scholarly journals A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

2019 ◽  
Vol 09 (01) ◽  
pp. 040-043
Author(s):  
Ahmet Burak Arslan ◽  
Ayşe Gül Zamani ◽  
Sevgi Pekcan ◽  
Mahmut Selman Yıldırım
Keyword(s):  
Cystic Fibrosis ◽  
The United States ◽  
Clinical Findings ◽  
World Health ◽  
Cftr Gene ◽  
Sequencing Analysis ◽  
Nucleotide Exchange ◽  
Pathogenic Variants ◽  
Health Organization ◽  
Additional Value

AbstractCystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literature. However, the diagnosis of CF, which was thought to become easier after the CFTR gene was identified, became more complicated due to the enormous amount of variations. In this study, we present a patient whose clinical findings were consistent with cystic fibrosis (CF) and showed a homozygous missense change that is not previously reported in the CFTR gene as pathogenic. In the next-generation sequencing analysis, homozygous c.4096A > T single-nucleotide exchange (I1366F [p.Ile1366Phe], missense) was shown in both alleles of the patient' CFTR gene. According to our database analysis, this variant has not yet been previously reported (VarSome, ClinVar, MutationTaster, Ensembl, dbSNP, PubMed). We do consider the change as pathogenic since the patient's findings were compatible with CF and the data analysis was in favor of pathogenicity. The most recent consensus report published in 2017 emphasized the importance of CFTR gene analysis, and this study emphasizes the difficulties of associating CFTR gene variations with a clinical picture and constitutes a new data on the genotype–phenotype correlation of CFTR variants. Also, considering the frequency of CF (according to World Health Organization data, every 1 out of 2,000–3,000 infants is born with CF in European Union countries and every 1 out of 3,500 in the United States) as well as the increasing rate of molecular studies performed on CF patients worldwide, reporting novel variation has an additional value.

scholarly journals Malaria continues to select for sickle cell trait in Central Africa

2015 ◽  
Vol 112 (22) ◽  
pp. 7051-7054 ◽  
Author(s):  
Eric Elguero ◽  
Lucrèce M. Délicat-Loembet ◽  
Virginie Rougeron ◽  
Céline Arnathau ◽  
Benjamin Roche ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Genetic Disorder ◽  
Central Africa ◽  
The United States ◽  
Malaria Prevalence ◽  
Current Data ◽  
World Health ◽  
Human Populations ◽  
Health Organization

Sickle cell disease (SCD) is a genetic disorder that poses a serious health threat in tropical Africa, which the World Health Organization has declared a public health priority. Its persistence in human populations has been attributed to the resistance it provides to Plasmodium falciparum malaria in its heterozygous state, called sickle cell trait (SCT). Because of migration, SCT is becoming common outside tropical countries: It is now the most important genetic disorder in France, affecting one birth for every 2,400, and one of the most common in the United States. We assess the strength of the association between SCT and malaria, using current data for both SCT and malaria infections. A total of 3,959 blood samples from 195 villages distributed over the entire Republic of Gabon were analyzed. Hemoglobin variants were identified by using HPLCy (HPLC). Infections by three species of Plasmodium were detected by PCR followed by sequencing of a 201-bp fragment of cytochrome b. An increase of 10% in P. falciparum malaria prevalence is associated with an increase by 4.3% of SCT carriers. An increase of 10 y of age is associated with an increase by 5.5% of SCT carriers. Sex is not associated with SCT. These strong associations show that malaria remains a selective factor in current human populations, despite the progress of medicine and the actions undertaken to fight this disease. Our results provide evidence that evolution is still present in humans, although this is sometimes questioned by scientific, political, or religious personalities.

