scholarly journals A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

Blood ◽  
2013 ◽  
Vol 121 (18) ◽  
pp. 3586-3593 ◽  
Author(s):  
Maria M. Gramatges ◽  
Xiaodong Qi ◽  
Ghadir S. Sasa ◽  
Julian J.-L. Chen ◽  
Alison A. Bertuch
Keyword(s):  
Protein Function ◽  
Severe Disease ◽  
Computational Algorithms ◽  
Key Points ◽  
The Impact ◽  
Motif Variant ◽  
Limited Sensitivity

Key Points Biallelic inheritance of a telomerase T-motif mutation selectively impairs repeat addition processivity and results in severe disease. Computational algorithms commonly used to predict the impact of variants on protein function have limited sensitivity with regard to hTERT.

scholarly journals Burden of SARS-CoV-2 and protection from symptomatic second infection in children

2022 ◽  
Author(s):  
John Kubale ◽  
Angel Balmaseda ◽  
Aaron M Frutos ◽  
Nery Sanchez ◽  
Miguel Plazaola ◽  
...  
Keyword(s):  
Real Time ◽  
Severe Disease ◽  
Newborn Infants ◽  
Age Group ◽  
Older Children ◽  
Rt Pcr ◽  
Community Based ◽  
Key Points ◽  
The Impact ◽  
Children Under 5

AbstractImportanceThe impact of the SARS-CoV-2 pandemic on children remains unclear. Better understanding of the burden of COVID-19 among children and their protection against re-infection is crucial as they will be among the last groups vaccinated.ObjectiveTo characterize the burden of COVID-19 and assess how protection from symptomatic re-infection among children may vary by age.DesignA prospective, community-based pediatric cohort study conducted from March 1, 2020 through October 15, 2021.SettingThe Nicaraguan Pediatric Influenza Cohort is a community-based cohort in District 2 of Managua, Nicaragua.ParticipantsA total of 1964 children aged 0-14 years participated in the cohort. Non-immunocompromised children were enrolled by random selection from a previous pediatric influenza cohort. Additional newborn infants aged ≤4 weeks were randomly selected and enrolled monthly, via home visits.ExposuresPrior COVID-19 infection as confirmed by positive anti SARS-CoV-2 antibodies (receptor binding domain [RBD] and spike protein) or real time RT-PCR confirmed COVID-19 infection ≥60 days prior to current COVID-19.Main Outcomes and MeasuresSymptomatic COVID-19 cases confirmed by real time RT-PCR and hospitalization within 28 days of symptom onset of confirmed COVID-19 case.ResultsOverall, 49.8% of children tested were seropositive over the course of the study. There were also 207 PCR-confirmed COVID-19 cases, 12 (6.4%) of which were severe enough to require hospitalization. Incidence of COVID-19 was highest among children aged <2 years—16.1 per 100 person-years (95% Confidence Interval [CI]: 12.5, 20.5)—approximately three times that of children in any other age group assessed. Additionally, 41 (19.8%) symptomatic SARS-CoV-2 episodes were re-infections, with younger children slightly more protected against symptomatic reinfection. Among children aged 6-59 months, protection was 61% (Rate Ratio [RR]:0.39, 95% CI:0.2,0.8), while protection among children aged 5-9 and 10-14 years was 64% (RR:0.36,0.2,0.7), and 49% (RR:0.51,0.3-0.9), respectively.Conclusions and RelevanceIn this prospective community-based pediatric cohort rates of symptomatic and severe COVID-19 were highest among the youngest participants, with rates stabilizing around age 5. Reinfections represent a large proportion of PCR-positive cases, with children <10 years displaying greater protection from symptomatic reinfection. A vaccine for children <5 years is urgently needed.Key PointsQuestionWhat is the burden of COVID-19 among young children and how does protection from re-infection vary with age?FindingsIn this study of 1964 children aged 0-14 years children <5 years had the highest rates of symptomatic and severe COVID-19 while also displaying greater protection against re-infection compared to children ≥10 years.MeaningGiven their greater risk of infection and severe disease compared to older children, effective vaccines against COVID-19 are urgently needed for children under 5.

