scholarly journals The Prevalence of β-Thalassemia and Other Hemoglobinopathies in Kuwaiti Premarital Screening Program: An 11-Year Experience

2021 ◽  
Vol 11 (10) ◽  
pp. 980
Author(s):  
Najat Rouh AlDeen ◽  
Asmaa A Osman ◽  
Monira J Alhabashi ◽  
Rasha Al Khaldi ◽  
Hassan Alawadi ◽  
...  
Keyword(s):  
High Risk ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Health Care Systems ◽  
Adult Population ◽  
Maternity Hospital ◽  
Diagnostic Laboratory ◽  
Care Systems ◽  
Premarital Screening

This study aims to estimate the prevalence rates of β-thalassemia and Sickle cell disorders in the adult population screened (n = 275,819) as part of the Kuwaiti National Premarital Screening Program. All the individuals who applied for a marriage license during the years 2009 and 2020 were covered by the program. A network of four reception centers in the Ministry of Health facilities and one Premarital Diagnostic Laboratory (PDL) in Maternity Hospital were involved in performing all investigations for hemoglobinopathies. The total number of individuals identified with β-thal trait was 5861 (2.12%), while 22 individuals (0.008%) were diagnosed with β-thal disease. A total of 5003 subjects (1.81%) were carrying the Sickle cell trait, while 172 subjects (0.062%) had Sickle cell disease including Sickle cell anemia (SCA). Results showed that the program succeeded indeed in preventing the marriage of 50.4% of risky couples by issuing unsafe marriage certificates. Yet more efforts are needed to improve the program’s main objective of decreasing high-risk marriages. In particular, health care systems should be ameliorated in a way to intensify the counselling mechanism for the high-risk couples, strengthen the awareness of the general population and induce earlier age screening policies.

scholarly journals Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Hassan Abdu Hamali ◽  
Muhammad Saboor
Keyword(s):  
Sickle Cell ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Thalassemia Major ◽  
Research Centre ◽  
Potential Threat ◽  
Hemoglobin E ◽  
Iron Deficient ◽  
Premarital Screening

Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed. Results: One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron deficient (7.23%). Conclusion: A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program. doi: https://doi.org/10.12669/pjms.35.6.976 How to cite this:Hamali HA, Saboor M. Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611-1615.  doi: https://doi.org/10.12669/pjms.35.6.976 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

APPROACHES TO SCREENING

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Community Education ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Tertiary Care ◽  
The State ◽  
Public Health Department ◽  
Newborn Screening Program ◽  
Tertiary Care Centers

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).

scholarly journals COVID-19: Rethinking the Lockdown Groupthink

2021 ◽  
Vol 9 ◽  
Author(s):  
Ari R. Joffe
Keyword(s):  
Public Health ◽  
High Risk ◽  
Cost Benefit Analysis ◽  
Health Care Systems ◽  
Herd Immunity ◽  
Cost Benefit ◽  
Risk Groups ◽  
School Closures ◽  
Trade Offs ◽  
Care Systems

The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has caused the Coronavirus Disease 2019 (COVID-19) worldwide pandemic in 2020. In response, most countries in the world implemented lockdowns, restricting their population's movements, work, education, gatherings, and general activities in attempt to “flatten the curve” of COVID-19 cases. The public health goal of lockdowns was to save the population from COVID-19 cases and deaths, and to prevent overwhelming health care systems with COVID-19 patients. In this narrative review I explain why I changed my mind about supporting lockdowns. The initial modeling predictions induced fear and crowd-effects (i.e., groupthink). Over time, important information emerged relevant to the modeling, including the lower infection fatality rate (median 0.23%), clarification of high-risk groups (specifically, those 70 years of age and older), lower herd immunity thresholds (likely 20–40% population immunity), and the difficult exit strategies. In addition, information emerged on significant collateral damage due to the response to the pandemic, adversely affecting many millions of people with poverty, food insecurity, loneliness, unemployment, school closures, and interrupted healthcare. Raw numbers of COVID-19 cases and deaths were difficult to interpret, and may be tempered by information placing the number of COVID-19 deaths in proper context and perspective relative to background rates. Considering this information, a cost-benefit analysis of the response to COVID-19 finds that lockdowns are far more harmful to public health (at least 5–10 times so in terms of wellbeing years) than COVID-19 can be. Controversies and objections about the main points made are considered and addressed. Progress in the response to COVID-19 depends on considering the trade-offs discussed here that determine the wellbeing of populations. I close with some suggestions for moving forward, including focused protection of those truly at high risk, opening of schools, and building back better with a economy.