PUBLIC HEALTH, NURSING AND MEDICAL SOCIAL WORK

PEDIATRICS ◽  
1951 ◽  
Vol 8 (4) ◽  
pp. 570-572
Keyword(s):  
Premature Infants ◽  
The United States ◽  
World Health ◽  
Multiple Birth ◽  
Expert Committee ◽  
Medical Social Work ◽  
Incidence And Mortality ◽  
Health Nursing ◽  
Health Organization ◽  
Intrinsic Variable

IN THE summary of the report of the Expert Committee on Prematurity of the World Health Organization, published in this column in February 1951, Dr. Ethel Dunham indicated the concern of the Expert Committee in regard to uniformity of information on the incidence and mortality of prematurity. The need for uniformity is particularly urgent in a field where there are so many intrinsic variable factors. It has been shown time and again that the ability of a premature infant to survive, under the best of care, is closely correlated with the birth weight, which in itself reflects the stage of maturity. In turn, the stage of maturity at a given weight is affected by sex, race, and whether the child is a single or one of a multiple birth. Uniformly, at a particular stage of maturity, male infants are larger than female, single births are larger than multiple births and, in the United States, white babies are larger than Negro babies. These considerations underline the danger of misinterpretation of so-called over-all rates for the incidence of prematurity and for the mortality of premature infants. For example, at any given weight, Negro premature infants are probably more mature and consequently have a better chance of surviving.

The Ethics of COVID-19 Vaccine Passports

2021 ◽  
Vol 46 (4) ◽  
pp. 1-2
Author(s):  
Joseph Meaney ◽  
Keyword(s):  
United States ◽  
World Health Organization ◽  
The United States ◽  
Scientific Data ◽  
World Health ◽  
Medical Decisions ◽  
The Poor ◽  
Divided Society ◽  
The World ◽  
Health Organization

COVID-19 vaccine passports run the risk of creating a divided society where social privileges or restrictions based on “fitness” lead to discrimination based on immunization status. Individuals have a strong right to be free of coercion to take a COVID-19 vaccine, and we should be very leery of further invasion of private medical decisions. These concerns are shared both internationally and in the United States, and the World Health Organization, the Biden administration, and many US governors oppose COVID-19 vaccine credentials. In addition, regulations for COVID-19 vaccine credentials face practical barriers, including lack of access globally, especially among the poor; and lack of scientific data on the efficacy of these vaccines.

Accounting for the Rising Caesarean Section Rate in Canada: What Are the Roles of Changing Needs, Practices, and Incentives?

2021 ◽  
Author(s):  
Michael Baker ◽  
Maripier Isabelle ◽  
Mark Stabile ◽  
Sara Allin
Keyword(s):  
Caesarean Section ◽  
Financial Incentives ◽  
Health Care Systems ◽  
Caesarean Section Rate ◽  
The United States ◽  
World Health ◽  
Strong Increase ◽  
Primary Determinant ◽  
Care Systems ◽  
Health Organization

In most high-income countries, including Canada, the share of births by Caesarean section (C‑section) has risen over the past decades to far exceed World Health Organization recommendations of the proportion justified on medical grounds (15 percent). Although unnecessary C-sections represent an important cost for health care systems, they are not associated with clear benefits for the mother and the child and can sometimes represent additional risks. Drawing on administrative records of nearly four million births in Canada, as well as macro data from the United States and Australia, we provide a comprehensive account of rising C-section rates. We explicitly consider the contributions of the main factors brought forward in the policy literature, including changing characteristics of mothers, births, and physicians as well as changing financial incentives for C-section deliveries. These factors account for at most one-half of the increase in C-section rates. The majority of the remaining increase in C-sections over the period 1994–2011 occurred in the early 2000s. We suggest that some event or shock in the early 2000s is likely the primary determinant of the recent strong increase in the C-section rate in Canada.