The impact of cultural factors on attachment dynamics: a view from Irish society

2019 ◽  
Vol 13 (2) ◽  
pp. 207-223
Author(s):  
Michael O’Toole
Keyword(s):  
Significant Role ◽  
Emotional Development ◽  
Cultural Factors ◽  
Seamus Heaney ◽  
Irish Society ◽  
Irish Context ◽  
Key Points ◽  
The Many ◽  
The Impact ◽  
The Relationship

In this article I examine aspects of the relationship between mothers and sons from an attachment perspective in an Irish context. Through the works of Irish writers such as Seamus Heaney, John McGahern, and Colm Tóibín, I focus on particular aspects of this relationship, which fails to support the developmental processes of separation and individuation in the many men who come to me for psychotherapy. I illustrate key points concerning this attachment dynamic through the use of clinical examples of my work with two men from my practice. While acknowledging that many other cultural factors play a significant role in the emotional development of children, integrating the work of our poets, novelists, and scholars with an attachment perspective

scholarly journals Decreased Medical Care During the COVID-19 Pandemic – A Comprehensive Analysis of Radiological Examinations

2021 ◽  
Author(s):  
Annette Aigner ◽  
Bernd Hamm ◽  
Florian Nima Fleckenstein ◽  
Tazio Maleitzke ◽  
Georg Böning ◽  
...  
Keyword(s):  
Medical Care ◽  
Control Period ◽  
Surrogate Marker ◽  
Medical Specialty ◽  
Case Volume ◽  
Medical Specialties ◽  
Key Points ◽  
Depth Analysis ◽  
The Impact ◽  
Radiological Examinations

Objectives As a cross-section discipline within the hospital infrastructure, radiological departments might be able to provide important information regarding the impact of the COVID-19 pandemic on healthcare. The goal of this study was to quantify changes in medical care during the first wave of the pandemic using radiological examinations as a comprehensive surrogate marker and to determine potential future workload. Methods A retrospective analysis of all radiological examinations during the first wave of the pandemic was performed. The number of examinations was compared to time-matched control periods. Furthermore, an in-depth analysis of radiological examinations attributed to various medical specialties was conducted and postponed examinations were extrapolated to calculate additional workload in the near future. Results A total of 596,760 examinations were analyzed. Overall case volumes decreased by an average of 41 % during the shutdown compared to the control period. The most affected radiological modalities were sonography (–54 %), X-ray (–47 %) followed by MRI (–42 %). The most affected medical specialty was trauma and orthopedics (–60 % case volume) followed by general surgery (–49 %). Examination numbers increased during the post-shutdown period leading to a predicted additional workload of up to 22 %. Conclusion This study shows a marked decrease in radiological examinations in total and among several core medical specialties, indicating a significant reduction in medical care during the first COVID-19 shutdown. Key Points: Citation Format

scholarly journals Splanchnic Vein Thrombosis in Acute Pancreatitis and Its Consequences

2021 ◽  
Vol 27 ◽  
pp. 107602962110102
Author(s):  
Łukasz Nawacki ◽  
Jarosław Matykiewicz ◽  
Ewa Stochmal ◽  
Stanisław Głuszek
Keyword(s):  
Acute Pancreatitis ◽  
Severe Disease ◽  
Vascular Complication ◽  
Strong Positive Correlation ◽  
Splanchnic Vein Thrombosis ◽  
Vein Thrombosis ◽  
Computed Tomography Scans ◽  
Negative Effect ◽  
Medical Histories ◽  
The Impact

