but also under the banner of a ‘new Union’ for the United Kingdom as a whole. Examination of the design and dynamics of the Wales Act 2017 serves to illuminate the difficulties and rewards of the territorial constitutional journey, especially in terms of central government conservatism in the face of principled argument and of the scope afforded for home-grown democratic renewal. In terms of the extended Brexit process, where competing conceptions of the UK territorial constitution are brought to the fore, the Welsh Labour Government is seen combatting potentials for centralization under the rubric of a ‘UK internal market’, deal-making in the name of mutual benefit, and championing a new brand of shared governance in the UK. Today, the workings of the justice system in Wales are being examined on their own for the first time in two centuries by an independent commission established by the Welsh Government. With a new stage in the Welsh constitutional journey in prospect, a series of foundational questions is raised. This chapter reviews the key elements of the arrangements made for devolving legislative and executive power to Scotland, Wales, and Northern Ireland, explaining how these arrangements have developed over time and are still doing so. Particular attention is paid to the implications of the result of the independence referendum in Scotland in September 2014, not just for Scotland but also for England. Consideration is given to how mechanisms for making devolution work more effectively might be devised and to what the effects might be on devolution if the UK’s membership of the EU or its commitment to the European Convention on Human Rights are seriously called into question.

Making a Right Tit of Myself: Subverting the Trajectory of Mastectomy: Soma, Psyche, Techné

Somatechnics ◽  
2013 ◽  
Vol 3 (1) ◽  
pp. 9-30
Author(s):  
Fiona K. O'Neill
Keyword(s):  
Breast Cancer ◽  
Cancer Survivors ◽  
Breast Cancer Survivors ◽  
Personal Narrative ◽  
Abrupt Transition ◽  
The Face ◽  
Rapid Transition ◽  
Return Journey ◽  
The Uk

In the UK, when one is suspected of having breast cancer there is usually a rapid transition from being diagnosed, to being told you require treatment, to this being effected. Hence, there is a sense of an abrupt transition from ‘normal’ embodiment through somatechnic engagement; from normality, to failure and otherness. The return journey to ‘embodied normality’, if indeed there can be one, is the focus of this paper; specifically the durée and trajectory of such normalisation. I offer a personal narrative from encountering these ‘normalising interventions’, supported by the narratives of other ‘breast cancer survivors’. Indeed, I havechosento become acquainted with my altered/novel embodiment, rather than the symmetrisation of prosthetication, to ‘wear my scars’,and thus subvert the trajectory of mastectomy. I broach and brook various encounters with failure by having, being and doing a body otherwise; exploring, mastering and re-capacitating my embodiment, finding the virtuosity of failure and subversion. To challenge the durée of ‘normalisation’ I have engaged in somatic movement practices which allow actual capacities of embodiment to be realised; thorough kinaesthetic praxis and expression. This paper asks is it soma, psyche or techné that has failed me, or have I failed them? What mimetic chimera ‘should’ I become? What choices do we have in the face of failure? What subversions can be allowed? How subtle must one be? What referent shall I choose? What might one assimilate? Will mimesis get me in the end? What capacities can one find? How shall I belong? Where / wear is my fidelity? The hope here is to address the intra-personal phenomenological character and the inter-corporeal socio-ethico-political aspects that this body of failure engenders, as one amongst many.

Healthcare and Terrorism: The Lebanese Experience

2021 ◽  
pp. 1-4
Author(s):  
Nooreddine Iskandar ◽  
Tatiana Rahbany ◽  
Ali Shokor
Keyword(s):  
Public Health ◽  
Qualitative Study ◽  
Thematic Analysis ◽  
Terrorist Attacks ◽  
Analysis Method ◽  
Structured Interviews ◽  
Security Issues ◽  
The Face ◽  
The Common ◽  
First Time

Abstract Background: Due to the common instability caused by political and security issues, Lebanese hospitals have experienced acts of terrorism multiple times. The most recent Beirut Explosion even forced several hospitals to cease operations for the first time in decades—but studies show the preparedness levels for such attacks in similar countries are low. Objective: The aim of this study is to explore the experience of Lebanese hospitals with terrorist attacks. Methods: This qualitative study used semi-structured interviews with various stakeholders to assess their experience with terrorist bombings. Data was analyzed using the thematic analysis method. Results: The researchers found that Lebanese hospitals vary greatly in their structures and procedures. Those differences are a function of 3 contextual factors: location, culture, and accreditation status. Hospitals found near ‘dangerous zones’ were more likely to be aware and to have better response to such events. A severe lack of communication, unity of command, and collaboration between stakeholders has made the process fragmented. Conclusion: The researchers recommend a larger role for the Ministry of Public Health (MOPH) in this process, and the creation of a platform where Lebanese organizations can share their experiences to improve preparedness and resilience of the Lebanese healthcare system in the face of terrorism.

