scholarly journals Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants

2021 ◽  
Vol 12 ◽  
Author(s):  
Liu Yunfeng ◽  
Han Tongyan ◽  
Wang Jing ◽  
Tong Xiaomei

Idiopathic infantile arterial calcification (IIAC), also known as generalized arterial calcification of infancy (GACI), is a heritable ectopic mineralization disorder that results in diffuse arterial calcifications and or stenosis, which are attributed to mutations in the ENPP1 gene. In this case study, we report the development of IIAC in a 2-month-old male preterm infant. The patient presented with severe hypertension and seizures, which revealed diffused calcifications and c.130C > T and c.1112A > T mutations in the ENPP1 gene. With biphosphonate, antihypertensive, and control epilepsy therapy, his blood pressure was maintained at 110–120/50–60 mmHg. Intellectual motor development retardation was anticipated in this patient. To the best of our knowledge, this is the first case in which a novel c.130C > T mutation in the ENPP1 gene has been identified, and the administration of bisphosphonates to patients with IIAC has been assessed.

Author(s):  
Joseph Kawuki ◽  
Quraish Sserwanja ◽  
Nathan Obore ◽  
Johnson Wang ◽  
Joseph Lau

Abstract Objective: COVID-19 being a rapidly evolving pandemic, early lessons from the first deaths must be learnt to help feed into the public health guidelines. This study, therefore, aims to present the first two deaths due to COVID-19 in Uganda and their public health relevance.Cases: The first case was a 34-year female and support staff at a health center II. She first presented with COVID-19 like symptoms before dying on 21st July 2020. The second case was an 80 years old female, who also presented with COVID-19 like symptoms before dying on 24th July 2020. The postmortem samples of both cases were confirmed positive for COVID-19. Conclusion: This study identifies a need for timely identification and testing of COVID-19 suspects, strengthening of health center capacity, as well as more awareness for effective prevention and control of COVID-19.


2021 ◽  
Author(s):  
Joy Monteiro ◽  
Bhalchandra Pujari ◽  
Sarika Maitra Bhattacharrya ◽  
Anu Raghunathan ◽  
Ashwini Keskar ◽  
...  

With more than 140 million people infected globally and 3 million deaths, the COVID 19 pandemic has left a lasting impact. A modern response to a pandemic of such proportions needs to focus on exploiting all available data to inform the response in real-time and allow evidence-based decision-making. The intermittent lockdowns in the last 13 months have created economic adversity to prevent anticipated large-scale mortality and relax the lockdowns have been an attempt at recovering and balancing economic needs and public health realities. This article is a comprehensive case study of the outbreak in the city limits of Pune, Maharashtra, India, to understand the evolution of the disease and transmission dynamics starting from the first case on March 9, 2020. A unique collaborative effort between the Pune Municipal Corporation (PMC), a government entity, and the Pune knowledge Cluster (PKC) allowed us to layout a context for outbreak response and intervention. We report here how access to granular data for a metropolitan city with pockets of very high-density populations will help analyze, in real-time, the dynamics of the pandemic and forecasts for better management and control of SARS-CoV-2. Outbreak data analytics resulted in a real-time data visualization dashboard for accurate information dissemination for public access on the epidemic's progress. As government agencies craft testing and vaccination policies and implement intervention strategies to mitigate a second wave, our case study underscores the criticality of data quality and analytics to decode community transmission of COVID-19.


2018 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohamad Nizam Mohamed Shapie ◽  
Jon Oliver ◽  
Peter O’Donoghue ◽  
Richard Tong

Background & Study Aim: The purpose of the current case study was to describe the activity pattern of individual exponents during competitive fights completed before and after six weeks circuit training programme. Material & Methods: Thirteen and 16-year-old experimental (E13 and E16) and control (C13 and C16) participants were paired and videoed with fighting before and after 6-week training. Exponents were chosen based on their age, maturation, weight, competitive standard (none had participated in an official silat match), and initial fitness performance. All matches were converted into .mpg files and analysed using the same procedure. The distribution of outcomes was analysed and used as an index of performance for more detailed analysis. Results: The E13 increased the frequency of kicking during competition post-training, which is suggested to reflect transference of improved fitness to competition. Both E13 and C13 improved the ability to dodge their opponent attacks, likely reflecting a response to technical coaching. The frequency of actions during competition generally decreased for both older participants, suggesting limited fitness transference to competition. All individuals demonstrated some meaningful improvements in fitness following the intervention period. However, these responses did not necessarily reflect the group finding. Conclusions: This was the first case study to examine the changes in competitive fighting performance of four young performers from experimental and control groups following a silat-specific circuit training programme. Therefore, fitness gains together with technical coaching may transfer to competition in younger exponents, while alterations in strategy may have been more decisive in the older group. The research has provided further insight of fitness development and trainability, and also transference fitness into competitive performance in youth silat which may help to facilitate coaches of the demands and requirements of the combat sport.


