scholarly journals COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome

2021 ◽  
pp. 1-3
Author(s):  
Setareh Alabaf ◽  
Karen O'Connell ◽  
Sithara Ramdas ◽  
David Beeson ◽  
Jacqueline Palace
Keyword(s):  
High Risk ◽  
Neuromuscular Transmission ◽  
Genetic Disorders ◽  
Severe Disease ◽  
Congenital Myasthenic Syndrome ◽  
Referral Centre ◽  
History Of ◽  
Myasthenic Syndrome ◽  
The Uk ◽  
Rare Group

Congenital Myasthenic Syndrome (CMS) are a rare group of genetic disorders of neuromuscular transmission. Some subtypes of CMS can be associated with respiratory and bulbar weakness and these patients may therefore be at high risk of developing a severe disease from COVID-19. We screened 73 patients with genetically confirmed CMS who were attending the UK national referral centre for evidence of previous Severe Acute Respiratory Syndrome Corona Virus 2 infection and their clinical outcome. Of 73 patients, seven had history of confirmed COVID-19. None of the infected patients developed a severe disease, and there were no signals that CMS alone carries a high risk of severe disease from COVID-19.

scholarly journals Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders

2019 ◽  
Vol 47 (3) ◽  
pp. 1169-1178 ◽  
Author(s):  
Rui Zhang ◽  
Xiangbin Chen ◽  
Dong Wang ◽  
Xuan Chen ◽  
Chao Wang ◽  
...  
Keyword(s):  
High Risk ◽  
Copy Number ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Advanced Maternal Age ◽  
Spontaneous Abortions ◽  
Congenital Disease ◽  
Number Variation ◽  
History Of

Objective High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities including aneuploidy. This study provides evidence for the prevalence of chromosomal abnormalities in target populations. Methods A total of 160 samples, including 83 high-risk pregnancies, 37 spontaneous abortions, and 40 suspected genetic disorders, were analyzed by CNV-seq. Relationships between the incidence of these chromosomal abnormalities and risk factors (e.g. advanced maternal age, abnormal pregnancy history, and family history of congenital disease) were further analyzed by subgroup. Results A total of 37 (44.6%) high-risk pregnancies, 25 (67.6%) spontaneous abortions, and 22 (55%) suspected genetic disorders had chromosomal abnormalities including aneuploidy and CNVs. There was an increased risk association between the prevalence of aneuploidy and pathogenic-relevant CNV in the fetus or abortive tissue and advanced maternal age. Moreover, a family history of congenital disease was also positively correlated with fetal chromosomal abnormalities in high-risk pregnancies. Conclusion A relatively high prevalence of chromosomal abnormalities was detected in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders, indicating the importance of CNV detection in such populations.

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features

2021 ◽  
pp. 088307382098775
Author(s):  
Devin E. Prior ◽  
Partha S. Ghosh
Keyword(s):  
Genetic Variants ◽  
Chart Review ◽  
Genetic Disorders ◽  
Retrospective Chart Review ◽  
Congenital Myasthenic Syndrome ◽  
Significant Delay ◽  
Prompt Treatment ◽  
Novel Variants ◽  
Myasthenic Syndrome

Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therapies. Methods: We identified 18 patients with congenital myasthenic syndrome from a pediatric neuromuscular center over a decade. Through a retrospective chart review, we characterize demographic profile, clinical features, genetic variants, treatment, and follow-up of these patients. Results: Patients had the following genetic subtypes: CHRNE (6), CHAT (2), MUSK (2), DOK7 (2), COLQ (1), RAPSN (1), PREPL (1), GFPT1 (1), CHRBB1 (1), and CHRNA1 (1). The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, bulbar, and extremity muscles. There was a significant delay in the diagnosis of this condition from the onset of symptoms. Although most patients improved with pyridostigmine, some subtypes showed worsening with pyridostigmine and others benefited from albuterol, ephedrine, or 3,4-diaminopyridine treatment. Conclusion: Increasing recognition of this rare syndrome will lead to early diagnosis and prompt treatment. Prompt utilization of genetic testing will identify novel variants and the expanding phenotype of this condition.

scholarly journals Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

2017 ◽  
Vol 173 (8) ◽  
pp. 2240-2245 ◽  
Author(s):  
Ricardo A. Maselli ◽  
Juan Arredondo ◽  
Jessica Vázquez ◽  
Jessica X. Chong ◽  
Michael J. Bamshad ◽  
...  
Keyword(s):  
Neuromuscular Transmission ◽  
Congenital Myasthenic Syndrome ◽  
Sequence Variant ◽  
Myasthenic Syndrome

scholarly journals Rapid quality improvement in a preterm birth clinic care pathway during the COVID-19 pandemic