scholarly journals Expression of BARD1 β Isoform in Selected Pediatric Tumors

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 168
Author(s):  
Anna Jasiak ◽  
Natalia Krawczyńska ◽  
Mariola Iliszko ◽  
Katarzyna Czarnota ◽  
Kamil Buczkowski ◽  
...  
Keyword(s):  
Pediatric Cancer ◽  
Genome Stability ◽  
Cell Cycle Control ◽  
Reverse Transcriptase Gene ◽  
Neoplastic Tissue ◽  
Adult Type ◽  
Qpcr Method ◽  
New Treatments ◽  
First Time ◽  
Work Supports

Currently, many new possible biomarkers and mechanisms are being searched and tested to analyse pathobiology of pediatric tumours for the development of new treatments. One such candidate molecular factor is BARD1 (BRCA1 Associated RING Domain 1)—a tumour-suppressing gene involved in cell cycle control and genome stability, engaged in several types of adult-type tumours. The data on BARD1 significance in childhood cancer is limited. This study determines the expression level of BARD1 and its isoform beta (β) in three different histogenetic groups of pediatric cancer—neuroblastic tumours, and for the first time in chosen germ cell tumours (GCT), and rhabdomyosarcoma (RMS), using the qPCR method. We found higher expression of beta isoform in tumour compared to healthy tissue with no such changes concerning BARD1 full-length. Additionally, differences in expression of BARD1 β between histological types of neuroblastic tumours were observed, with higher levels in ganglioneuroblastoma and ganglioneuroma. Furthermore, a higher expression of BARD1 β characterized yolk sac tumours (GCT type) and RMS when comparing with non-neoplastic tissue. These tumours also showed a high expression of the TERT (Telomerase Reverse Transcriptase) gene. In two RMS cases we found deep decrease of BARD1 β in post-chemotherapy samples. This work supports the oncogenicity of the beta isoform in pediatric tumours, as well as demonstrates the differences in its expression depending on the histological type of neoplasm, and the level of maturation in neuroblastic tumours.

To bee or not to beet with neonicotinoids

2021 ◽  
Vol 23 (2) ◽  
pp. 103-109
Author(s):  
Lynda M. Warren
Keyword(s):  
Sugar Beet ◽  
Weather Conditions ◽  
The European Union ◽  
Environmental Standards ◽  
Economic Interests ◽  
Precautionary Approach ◽  
The United Kingdom ◽  
Commercial Sugar ◽  
The Uk ◽  
First Time

In January 2021 the UK government granted an application for authorisation to use thiamethoxam, a neonicotinoid pesticide, to protect commercial sugar beet crops from attack by viruses transmitted by aphids. This was the first time such an authorisation had been granted in the United Kingdom (UK) and there were concerns that it signalled a weakening of environmental standards now that the UK was no longer part of the European Union. In fact, similar authorisations had been granted by several European Member States in the last 2 years, despite the ban on the use of neonicotinoids introduced in 2018. Nevertheless, the reasons for granting the authorisation do suggest that the balance between adopting a precautionary approach to environmental protection and taking emergency action to protect economic interests may have shifted. It was acknowledged that the proposed mitigation to safeguard bees and other wildlife was not entirely satisfactory. In the end, due to unforeseen weather conditions it meant that the pesticide is not necessary, which in itself demonstrates that short-term emergency measures are unsuitable for dealing with the problem. If the sugar beet industry is to continue to prosper in the UK, it will need to be managed in a way that provides resistance to virus infection without the use of controversial chemicals.

scholarly journals Assessment of the Wearability of Facemasks against Air Pollution in Primary School-Aged Children in London

2020 ◽  
Vol 17 (11) ◽  
pp. 3935 ◽  
Author(s):  
Naomi R Smart ◽  
Claire J Horwell ◽  
Trevor S Smart ◽  
Karen S Galea
Keyword(s):  
Air Pollution ◽  
Primary School ◽  
Primary School Children ◽  
Perceived Fit ◽  
Major Health Problem ◽  
Airborne Pollutants ◽  
Main Complaint ◽  
Running Activity ◽  
The Face ◽  
The Uk

Air pollution is a major health problem and children are particularly vulnerable to the adverse effects. Facemasks are one form of protection but, to be effective, they need to filter out airborne pollutants, fit the face well and be wearable. In this pilot study, we assess the perceived wearability of three facemasks (Vogmask, TuHao and ReSpimask) marketed in the UK as being designed to protect children against exposure to air pollution. Twenty-four primary school children wore each facemask during a standardised walking and running activity. After each activity, the children were asked to rate facemask wearability in terms of parameters, such as perceived comfort, hotness, breathability and fit. At the end of the trial, the children compared and identified their preferred facemask. The main complaint about the facemasks was the children’s faces being too hot. The ReSpimask was most frequently reported as being perceived to be the hardest to breathe through. The TuHao facemask was the only adjustable strap mask assessed but was reported to be difficult to adjust. Facemasks with a nose clip were frequently rated highest for fit (TuHao and Vogmask). The patterned, cloth fabric Vogmask had significantly higher ratings for appearance and perceived fit. The results show children’s perceptions of facemasks are highly affected by the facemask’s design, hotness and perceived breathability. By making children’s facemasks more appealing, breathable, cooler and improving their fit, wearability may be improved.

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