Splanchnic vein thrombosis (SVT) is a serious vascular complication that can occur in patients with acute pancreatitis. We assessed the incidence of SVT and its relationship with acute pancreatitis (AP) and associated complications. We carried out a retrospective analysis of medical histories from patients hospitalized with AP in a single surgical center. Histories were acquired from patients with abdominal and pelvic computed tomography scans performed between the 2nd and 3rd day of hospitalization. We assessed the impact and extent of thrombosis over the disease course. We found a strong positive correlation (Cramer’s V coefficient = 0.34) between SVT and disease severity. Mortality in the study group was 7.2% (8 patients) of which 5 patients (62.5%) were diagnosed with SVT. We observed an increased incidence of death among patients with thrombosis, with results approaching significance ( P = 0.056). In our study, we found that SVT has a negative effect on the course of AP and is associated with more severe disease and increased mortality.

scholarly journals The interplay between environmental exposures and COVID-19 risks in the health of children

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Peter D. Sly ◽  
Brittany A. Trottier ◽  
Catherine M. Bulka ◽  
Stephania A. Cormier ◽  
Julius Fobil ◽  
...  
Keyword(s):  
Air Pollution ◽  
Air Quality ◽  
Disease Severity ◽  
Research Effort ◽  
Severe Disease ◽  
Environmental Exposures ◽  
Research Strategy ◽  
Lessons Learned ◽  
Research Questions ◽  
The Impact

Abstract Background An unusual feature of SARS-Cov-2 infection and the COVID-19 pandemic is that children are less severely affected than adults. This is especially paradoxical given the epidemiological links between poor air quality and increased COVID-19 severity in adults and that children are generally more vulnerable than adults to the adverse consequences of air pollution. Objectives To identify gaps in knowledge about the factors that protect children from severe SARS-Cov-2 infection even in the face of air pollution, and to develop a transdisciplinary research strategy to address these gaps. Methods An international group of researchers interested in children’s environmental health was invited to identify knowledge gaps and to develop research questions to close these gaps. Discussion Key research questions identified include: what are the effects of SAR-Cov-2 infection during pregnancy on the developing fetus and child; what is the impact of age at infection and genetic susceptibility on disease severity; why do some children with COVID-19 infection develop toxic shock and Kawasaki-like symptoms; what are the impacts of toxic environmental exposures including poor air quality, chemical and metal exposures on innate immunity, especially in the respiratory epithelium; what is the possible role of a “dirty” environment in conveying protection – an example of the “hygiene hypothesis”; and what are the long term health effects of SARS-Cov-2 infection in early life. Conclusion A concerted research effort by a multidisciplinary team of scientists is needed to understand the links between environmental exposures, especially air pollution and COVID-19. We call for specific research funding to encourage basic and clinical research to understand if/why exposure to environmental factors is associated with more severe disease, why children appear to be protected, and how innate immune responses may be involved. Lessons learned about SARS-Cov-2 infection in our children will help us to understand and reduce disease severity in adults, the opposite of the usual scenario.

scholarly journals The impact of COVID-19 on emergency surgical presentations in a university teaching hospital

2021 ◽  
Author(s):  
Ahmed M. Kamil ◽  
Matthew G. Davey ◽  
Fadi Marzouk ◽  
Rish Sehgal ◽  
Amy L. Fowler ◽  
...  
Keyword(s):  
Acute Appendicitis ◽  
Teaching Hospital ◽  
Historical Data ◽  
Severe Disease ◽  
University Teaching ◽  
Readmission Rates ◽  
Descriptive Data ◽  
Operative Complications ◽  
Hospital Patients ◽  
The Impact