FOLFOX4/XELOX in stage II–III colon cancer: Efficacy results of the Italian three or six colon adjuvant (TOSCA) trial.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 3501-3501 ◽  
Author(s):  
Alberto F. Sobrero ◽  
Sara Lonardi ◽  
Gerardo Rosati ◽  
Maria Di Bartolomeo ◽  
Monica Ronzoni ◽  
...  
Keyword(s):  
Colon Cancer ◽  
High Risk ◽  
Health Care Systems ◽  
Standard Of Care ◽  
Stage Ii ◽  
Phase Iii ◽  
Stage Iii ◽  
Absolute Difference ◽  
Open Label ◽  
Care Systems

3501 Background: Six months of oxaliplatin-based treatment has been the standard of care as adjuvant therapy for stage III colon cancer and an accepted option for high-risk stage II. Given the cumulative neurotoxicity associated to oxaliplatin, a shorter duration of therapy, if equally efficacious, would be advantageous for patients and health-care systems. Methods: TOSCA was an open-label, phase III, multicenter, non-inferiority trial randomizing patients with high-risk stage II or stage III radically resected colon cancer to receive 3 months or 6 months of FOLFOX4/XELOX. Primary end-point was relapse-free survival. Results: From June 2007 to March 2013, 3759 patients were accrued from 130 Italian sites, 64% receiving FOLFOX4 and 36% XELOX in either arm. Two thirds were stage III. At the cut-off time for analysis the median time of follow-up was 62 months and 772 relapses or deaths have been observed. The RFS rate at 8 years is 75%. This analysis was done when 82% of the planned number of events was reached, with a power of 72% instead of 80%. The decision to anticipate the analysis was based on the participation to the IDEA joint collaborative analysis of studies sharing this clinical question. The Hazard Ratio of the 3months vs 6 months for relapse/death was 1.14 (95%CI 0.99-1.31, p for non inferiority = 0.253) and the confidence interval crossed the non inferiority limit of 1.20. Conclusions: TOSCA was not able to demonstrate that 3 months of oxaliplatin-based adjuvant treatment is as efficacious as 6 months. Nevertheless , because the absolute difference in RFS between the two treatment durations is small ( less than 3 % at 5 years ), the decision to complete the whole 6-month program should be individualized based on toxicity and patients’ attitude. This study is registered with ClinicalTrials.gov Registration Number: NCT00646607. It was supported by a grant from AIFA (Agenzia Italiana del Farmaco) Grant Code FARM5RWTWZ. Clinical trial information: NCT00646607.

Impact of the Global COVID-19 Pandemic on the Incidence, Presentation, and Management of Pediatric Appendicitis: Lessons Learned from the First Wave

2021 ◽  
Author(s):  
Kerstin Saalabian ◽  
Udo Rolle ◽  
Florian Friedmacher
Keyword(s):  
Pediatric Patients ◽  
Health Care Systems ◽  
Adult Population ◽  
Operative Management ◽  
Lessons Learned ◽  
Delayed Presentation ◽  
Relative Paucity ◽  
Care Systems ◽  
Individual Capacity ◽  
The Impact

AbstractThe fast-evolving nature of the coronavirus disease 2019 (COVID-19) pandemic has led to unprecedented clinical, logistical, and socioeconomical challenges for health-care systems worldwide. While several studies have analyzed the impact on the presentation and management of acute appendicitis (AA) in the adult population, there is a relative paucity of similar research in pediatric patients with AA. To date, there is some evidence that the incidence of simple AA in children may have decreased during the first lockdown period in spring 2020, whereas the number of complicated AA cases remained unchanged or increased slightly. Despite a worrying trend toward delayed presentation, most pediatric patients with AA were treated expediently during this time with comparable outcomes to previous years. Hospitals must consider their individual capacity and medical resources when choosing between operative and non-operative management of children with AA. Testing for severe acute respiratory syndrome coronavirus type 2 is imperative in all pediatric patients presenting with fever and acute abdominal pain with diarrhea or vomiting, to differentiate between multisystem inflammatory syndrome and AA, thus avoiding unnecessary surgery. During the further extension of the COVID-19 crisis, parents should be encouraged to seek medical care with their children early in order that the appropriate treatment for AA can be undertaken in a timely fashion.

