Apolipoprotein genetic variation and human disease

1988 ◽  
Vol 68 (1) ◽  
pp. 85-132 ◽  
Author(s):  
J. L. Breslow

Atherosclerosis is the major public health problem in much of the world today. The information summarized in this review, based on the recognized apolipoprotein structural variants appreciated at both the protein and gene levels, indicates that apolipoprotein genetic variation plays a major role in determining human genetic susceptibility to this disease. With the use of cloned apolipoprotein genes, it should, in the near future, be possible to determine how their expression is regulated; this should provide insight into other classes of mutations of a regulatory nature that might have clinical significance. In addition, the many association and linkage studies currently being undertaken will provide the rationale for cloning defective alleles and determining specific causative mutations. Both structural and regulatory mutations can then be described either with restriction enzymes and Southern blotting or by direct oligonucleotide hybridization techniques in the general population. This will allow the identification of presymptomatic atherosclerosis-susceptible individuals who would be targets for primary preventative therapy.

2020 ◽  
Vol 11 (SPL1) ◽  
pp. 967-971
Author(s):  
Poonam Thakre ◽  
Waqar M. Naqvi ◽  
Trupti Deshmukh ◽  
Nikhil Ingole ◽  
Sourabh Deshmukh

The emergence in China of 2019 of severe acute respiratory syndrome coronavirus2 (SARS-CoV-2) previously provisionally names 2019-nCoV disease (COVID19) caused major global outbreak and is a major public health problem. On 30 January 2020, the WHO declared COVID19 to be the sixth international public health emergency. This present pandemic has engrossed the globe with a high rate of mortality. As a front line practitioner, physiotherapists are expected to be getting in direct contact with patients infected with the virus. That’s why it is necessary for understanding the many aspects of their role in the identification, contains, reduces and treats the symptoms of this disease. The main presentation is the involvement of respiratory system with symptoms like fever, cough, sore throat, sneezing and characteristics of pneumonia leads to ARDS(Acute respiratory distress syndrome) also land up in multiorgan dysfunction syndrome. This text describes and suggests physiotherapy management of acute COVID-19 patients. It also includes recommendations and guidelines for physiotherapy planning and management. It also covers the guidelines regarding personal care and equipment used for treatment which can be used in the treatment of acute adult patients with suspected or confirmed COVID-19.


Author(s):  
Mustapha Ahmed Yusuf ◽  
Mohammad Ali Oshaghi ◽  
Hassan Vatandoost ◽  
Ahmad Ali Hanafi-Bojd ◽  
Ahmadali Enayati ◽  
...  

Background: Malaria is a major public health problem in Nigeria with 97% of its population with high morbidity and mortality. Mosquitoes play an important role in the transmission of malaria parasites. This study was conducted to eval­uate the current resistance status of Anopheles gambiae to insecticides.  Methods: Larvae of An. gambiae was collected from three zones; A, B and C differentiated on the basis of variation in agricultural ecosystems between August and November, 2018 in the northeast and northwestern parts of Nigeria. They were carefully reared to adult stage and insecticidal susceptibility tests were conducted. Results: The mosquitoes tested showed high levels of resistance to all the insecticides used with the exception of mala­thion. Study zone A, recorded 74% mortality after 24h to deltamethrin compared to 81% from zone B and 82% from zone C, respectively. Mosquitoes from zone B exposed to DDT had the highest level of resistance at 37% compared to 40% and 53% from zones A and C, respec­tively. Resistant to bendiocarb was also observed, with zone A having the lowest mortality of 44% com­pared to 48% from zone C and 55% from Zone B, respectively. According to the results of knockdown tests, mosquitoes from Zone A exposed to deltamethrin recorded the lowest knockdown across the study locations while zone B recorded the lowest knockdown for DDT. Conclusion: The results of the study provide an insight into the current status of An. gambiae to four major insecticides in northern Nigeria as guideline for mosquitocontrol.