Abstract Introduction The Coronavirus-19 (COVID-19) pandemic has led to a 50–70% reduction in acute non-COVID-19 presentations to emergency departments globally. Aim To determine the impact of COVID-19 on incidence, severity, and outcomes of acute surgical admissions in an Irish University teaching hospital. Methods Descriptive data concerning patients presenting with acute appendicitis, diverticulitis, and cholecystitis were analysed and compared from March–May 2020 to March–May 2019. Results Acute surgical admissions decreased in March from 191 (2020) to 55 (2019) (55%), before increasing by 28% in April (2019: 119, 2020: 153). Admissions due to acute cholecystitis reduced by 33% (2019: 33, 2020: 22), with increased severity at presentation (P = 0.079) and higher 30-day readmission rates (P = 0.056) reported. Acute appendicitis presentations decreased by 44% (2019: 78, 2020: 43, P = 0.019), with an increase in severity (P < 0.001), conservative management (P < 0.001), and post-operative complications (P = 0.029) in 2020 compared to the same period in 2019. Conclusion COVID-19 has potentiated a significant reduction in acute surgical presentations to our hospital. Patients presenting with acute appendicitis during the pandemic had more severe disease, were more likely to have complications, and were significantly more likely to be managed conservatively when compared to historical data.

scholarly journals The Epidemiological Characteristics of the COVID-19 Pandemic in Europe: Focus on Italy

2021 ◽  
Vol 18 (6) ◽  
pp. 2942
Author(s):  
Giovanni Gabutti ◽  
Erica d’Anchera ◽  
Francesco De Motoli ◽  
Marta Savio ◽  
Armando Stefanati
Keyword(s):  
Social Structures ◽  
World Population ◽  
European Continent ◽  
Key Points ◽  
Reporting Systems ◽  
The World ◽  
Definition Of ◽  
Epidemiological Characteristics ◽  
The Impact ◽  
Epidemiological Situation

Starting from December 2019, SARS-CoV-2 has forcefully entered our lives and profoundly changed all the habits of the world population. The COVID-19 pandemic has violently impacted the European continent, first involving only some European countries, Italy in particular, and then spreading to all member states, albeit in different ways and times. The ways SARS-CoV-2 spreads are still partly unknown; to quantify and adequately respond to the pandemic, various parameters and reporting systems have been introduced at national and European levels to promptly recognize the most alarming epidemiological situations and therefore limit the impact of the virus on the health of the population. The relevant key points to implement adequate measures to face the epidemic include identifying the population groups most involved in terms of morbidity and mortality, identifying the events mostly related to the spreading of the virus and recognizing the various viral mutations. The main objective of this work is to summarize the epidemiological situation of the COVID-19 pandemic in Europe and Italy almost a year after the first reported case in our continent. The secondary objectives include the definition of the epidemiological parameters used to monitor the epidemic, the explanation of superspreading events and the description of how the epidemic has impacted on health and social structures, with a particular focus on Italy.

scholarly journals Coronavirus disease (COVID-19) pandemic: an overview of systematic reviews

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Israel Júnior Borges do Nascimento ◽  
Dónal P. O’Mathúna ◽  
Thilo Caspar von Groote ◽  
Hebatullah Mohamed Abdulazeem ◽  
Ishanka Weerasekara ◽  
...  
Keyword(s):  
Systematic Reviews ◽  
Troponin I ◽  
Clinical Symptoms ◽  
Meta Analysis ◽  
Severe Disease ◽  
Ground Glass Opacity ◽  
Cochrane Library ◽  
Reactive Protein ◽  
Overview Of Systematic Reviews ◽  
The Impact