2020 ◽  
Vol 9 (4) ◽  
pp. e001049
Author(s):  
Sara Zarasvand ◽  
Erna Bayar ◽  
Malko Adan ◽  
Katherine Mountain ◽  
Holly Lewis ◽  
...  
Keyword(s):  
Quality Improvement ◽  
Preterm Birth ◽  
High Risk ◽  
Care Pathway ◽  
Clinical Pathways ◽  
Transvaginal Ultrasound ◽  
Cervical Length ◽  
Short Cervix ◽  
History Of ◽  
The Uk

BackgroundPreterm birth (PTB) occurs in 8% of births in the UK. At Imperial College Healthcare NHS Trust, our PTB prevention clinic manages the care of approximately 1000 women/year. Women referred to the clinic are seen from 12 weeks of pregnancy with subsequent appointments every 2–4 weeks to measure cervical length (CL) using transvaginal ultrasound (TVUS). Women with a history of cervical weakness or short cervix on TVUS are offered a cervical cerclage.Local problemDuring the COVID-19 outbreak, pregnant women were strongly advised to avoid social mixing and public transport. The National Health Service had to rapidly adopt remote consultation and redesign clinical pathways in order to reduce transmission, exposure and spread among women at high risk of PTB.MethodsWe focused on Specific, Measurable, Achievable, Realistic and Timebound aims and used a driver diagram to visualise our changes. We used a series of Plan Do Study Act cycles to evaluate and adapt change ideas through the UK’s national lockdown during the COVID-19 pandemic between 23 March and 29 May 2020.ResultsWe reduced the number of face-to-face appointments by 54%. This was achieved by increasing remote telephone consultations from 0% to 64%, and by reducing the intensity of surveillance. The rate of regional anaesthetic was increased from 53% to 95% for cerclage placement in order to minimise the number of aerosol-generating procedures. Patient and staff satisfaction responses to these changes were used to tailor practices. No women tested positive for COVID-19 during the study period.ConclusionsBy using quality improvement methodology, we were able to safely and rapidly implement a new care pathway for women at high risk of PTB which was acceptable to patients and staff, and effective in reducing exposure of COVID-19.

The Film World’s Cooperative Store: Institutions and Films of the 1930s and 1940s

2018 ◽  
Author(s):  
C. Claire Thomson
Keyword(s):  
World War Ii ◽  
Meat Products ◽  
Public Information ◽  
Early History ◽  
World War ◽  
International Context ◽  
German Occupation ◽  
History Of ◽  
The Uk ◽  
The Impact

This chapter traces the early history of state-sponsored informational filmmaking in Denmark, emphasising its organisation as a ‘cooperative’ of organisations and government agencies. After an account of the establishment and early development of the agency Dansk Kulturfilm in the 1930s, the chapter considers two of its earliest productions, both process films documenting the manufacture of bricks and meat products. The broader context of documentary in Denmark is fleshed out with an account of the production and reception of Poul Henningsen’s seminal film Danmark (1935), and the international context is accounted for with an overview of the development of state-supported filmmaking in the UK, Italy and Germany. Developments in the funding and output of Dansk Kulturfilm up to World War II are outlined, followed by an account of the impact of the German Occupation of Denmark on domestic informational film. The establishment of the Danish Government Film Committee or Ministeriernes Filmudvalg kick-started aprofessionalisation of state-sponsored filmmaking, and two wartime public information films are briefly analysed as examples of its early output. The chapter concludes with an account of the relations between the Danish Resistance and an emerging generation of documentarists.

THE RISK FACTORS OF MOLAR PREGNANCY

2017 ◽  
pp. 53-58
Author(s):  
Lam Huong Le
Keyword(s):  
High Risk ◽  
Gestational Trophoblastic Disease ◽  
Living Standard ◽  
Control Group ◽  
Uterine Perforation ◽  
Molar Pregnancy ◽  
Health It ◽  
Pregnancy Risk ◽  
History Of ◽  
And Control

Objectives: Molar pregnancy is the gestational trophoblastic disease and impact on the women’s health. It has several complications such as toxicity, infection, bleeding. Molar pregnancy also has high risk of choriocarcinoma which can be dead. Aim: To assess the risks of molar pregnancy. Materials and Methods: The case control study included 76 molar pregnancies and 228 pregnancies in control group at Hue Central Hospital. Results: The average age was 32.7 ± 6.7, the miximum age was 17 years old and the maximum was 46 years old. The history of abortion, miscarriage in molar group and control group acounted for 10.5% and 3.9% respectively, with the risk was higher 2.8 times; 95% CI = 1.1-7.7 (p<0.05). The history of molar pregnancy in molar pregnancy group was 9.2% and the molar pregnancy risk was 11.4 times higher than control group (95% CI = 2.3-56.4). The women having ≥ 4 times births accounted for 7.9% in molar group and 2.2% in control group, with the risk was higher 3.8 times, 95% CI= 1.1-12.9 (p<0.05). The molar risk of women < 20 and >40 years old in molar groups had 2.4 times higher than (95% CI = 1.1 to 5.2)h than control group. Low living standard was 7.9% in molar group and 1.3% in the control group with OR= 6.2; 95% CI= 1.5-25.6. Curettage twice accounted for 87.5%, there were 16 case need to curettage three times. There was no case of uterine perforation and infection after curettage. Conclusion: The high risk molar pregnancy women need a better management. Pregnant women should be antenatal cared regularly to dectect early molar pregnancy. It is nessecery to monitor and avoid the dangerous complications occuring during the pregnancy. Key words: Molar pregnancy, pregnancy women

Corticosteroids in Inflammatory Bowel Disease patients: a practical guide for physicians.

