Suchergebnisse

Cover -- Title -- Copyright -- Acknowledgements -- Dedication -- Contents -- Introduction -- 1 The Smirch Story -- 2 Creating your own Smirch -- 3 Starting your Smirch Journey -- 4 Essential Shrinking Tips -- 5 Thinking and Feeling -- 6 Smirch Shrinking Habits -- 7 Body Stuff -- 8 The Final Touches -- 9 The End -- 10 Contacts and Apps

Tells the story of three young children who spend a day with their grandparents after their grandfather has been diagnosed with dementia. This book is intended to support conversation at the time of first changes in a relative, a diagnosis of dementia and mild to moderate progression.

Contributed articles on relations between India and Britain in various spheres

Thomas Nelson Page, a native Virginian, was known for writing short stories which idealized the Old South. At first glance his short stories seamed to glorify the south; once one delves deeper, they see that Page criticized the one thing his books revolved around. This thesis analyzes the four parts of Page's short stories (religion, politics, economics, and social structure) to prove that even though Page has a deep love for the Old South, his short stories has embedded criticisms within them.

China has become an impactful science superpower, but it is asserted that its influence provides it with disproportionate benefits that some national research policies have not thus far appreciated. To create context, Web of Science data are used to analyse research collaborations between the UK and China: trends in volume of output between 1981 and 2019; citation impact; and comparative performance across research fields. UK–China collaboration increased from fewer than 100 co-authored papers before 1990, to 750 per year in 2000, 3,324 in 2010, and 16,267 papers (10.9 per cent of UK output) in 2019. UK–China collaboration is concentrated in technology-based fields: in some (e.g. telecommunication), over 30 per cent of UK papers are in collaboration with Chinese-based researchers. The paper discusses the policy consequences to the UK of this indicative dependency, arguing that exiting from such collaborations is ill advised, provided the risks, perceived or real, are mapped, managed, and mitigated.

Cross-cultural mental health services were assessed using qualitative interviews and focus groups of 43 mental health clinicians and program directors in one of the most ethnically integrated cities in the US. The commonly used strategy of ethnic matching between clinician and patient was found to be difficult to effectively apply to an ethnically diverse and highly integrated patient population. Information from cultural-competency training was also found to be difficult to apply, particularly due to time limitations and language barriers. Implementation of a cultural consultation service, which uses in-depth cultural evaluations and case-based learning, may help bridge these service gaps.

Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.