A predictive model of pcsk-9 inhibitors eligibility in coronary and dyslipidemic patients

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
I Dima ◽  
D Soulis ◽  
D Terentes-Printzios ◽  
I Skoumas ◽  
K Aznaouridis ◽  
...  
Keyword(s):  
Health Care ◽  
Cardiovascular Risk ◽  
High Risk ◽  
Predictive Model ◽  
Health Care Systems ◽  
Clinical Status ◽  
Risk Groups ◽  
Funding Source ◽  
Private Company ◽  
Care Systems

Abstract Purpose Dyslipidemia is a major cardiovascular risk factor and treatment is mostly based on statins and ezetimibe. PCSK-9 inhibitors are monoclonal antibodies that reduce LDL-c levels and have shown significant reduction of cardiovascular risk in high risk patients. Data regarding potential eligibility for PCSK-9, is limited especially when referring to the recent guidelines. Methods Eligibility was calculated using a proprietary adjustable software, which stores data and patient information and thus by using different criteria it can determine potential candidates for PCSK-9 inhibitors. For this purpose, 2000 patients were enrolled prospectively. Our study population was comprised of inpatients diagnosed either with acute coronary syndromes (ACS) or with chronic coronary disease (cCAD) and outpatients from Lipids' Clinic (OLC) (n=407, n=1087, n=506, respectively). In order to test eligibility, three different LDL thresholds were used in our model for high and very high risk groups: a) 70mg/dl and 55mg/dl, respectively, as recommended by the recently updated 2019 ESC/EAS Guidelines for Dyslipidaemia b) 100mg/dl and 70mg/dl, respectively, as recommended by the 2016 ESC/EAS Guidelines for Dyslipidaemias and c) 130mg/dl and 100mg/dl respectively, as mandated by our National Health Care system but also applicable in other countries. Results The eligible percentages for the three thresholds were 18.85%, 9.75% and 2.15%, in the total population (TP) respectively and it varied according to clinical status. Subgroup analysis of eligible population revealed the trends in each group (Figure 1). The increase toward more recent guidelines was mostly attributed to the increasing number of coronary patients who become eligible as our criteria become stricter. Conclusions Our predictive model provides a realistic estimation of PCSK-9 inhibitors potential eligibility in coronary and dyslipidaemic patients and thus it can become a useful tool for the use of PCSK-9 in health care systems. Figure 1 Funding Acknowledgement Type of funding source: Private company. Main funding source(s): Amgen Hellas LTD

scholarly journals A Policy Impact Analysis of the Mandatory NCAA Sickle Cell Trait Screening Program

2011 ◽  
Vol 47 (1pt2) ◽  
pp. 446-461 ◽  
Author(s):  
Beth A. Tarini ◽  
Margaret Alison Brooks ◽  
David G. Bundy
Keyword(s):  
Sickle Cell ◽  
Impact Analysis ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Policy Impact

scholarly journals Perspectives on Building Sustainable Newborn Screening Programs for Sickle Cell Disease: Experience from Tanzania

2021 ◽  
Vol 7 (1) ◽  
pp. 12
Author(s):  
Daima Bukini ◽  
Siana Nkya ◽  
Sheryl McCurdy ◽  
Columba Mbekenga ◽  
Karim Manji ◽  
...  
Keyword(s):  
Health Care ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Health Care Systems ◽  
Comprehensive Care ◽  
Cell Disease ◽  
Care Services ◽  
Care Systems ◽  
Screening Services

The prevalence of sickle cell disease is high in Africa, with significant public health effects on the affected countries. Many of the countries with the highest prevalence of the disease also have poor health care systems and a high burden of infectious diseases with many other competing health care priorities. Although considerable efforts have been made to implement newborn screening for sickle cell disease programs in Africa, coverage is still low. Tanzania has one of the highest birth prevalence of children with sickle cell disease in Africa. In 2015, the country implemented a pilot project for Newborn Screening for Sickle Cell Disease to assess feasibility. Several efforts have been made afterwards to continue providing the screening services as well as related comprehensive care services. Using qualitative methods, we conducted in-depth interviews and focus group discussions with policy makers (n = 4), health care providers (n = 21) and families (n = 15) to provide an analysis of their experiences and perspectives on efforts to expand and sustain newborn screening for sickle cell disease and related comprehensive care services in the country. Thematic content analysis was used to analyze the data through the framework analysis method. The findings have demonstrated both the opportunities and areas that need addressing in the implementation and sustainability of the services in low resource settings. A key area of strengthening is full integration of the services in countries’ health care systems to facilitate the coverage, accessibility and affordability of the services. Although the coverage of newborn screening services for sickle cell disease is still low, efforts at the local level to sustain the implementation of the programs and related comprehensive care services are encouraging and can be used as a model for other programs implemented in low resources settings.

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