2020 ◽  
Vol 15 ◽  
Author(s):  
Maria Carla Di Paolo ◽  
Cristiano Pagnini ◽  
Maria Giovanna Graziani
Keyword(s):  
Severe Disease ◽  
Unknown Etiology ◽  
History Of Disease ◽  
Bowel Diseases ◽  
Literature Evidence ◽  
History Of ◽  
Inflammatory Bowel ◽  
Favorable Safety ◽  
Pass Metabolism

: Inflammatory bowel diseases (IBDs) are chronic conditions characterized by unknown etiology and pathogenesis with deregulation of mucosal immunity. Among possible treatments, corticosteroids, already available from the 50’, are still the mainstay of treatment for moderate-severe disease. Nonetheless, the use of steroids is still largely empirical and solid evidence about therapeutic schemes are lacking. Moreover, due to the important side-effects and for the unsatisfactory impact on long-term natural history of disease, the steroid sparing has become an important therapeutic goal in IBD management. Besides conventional steroids, the so called “low bioavailability” steroids, which are steroids with high affinity for peripheral receptors and elevated hepatic first-pass metabolism, have demonstrated efficacy and more favorable safety profile. In the present review of the literature evidence of efficacy and safety of conventional and low bioavailability steroids in IBD patients are evaluated, and practical suggestions for a correct use in clinical practice are presented according to the current clinical guidelines.

Personalized stratification of back to work risk amidst COVID-19: A machine learning approach (Preprint)

2020 ◽  
Author(s):  
Carson Lam ◽  
Jacob Calvert ◽  
Gina Barnes ◽  
Emily Pellegrini ◽  
Anna Lynn-Palevsky ◽  
...  
Keyword(s):  
Machine Learning ◽  
High Risk ◽  
Learning Algorithm ◽  
Severe Disease ◽  
High Specificity ◽  
Population Level ◽  
The United States ◽  
Health Condition ◽  
Available P ◽  
Severe Illness

BACKGROUND In the wake of COVID-19, the United States has developed a three stage plan to outline the parameters to determine when states may reopen businesses and ease travel restrictions. The guidelines also identify subpopulations of Americans that should continue to stay at home due to being at high risk for severe disease should they contract COVID-19. These guidelines were based on population level demographics, rather than individual-level risk factors. As such, they may misidentify individuals at high risk for severe illness and who should therefore not return to work until vaccination or widespread serological testing is available. OBJECTIVE This study evaluated a machine learning algorithm for the prediction of serious illness due to COVID-19 using inpatient data collected from electronic health records. METHODS The algorithm was trained to identify patients for whom a diagnosis of COVID-19 was likely to result in hospitalization, and compared against four U.S policy-based criteria: age over 65, having a serious underlying health condition, age over 65 or having a serious underlying health condition, and age over 65 and having a serious underlying health condition. RESULTS This algorithm identified 80% of patients at risk for hospitalization due to COVID-19, versus at most 62% that are identified by government guidelines. The algorithm also achieved a high specificity of 95%, outperforming government guidelines. CONCLUSIONS This algorithm may help to enable a broad reopening of the American economy while ensuring that patients at high risk for serious disease remain home until vaccination and testing become available.

Volunteering in hospice and palliative care in the United Kingdom

2018 ◽  
Author(s):  
Ros Scott
Keyword(s):  
Palliative Care ◽  
United Kingdom ◽  
Care Services ◽  
The United Kingdom ◽  
Strategic Direction ◽  
Palliative Care Services ◽  
History Of ◽  
The Uk ◽  
Hospice And Palliative Care ◽  
Changing Role

This chapter explores the history of volunteers in the founding and development of United Kingdom (UK) hospice services. It considers the changing role and influences of volunteering on services at different stages of development. Evidence suggests that voluntary sector hospice and palliative care services are dependent on volunteers for the range and quality of services delivered. Within such services, volunteer trustees carry significant responsibility for the strategic direction of the organiszation. Others are engaged in diverse roles ranging from the direct support of patient and families to public education and fundraising. The scope of these different roles is explored before considering the range of management models and approaches to training. This chapter also considers the direct and indirect impact on volunteering of changing palliative care, societal, political, and legislative contexts. It concludes by exploring how and why the sector is changing in the UK and considering the growing autonomy of volunteers within the sector.

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