2016 ◽  
Vol 2 (1) ◽  
Author(s):  
Christopher Colwell

Social media applications, such as Facebook, have been described as “documents without borders”. (Skare & Lund, 2014). In an Australian Government context these documents (which may also be records) exist outside the boundaries of the organisation to which they relate, and which created them. Unlike other documents in an organisational setting, they are “unbound” from the usual organisational processes of creation, management and control but still subject to relevant legislative and recordkeeping obligations (Hesling, 2014). This paper explores initial themes from the first case study of a larger doctoral study into the perceptions of records in Australian Government agencies. Among these themes are that organisational processes and the socio-material nature of social media may affect how users construct their concepts around records and the transparency and the reliability of records in an age of “unbounded documents”.


2017 ◽  
Vol 16 (3) ◽  
pp. 587-595
Author(s):  
Vasile Mircea Cristea ◽  
Ph.m Thai Hoa ◽  
Mihai Mogos-Kirner ◽  
Csavdari Alexandra ◽  
Paul Serban Agachi

2019 ◽  
Vol 67 (4) ◽  
pp. 315-329
Author(s):  
Rongjiang Tang ◽  
Zhe Tong ◽  
Weiguang Zheng ◽  
Shenfang Li ◽  
Li Huang

2020 ◽  
Vol 18 (4) ◽  
pp. 228-236
Author(s):  
Zeinab Najafi ◽  
Leila Taj ◽  
Omid Dadras ◽  
Fatemeh Ghadimi ◽  
Banafsheh Moradmand ◽  
...  

: Iran has been one of the active countries fighting against HIV/AIDS in the Middle East during the last decades. Moreover, there is a strong push to strengthen the national health management system concerning HIV prevention and control. In Iran, HIV disease has its unique features, from changes in modes of transmission to improvement in treatment and care programs, which can make it a good case for closer scrutiny. The present review describes the HIV epidemic in Iran from the first case diagnosed until prevention among different groups at risk and co-infections. Not only we addressed the key populations and community-based attempts to overcome HIV-related issues in clinics, but we also elaborated on the efforts and trends in society and the actual behaviors related to HIV/AIDS. Being located in the Middle East and North Africa (MENA) region, given the countryspecific characteristics, and despite all the national efforts along with other countries in this region, Iran still needs to take extra measures to reduce HIV transmission, especially in health education. Although Iran is one of the pioneers in implementing applicable and appropriate policies in the MENA region, including harm reduction services to reduce HIV incidence, people with substance use disorder continue to be the majority of those living with HIV in the country. Similar to other countries in this region, the HIV prevention and control programs aim at 90-90-90 targets to eliminate HIV infection and reduce the transmission, especially the mother-to-child transmission and among other key populations.


Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.


Author(s):  
Kathryn M. de Luna

This chapter uses two case studies to explore how historians study language movement and change through comparative historical linguistics. The first case study stands as a short chapter in the larger history of the expansion of Bantu languages across eastern, central, and southern Africa. It focuses on the expansion of proto-Kafue, ca. 950–1250, from a linguistic homeland in the middle Kafue River region to lands beyond the Lukanga swamps to the north and the Zambezi River to the south. This expansion was made possible by a dramatic reconfiguration of ties of kinship. The second case study explores linguistic evidence for ridicule along the Lozi-Botatwe frontier in the mid- to late 19th century. Significantly, the units and scales of language movement and change in precolonial periods rendered visible through comparative historical linguistics bring to our attention alternative approaches to language change and movement in contemporary Africa.


Author(s):  
A.C.C. Coolen ◽  
A. Annibale ◽  
E.S. Roberts

This chapter reviews graph generation techniques in the context of applications. The first case study is power grids, where proposed strategies to prevent blackouts have been tested on tailored random graphs. The second case study is in social networks. Applications of random graphs to social networks are extremely wide ranging – the particular aspect looked at here is modelling the spread of disease on a social network – and how a particular construction based on projecting from a bipartite graph successfully captures some of the clustering observed in real social networks. The third case study is on null models of food webs, discussing the specific constraints relevant to this application, and the topological features which may contribute to the stability of an ecosystem. The final case study is taken from molecular biology, discussing the importance of unbiased graph sampling when considering if motifs are over-represented in a protein–protein interaction network.


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