Abstract Background Navigating the rapidly growing body of scientific literature on the SARS-CoV-2 pandemic is challenging, and ongoing critical appraisal of this output is essential. We aimed to summarize and critically appraise systematic reviews of coronavirus disease (COVID-19) in humans that were available at the beginning of the pandemic. Methods Nine databases (Medline, EMBASE, Cochrane Library, CINAHL, Web of Sciences, PDQ-Evidence, WHO’s Global Research, LILACS, and Epistemonikos) were searched from December 1, 2019, to March 24, 2020. Systematic reviews analyzing primary studies of COVID-19 were included. Two authors independently undertook screening, selection, extraction (data on clinical symptoms, prevalence, pharmacological and non-pharmacological interventions, diagnostic test assessment, laboratory, and radiological findings), and quality assessment (AMSTAR 2). A meta-analysis was performed of the prevalence of clinical outcomes. Results Eighteen systematic reviews were included; one was empty (did not identify any relevant study). Using AMSTAR 2, confidence in the results of all 18 reviews was rated as “critically low”. Identified symptoms of COVID-19 were (range values of point estimates): fever (82–95%), cough with or without sputum (58–72%), dyspnea (26–59%), myalgia or muscle fatigue (29–51%), sore throat (10–13%), headache (8–12%) and gastrointestinal complaints (5–9%). Severe symptoms were more common in men. Elevated C-reactive protein and lactate dehydrogenase, and slightly elevated aspartate and alanine aminotransferase, were commonly described. Thrombocytopenia and elevated levels of procalcitonin and cardiac troponin I were associated with severe disease. A frequent finding on chest imaging was uni- or bilateral multilobar ground-glass opacity. A single review investigated the impact of medication (chloroquine) but found no verifiable clinical data. All-cause mortality ranged from 0.3 to 13.9%. Conclusions In this overview of systematic reviews, we analyzed evidence from the first 18 systematic reviews that were published after the emergence of COVID-19. However, confidence in the results of all reviews was “critically low”. Thus, systematic reviews that were published early on in the pandemic were of questionable usefulness. Even during public health emergencies, studies and systematic reviews should adhere to established methodological standards.

Clinical Impact of Combined Viral and Bacterial Infection in Pediatric Mycoplasmal Community-Acquired Pneumonia in Western China

2020 ◽  
Vol 12 (11) ◽  
pp. 1315-1322
Author(s):  
Zhuoxin Liang ◽  
Wenqiang Zhang ◽  
Yongjiang Jiang ◽  
Ping Wu ◽  
Senxiong Zhang ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Severe Disease ◽  
Lung Parenchyma ◽  
Community Acquired Pneumonia ◽  
Western China ◽  
Care Hospital ◽  
Hospital Data ◽  
Chest X Ray ◽  
Ventilation Rates ◽  
The Impact

Community-acquired pneumonia (CAP) refers to an infection contracted outside the hospital that leads to lung parenchyma inflammation. The clinical characteristics of Mycoplasma pneumoniae (M. pneumoniae) infection in CAP patients were rarely reported. The aim of this study was to describe the clinical characteristic and the impact of co-infections of M. pneumoniae with viral and bacterial pathogens in hospitalized children with CAP in Liuzhou, China. This study retrospects children diagnosed with CAP due to M. pneumoniae infection at a tertiary maternal and child health care hospital. Data related to co-infection pathogens, demographics, clinical characteristics, and hospitalization cost were collected from the electronic medical system in this hospital. A total of 983 children were diagnosed with mycoplasmal CAP in 2017. Among them, 18.2% had a bacterial-M. pneumoniae co-infection and 11.3% had a viral-M. pneumoniae co-infection. The highest infection rate of M. pneumoniae was 19.1% in February and March, while the highest rates of bacterial-M. pneumoniae and viral-M. pneumoniae co-infections were 3.6% in December and 2.3% in January, respectively. The prevalence of coughing and wheezing had significant differences between the bacterial- or viral-M. pneumoniae co-infections and the mono-infection groups. Furthermore, the chest X-ray progression, pleural effusions, respiratory failure, and ventilation rates were higher in the respiratory viral- and bacterial-M. pneumoniae co-infection groups than in the mono-infection group. Children with a bacterial or respiratory viral co-infection had a longer hospitalization and spent more on treatment fees than those with a M. pneumoniae mono-infection (P value <0.001). We conclude that children with mycoplasmal CAP, either with a bacterial or viral co-infection, who show signs of coughing and wheezing and have a radiographic progression, will have a severe disease progression and should be specifically treated and managed.

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