2021 ◽  
Author(s):  
Fauzy Nasher ◽  
Brendan W. Wren

The ubiquitous unicellular eukaryote, Acanthamoeba, is known to play a role in the survival and dissemination of Campylobacter jejuni. C. jejuni is the leading cause of bacterial foodborne gastroenteritis world-wide and is a major public health problem. The ability of C. jejuni to interact and potentially invade epithelial cells is thought to be key for disease development in humans. We examined C. jejuni grown under standard laboratory conditions,11168HCBA with that harvested from within Acanthamoeba castellanii (11168HAC/CBA) or Acanthamoeba polyphaga (11168HAP/CBA), and compared their ability to invade different cell lines. C. jejuni harvested from within amoebae had a ~3.7-fold increase in invasiveness into T84 human epithelial cells and a striking ~11-fold increase for re-entry into A. castellanii cells. We also investigated the invasiveness and survivability of six diverse representative C. jejuni strains within Acanthamoeba spp., our results confirm that invasion and survivability is likely host cell dependent. Our survival assay data led us to conclude that Acanthamoeba spp. are a transient host for C. jejuni and that survival within amoebae pre-adapts C. jejuni and enhances subsequent cell invasion. This study provides new insight into C. jejuni interactions with amoebae and its increased invasiveness potential in mammalian hosts.


2020 ◽  
pp. 1-5
Author(s):  
Tamar Etzioni-Friedman ◽  
Amos Etzioni

Immunizations have been saving the lives of millions of people since they were first used by Edward Jenner in 1796, and new vaccines are being developed all the time. Hopefully, a new vaccine for coronavirus disease 2019 (COVID-19) will be developed in the near future, and perhaps even one for human immunodeficiency virus. Although the effectiveness of vaccinations has been proven over the years and adverse effects to currently available vaccinations are extremely rare, many people continue to defer immunizations for themselves and their families. According to the World Health Organization (WHO), this phenomenon, known as “vaccine hesitancy,” is a major public health problem globally. This review summarizes the unproven adverse effects of various vaccines and stresses the importance of enforcing vaccination policies to minimize vaccine hesitancy. Every effort should be made to improve existing vaccines and to produce new ones, according to carefully designed scientific preclinical and clinical trials. This is particularly important in today’s era, in light of the global transparency regarding vaccination development, and the potential for future pandemics such as COVID-19.


Biomolecules ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1426
Author(s):  
Erind Gjermeni ◽  
Anna S. Kirstein ◽  
Florentien Kolbig ◽  
Michael Kirchhof ◽  
Linnaeus Bundalian ◽  
...  

Obesity represents a major public health problem with a prevalence increasing at an alarming rate worldwide. Continuous intensive efforts to elucidate the complex pathophysiology and improve clinical management have led to a better understanding of biomolecules like gut hormones, antagonists of orexigenic signals, stimulants of fat utilization, and/or inhibitors of fat absorption. In this article, we will review the pathophysiology and pharmacotherapy of obesity including intersection points to the new generation of antidiabetic drugs. We provide insight into the effectiveness of currently approved anti-obesity drugs and other therapeutic avenues that can be explored.


BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yulong Chen ◽  
Xunjun Yang ◽  
Yao Chen ◽  
Guorong Chen ◽  
Cheryl A. Winkler ◽  
...  

Abstract Background Hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) remains a major public health problem and its pathogenesis remains unresolved. A recent proteomics study discovered a lipid enzyme Sterol O-acyltransferase (SOAT1) involvement in the progression of HCC. We aimed to explore the association between SOAT1 genetic variation and HCC. Methods We genotyped three exonic SOAT1 variants (rs10753191, V323V; rs3753526, L475L; rs13306731, Q526R) tagging most variations in the gene, in 221 HCC patients and 229 healthy individuals, to assess the impact of SOAT1 gene variation on risk of HCC occurrence. We further conducted immunohistochemistry to compare SOAT1 protein expression levels in 42 paired tumor and adjacent non-tumor tissues. Results We found that rs10753191 (Odds ratio (OR) = 0.58, P = 0.04) and a haplotype TGA (OR = 0.40, P = 0.01) were associated with reduced HCC risk after adjusting for lipid levels. In the immunohistochemistry experiment, we found that the protein expression of SOAT1 was significantly increased in the tumor compared with adjacent tissue (P < 0.001). Conclusion This study revealed for the first time SOAT1 genetic variation that associates with host susceptibility to HCC occurrence. Our results suggest a role of SOAT1 in the HCC development, which warrants further elucidation.


Elements ◽  
2020 ◽  
Vol 16 (6) ◽  
pp. 407-411 ◽  
Author(s):  
Isabelle Chambefort ◽  
Andri Stefánsson

Hot fluids are nearly ubiquitous in volcanic environments in the Earth’s crust. Magma at depth heats groundwater which then ascends towards the Earth’s surface through faults, fractures, and otherwise permeable rocks. Fluids in geothermal systems offer direct insight into the many complex chemical and physical processes that occur in these extreme environments. They are also analogues of many ore-forming systems. Scientists have advanced our understanding of fluids in geothermal systems by studying wells sunk ~2–3 km deep into many geothermal fields. Today, we are targeting deeper and hotter reservoirs, at or near the contact of magmatic bodies, which provide unique opportunities to study, and potentially utilize, super-critical fluid resources in the near future.