Clinical and genetic characteristics of rare pathogenic variants of the CFTR gene in Russian patients with cystic fibrosis

2021 ◽  
Vol 31 (2) ◽  
pp. 148-158
Author(s):  
A. Yu. Voronkova ◽  
Yu. L. Melyanovskaya ◽  
N. V. Petrova ◽  
T. A. Adyan ◽  
E. K. Zhekaite ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Variants ◽  
Pancreatic Insufficiency ◽  
Protein Energy Malnutrition ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Cftr Gene ◽  
Genetic Characteristics ◽  
Missense Variants ◽  
Pathogenic Variants

The variety of clinical manifestations of cystic fibrosis is driven by the diversity of the CFTR gene nucleotide sequence. Descriptions of the clinical manifestations in patients with the newly identified genetic variants are of particular interest.The aim of this study was to describe clinical manifestations of the disease with the newly identified genetic variants.Methods. Data from Registry of patients with cystic fibrosis in the Russian Federation (2018) were used. The data review included three steps — the search for frequent mutations, Sanger sequencing, and the search for extensive rearrangements by MLPA. 38 pathogenic variants were identified that were not previously described in the international CFTR2 database. We selected and analyzed full case histories of 15 patients with 10 of those 38 pathogenic variants: p.Tyr84*, G1047S, 3321delG, c.583delC, CFTRdele13,14del18, CFTRdele19-22, c.2619+1G>A, c.743+2T>A, p.Glu1433Gly, and CFTRdel4-8del10-11.Results. A nonsense variant p.Tyr84* was found in 5 patients (0.08 %). Two missense variants c.3139G>A were found in 2 siblings (0.03 %). The c.4298A>G was found in 1 patient. Other variants were detected in a single patient (0.02 %) each. They included two variants of a deletion with a shift of the reading frame 3321delG and c.583delC, two splicing disorders c.2619+1G>A and c.743+2T>A, three extended rearrangements CFTRdele19-22, CFTRdele13,14del18, and CFTRdel4-8del10-11. The last two variants include 2 rearrangements on one allele, which cause the severe course in two young children. 8 of the 10 variants are accompanied by pancreatic insufficiency (PI). Among patients with p.Tyr84*, one had ABPA, one had liver transplantation, and all had Pseudomonas aeruginosa infection. Nasal polyps were diagnosed in 2 patients with p.Tyr84*, 1 with G1047S, 1 with CFTRdel4-8del10-11, and 1 patient with 3321delG, who also had osteoporosis and cystic fibrosis-related diabetes (CFRD). 2 patients with PI with 3321delG and CFTRdel4-8del10-11 genetic variants, and 1 with PI with p.Glu1433Gly genetic variant had severe protein-energy malnutrition (PEM).Conclusion. Clinical manifestations of previously undescribed CFTR genetic variants were described. 5/10 genetic variants should be attributed to class I, 3/10 – to class 7 of the function classification of pathogenic CFTR gene variants associated with transcription and translation disruptions. Class of the identified missense variants c.3139G>A and c.4298A>G has not been established and requires further functional, cultural, and molecular genetic studies.

(Mis)Information on Digital Platforms: Lessons from Twitter and Sina Weibo in the COVID-19 Pandemic (Preprint)

2021 ◽  
Author(s):  
Sarah Kreps
Keyword(s):  
Public Health ◽  
World Health Organization ◽  
Public Discourse ◽  
The United States ◽  
World Health ◽  
Sina Weibo ◽  
Digital Platforms ◽  
The World ◽  
Health Organization ◽  
Relative Prevalence

BACKGROUND Misinformation about COVID-19 has presented challenges to public health authorities during pandemics. Understanding the prevalence and type of misinformation across contexts offers a way to understand the discourse around COVID-19 while informing potential countermeasures. OBJECTIVE The aim of the study was to study COVID-19 content on two prominent microblogging platform, Twitter, based in the United States, and Sina Weibo, based in China, and compare the content and relative prevalence of misinformation to better understand public discourse of public health issues across social media and cultural contexts. METHODS A total of 3,579,575 posts were scraped from both Weibo and Twitter, focusing on content from January 30th, 2020, when the World Health Organization (WHO) declared COVID-19 a “Public Health Emergency of International Concern” and February 6th, 2020. A 1% random sample of tweets that contained both the English keywords “coronavirus” and “covid-19” and the equivalent Chinese characters was extracted and analyzed based on changes in the frequencies of keywords and hashtags. Misinformation on each platform was compared by manually coding and comparing posts using the World Health Organization fact-check page to adjudicate accuracy of content. RESULTS Both platforms posted about the outbreak and transmission but posts on Sina Weibo were less likely to reference controversial topics such as the World Health Organization and death and more likely to cite themes of resisting, fighting, and cheering against the coronavirus. Misinformation constituted 1.1% of Twitter content and 0.3% of Weibo content. CONCLUSIONS Quantitative and qualitative analysis of content on both platforms points to cross-platform differences in public discourse surrounding the pandemic and informs potential countermeasures for online misinformation.