2003 ◽  
Vol 48 (5) ◽  
pp. 292-300 ◽  
Author(s):  
Kees van Heeringen

Objective: To investigate the current state of knowledge regarding the neurobiology of suicide and suicidality. Method: The literature on the neurobiology of suicidality and suicide was reviewed. Results: There is clear evidence that the activity of 3 neurobiological systems has a role in the pathophysiology of suicidal behaviour. This includes hyperactivity of the hypothalamo-pituitary-adrenal axis, dysfunction of the serotonergic (5-HTergic) system, and excessive activity of the noradrenergic system. While the first and the last system appear to be involved in the response to stressful events, dysfunction of the serotonergic system is thought to be trait-dependent and associated with disturbances in the regulation of anxiety, impulsivity, and aggression. It can be hypothesized that neurobiological dysfunctions mediate the occurrence of suicidal behaviour through the disturbed modulation of basic neuropsychological functions. Conclusion: Increasing insight into the neurobiological basis of suicidal behaviour suggests that serotonin (5-HT) agonists have an important role in the treatment and prevention of suicidal behaviour. Studies of the efficacy of such drugs have, however, been disappointing. Because suicidal behaviour continues to be a major public health problem, further study is clearly needed, including research on the effect of combined pharmacologic and psychotherapeutic approaches.


Crisis ◽  
1999 ◽  
Vol 20 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Annie Mino ◽  
Arnaud Bousquet ◽  
Barbara Broers

The high mortality rate among drug users, which is partly due to the HIV epidemic and partly due to drug-related accidental deaths and suicides, presents a major public health problem. Knowing more about prevalence, incidence, and risk factors is important for the development of rational preventive and therapeutic programs. This article attempts to give an overview of studies of the relations between substance abuse, suicidal ideation, suicide, and drug-related death. Research in this field is hampered by the absence of clear definitions, and results of studies are rarely comparable. There is, however, consensus about suicidal ideation being a risk factor for suicide attempts and suicide. Suicidal ideation is also a predictor of suicide, especially among drug users. It is correlated with an absence of family support, with the severity of the psychosocial dysfunctioning, and with multi-drug abuse, but also with requests for treatment. Every clinical examination of a drug user, not only of those who are depressed, should address the possible presence of suicidal ideation, as well as its intensity and duration.


2018 ◽  
Vol 7 (4) ◽  
pp. 197-201
Author(s):  
Mir M Hassan Bullo ◽  
Mirza Amir Baig ◽  
Jawad Faisal Malik ◽  
Ejaz Ahmad Khan ◽  
Muazam Abbas Ranjha ◽  
...  

Background: Measles is highly contagious vaccine preventable disease (VPD), and a major public health problem considered as leading cause of morbidity and mortality in developing countries like Pakistan. An outbreak of measles was reported in Sharifabad Islamabad on 15th of April 2017, and an investigation was launched to assess the magnitude of outbreak, evaluate risk factors and recommend control measures. Methods: A comprehensive house to house active case search along with vaccine coverage survey was conducted from April 19-22, 2017. A case was defined as "onset of maculopapular rash with fever in a resident of Sharifabad with at least one of the following signs/ symptoms, Coryza, Conjunctivitis, Cough, Otitis media or Pneumonia present in between 19 March to 22nd April 2017". Four age & sex matched controls were selected from the neighborhood. Data was collected through interview method using structured questionnaire and vaccination coverage was determined by using Epi survey form. Blood samples were sent for laboratory confirmation. Results: A total of eight cases were identified through active case finding while three were reported by local practitioner. Mean age of cases were 20 months (range 8-36 months). Severely affected age-group was 1-2 years with attack rate of 46%. Around two-third (64%) of cases and a few (16%) of controls were unvaccinated against measles. Contact with measles patient [OR 25.2, CI 3.9-160.1, P=0.00], unvaccinated children [OR 9.2 CI 2.12-40.4, P=0.000], social misconception regarding vaccination [OR 7.8 CI 1.42-42.6, P=0.00], and distance from healthcare facility [OR 5.7 CI 1.15-28.35, P=0.02] were significant risk factors. Vaccine efficacy was 90%. Conclusion: Main reasons of the outbreak were contact with the cases, and low vaccination status. We recommended comprehensive measles vaccination and community awareness sessions. On our recommendations district health authority Islamabad carried out mop up of whole area.


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