scholarly journals A comparative analysis of world health systems and Covid-19

2021 ◽  
Vol 38 (2) ◽  
pp. 115-120
Author(s):  
Ayşe İKİNCİ KELEŞ ◽  
Gökhan KELEŞ
Keyword(s):  
Health Systems ◽  
Social Life ◽  
Meta Analysis ◽  
Good Health ◽  
The United States ◽  
World Health ◽  
The Face ◽  
The Usa ◽  
Health Organization ◽  
Second Wave

Coronavirus disease 2019 (COVID-19), which causes severe airway problems, first emerged in the Chinese city of Wuhan. The virus led to a pandemic that affected the entire world. COVID-19 affects not only health, but also economic and social life. The emergence of this pandemic has led to health systems across the world being questioned. The aim of this study was to assess the adequacy of world health systems in the face of this pandemic. Twelve countries were selected and analyzed in the study. The choice of these countries was determined by the number of COVID-19 cases and deaths. Information concerning health systems and COVID-19 was obtained from Organization for Economic Co-operation and Development 2018, World Health Organization 2020 and Deep Knowledge Group data and was subjected to statistical analysis. According to the analysis, the country with the highest investment in health expenditures is the United States (10586 US dollars/capita), and Germany stands out as the best in health services. Another finding is the first and second wave of COVID-19 was identified as the USA with the highest case and death rate (First wave cases 1.942.363 and deaths 110.514; second wave cases at 7.419.230 and deaths 2.09.450). As a result of the meta-analysis, it is revealed that only socio-economic power is not enough, countries with good health systems are more successful in the pandemic. In addition, the analysis once again reveal how important health systems are in the face of such a pandemic.

scholarly journals Magnesium Sulphate For Tetanus, review of two cases

Medicinus ◽  
2020 ◽  
Vol 7 (4) ◽  
pp. 112
Author(s):  
Tirta Darmawan Susanto
Keyword(s):  
Intensive Care ◽  
Autonomic Dysfunction ◽  
Magnesium Sulphate ◽  
Case Series ◽  
Clinical Findings ◽  
Muscle Spasm ◽  
World Health ◽  
Control Muscle ◽  
Hospitalization Period ◽  
Health Organization

<div class="WordSection1"><p><strong>Introduction</strong><strong>: </strong>Tetanus is critically ill disease with long term hospitalization period. It need to be carefully monitored, usually in intensive care unit and involves critical care physicians. Benzodiazepine is preferred by World Health Organization (WHO) for muscle spasm control in tetanus, but it will be less costly if magnesium sulphate can be used alone to control spasm and autonomic dysfunction in tetanus. We report a series of 2 tetanus cases that were treated using magnesium sulphate to provide a brief clinical description about the use of magnesium sulphate in tetanus. We also give a brief review on epidemiology, pathophysiology, clinical findings, diagnosis, and treatment of tetanus to provide implications for intensive care physicians. Methods : Case series report</p><p><strong>Results : </strong>Two patients with tetanus was given magnesium sulphate infusion to control muscle spasm and autonomic dysfunction with good results as expected. Both of them were survive and discharged home in healthy condition.</p><p><strong>Conclusions :</strong></p><p>Magnesium sulphate can also be used to control muscle spasm and autonomic dysfunction although WHO recommend benzodiazepines for controlling muscle spasm. Intensive care physicians should have enough knowledge about tetanus and how it should be managed adequately to ensure survival from tetanus.</p></div>

scholarly journals High global consumption of potentially inappropriate fixed dose combination antibiotics: Analysis of data from 75 countries

PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0241899
Author(s):  
Barbara Bortone ◽  
Charlotte Jackson ◽  
Yingfen Hsia ◽  
Julia Bielicki ◽  
Nicola Magrini ◽  
...  
Keyword(s):  
The United States ◽  
Antibiotic Consumption ◽  
Essential Medicines ◽  
World Health ◽  
Fixed Dose ◽  
Middle Income ◽  
Us Fda ◽  
Analysis System ◽  
Health Organization ◽  
Data Analysis System

Antibiotic fixed dose combinations (FDCs) can have clinical advantages such as improving effectiveness and adherence to therapy. However, high use of potentially inappropriate FDCs has been reported, with implications for antimicrobial resistance (AMR) and toxicity. We used a pharmaceutical database, IQVIA-Multinational Integrated Data Analysis System (IQVIA-MIDAS®), to estimate sales of antibiotic FDCs from 75 countries in 2015. Antibiotic consumption was estimated using standard units (SU), defined by IQVIA as a single tablet, capsule, ampoule, vial or 5ml oral suspension. For each FDC antibiotic, the approval status was assessed by either registration with the United States Food and Drug Administration (US FDA) or inclusion on the World Health Organization (WHO) Essential Medicines List (EML). A total of 119 antibiotic FDCs were identified, contributing 16.7 x 109 SU, equalling 22% of total antibiotic consumption in 2015. The most sold antibiotic FDCs were amoxicillin-clavulanic acid followed by trimethoprim/sulfamethoxazole and ampicillin/cloxacillin. The category with the highest consumption volume was aminopenicillin/β-lactamase inhibitor +/- other agents. The majority of antibiotic FDCs (92%; 110/119) were not approved by the US FDA. Of these, the most sold were ampicillin/cloxacillin, cefixime/ofloxacin and metronidazole/spiramycin. More than 80% (98/119) of FDC antibiotics were not compatible with the 2017 WHO EML. The countries with the highest numbers of FDC antibiotics were India (80/119), China (25/119) and Vietnam (19/119). There is high consumption of FDC antibiotics globally, particularly in middle-income countries. The majority of FDC antibiotic were not approved by either US FDA or WHO EML. International initiatives such as clear guidance from the WHO EML on which FDCs are not appropriate may help to regulate the manufacturing and sales of these antibiotics.

scholarly journals Quality Evaluation of Ethambutol Hydrochloride Tablet Batches Available in Governmental Health Facilities of Jimma Town, Southwest Ethiopia

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Meseret Yirdaw ◽  
Belachew Umeta ◽  
Yimer Mokennen
Keyword(s):  
World Health Organization ◽  
The United States ◽  
Health Facilities ◽  
World Health ◽  
Southwest Ethiopia ◽  
Weight Variation ◽  
The World ◽  
Storage Area ◽  
Health Organization ◽  
Jimma Town

Background. The availability of poor-quality drugs on the drug market might favor the ineffectiveness of the drug and/antimicrobial resistance. Aim. To evaluate the quality of similar batches of ethambutol hydrochloride tablets available in different governmental health facilities of Jimma town, southwest Ethiopia. Methods. The World Health Organization checklist was used to inspect the storage area of health facilities and check medicines for the sign of counterfeit. The test was conducted as per the United States Pharmacopeia on six similar batches of ethambutol hydrochloride sampled from different governmental health facilities. Data were analyzed using SPSS version 20, and one-way ANOVA was used for comparing the dissolution profile and weight variation of batches. Results. Three health facilities did not comply with the storage area specifications for pharmaceuticals. No batches have shown any sign of counterfeit. All of the tablet batches tested complied with USP specifications for weight variation, percentage purity, and dissolution test. Conclusions and Recommendation. The entire tablet batches complied with the World Health Organization specification for packaging and labelling of pharmaceuticals. All tablet batches complied with the test for weight variation, purity of drug substance, and dissolution. Since some health facilities did not comply with at least one specification for storage of pharmaceuticals, regulatory agencies and stack holders are advised to inspect the health facilities to ensure appropriate storage of pharmaceuticals in health facilities.

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