scholarly journals Current Status of Newborn Screening in Southeastern Europe

2021 ◽  
Vol 9 ◽  
Author(s):  
Vanesa Koracin ◽  
Matej Mlinaric ◽  
Ivo Baric ◽  
Ian Brincat ◽  
Maja Djordjevic ◽  
...  

Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bulgaria, Bosnia and Herzegovina (BIH), Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, and Slovenia) to assess the main characteristics of their NBS programs and their future plans. Their cumulative population at that time was ~52,5 million. At that time, none of the countries had an expanded NBS program, while phenylketonuria screening was not introduced in four and congenital hypothyroidism in three of 11 countries. We repeated the survey in 2020 inviting the same 11 countries, adding Cyprus, Greece, Hungary, and Malta (due to their geographical position in the wider region). The aims were to assess the current state, to evaluate the change in the period, and to identify the main obstacles impacting the implementation of expanded NBS and/or reaching a wider population. Responses were collected from 12 countries (BIH—Federation of BIH, BIH—Republic of Srpska, Bulgaria, Croatia, Greece, Hungary, Kosovo, North Macedonia, Malta, Montenegro, Romania, Serbia, Slovenia) with a population of 68.5 million. The results of the survey showed that the regional situation regarding NBS only modestly improved in this period. All of the surveyed countries except Kosovo screened for at least congenital hypothyroidism, while phenylketonuria was not screened in four of 12 countries. Croatia and Slovenia implemented an expanded NBS program using tandem mass spectrometry from the time of last survey. In conclusion, the current status of NBS programs in Southeastern Europe is very variable and is still underdeveloped (or even non-existent) in some of the countries. We suggest establishing an international task-force to assist with implementation and harmonization of basic NBS services where needed.

PEDIATRICS ◽  
1983 ◽  
Vol 72 (5) ◽  
pp. 741-745 ◽  
Author(s):  
◽  
Lynn M. Taussig ◽  
Thomas F. Boat ◽  
Delbert Dayton ◽  
Norman Fost ◽  
...  

Neonatal screening represents the search for a disorder in a general newborn population. The purpose of screening may be to improve the health of the affected infant, to provide counseling, or for research. Screening tests have been widely accepted for conditions such as phenylketonuria, hypothyroidism, and other metabolic conditions. Cystic fibrosis (CF) is the most common lethal genetic disorder among the white population (with a lower incidence among blacks), and thus there has been interest in screening newborns for CF1 However, proposals emanating from this interest have remained controversial.2-4 The recent development of a relatively simple test—the dried blood immuno-reactive trypsinogen (IRT) assay—has increased this interest.5-12 Besides considering technical reliability and validity of newborn screening methods, it is crucial that all other aspects of screening (including medical, ethical, psychosocial, and economic aspects) be rigorously examined before implementing mass screening.13-15 To address these issues the Cystic Fibrosis Foundation convened a Task Force on Neonatal Screening. Although the Task Force considered the current status of the IRT test, it focused on the generally accepted criteria for newborn screening, summarized in the Table,14 and the relationship of these criteria to the present state of knowledge related to CF. The issues identified by the Task Force, are summarized in this paper, and recommendations are presented at the conclusion. EFFECTIVENESS OF PRESYMPTOMATIC TREATMENT Evidence suggesting that the initiation of treatment before clinical manifestations of CF first appear improves prognosis has been controversial. Whereas some studies have yielded supportive data,16 others have not.4 There are no generally accepted treatment protocols for use in symptomatic or asymptomatic patients.


Author(s):  
Ye.Ye. Nikitin

The current situation in the sphere of district heating is analysed on the basis of use of the cognitive approach. The presence of closed chains of cause-effect relationships of negative factors and conflicts of target settings of the subjects in the field of district heating is shown. The conceptual model of energy efficient modernization of district heating systems is proposed. This model includes indicators of the current status of heat sources, networks and heat consumers, energetic and economic models, restrictions, procedure of forming and analysis of the mutual influence of the recommended projects. The quantitative data on indicators of the current state of district heating systems of the cities of Ukraine are presented. The interrelation between indicators of the current state and projects of energy efficient modernization of district heating systems is shown. Assessment of energy self-sufficiency of municipal district heating systems on condition of thermal modernization of buildings is carried out. The creation of energy management systems at the district heating enterprises is proposed. Bib. 6, Fig. 7, Tab. 5.


2019 ◽  
pp. 91-94
Author(s):  
T. M. Lysenko ◽  
V. Yu. Neshatayeva ◽  
Z. V. Dutova

The International conference “Flora and conservation in the Caucasus: history and current state of knowledge” dedicated to the 130-year anniversary of the Perkalsky Arboretum took place at 22–25 of May 2019 in Pyatigorsk (Stavropol Territory) on the base of the Pyatigorsk Museum of local lore and natural history. The participants were from 11 cities of Russia and 7 Republics of the Caucasus and represented 14 institutions. Proceedings of the conference were published by the beginning of the meeting the book of abstracts includes 49 papers on the study of vascular plants, bryophytes, lichens and fungi, plant communities, as well as the protection of rare and endangered species, unique plant communities, and ecological problems in the Caucasus. The following geobotanical topics were highlighted in 13 papers: forest communities (3 reports), meadow and steppe vegetation (2), xeric open forests (2), communities of ecotone areas (1), structure of populations of rare plant species (3), as well as the history and current status of nature protected areas (2). The great emphasis has been focused on the study of floristic composition and plant populations. Thus, the conference showed that very few studies от vegetation are currently carried out in the Caucasus, and a lot of districts are not affected by the research. The greatest attention is paid to forest vegetation while meadow, steppe, alpine heath and xerophytic communities are studied rather poorly. Besides, there are “white spots” — mire, floodplain and aquatic vegetation. In nowadays, when the anthropogenic impact on the plant cover of the Caucasus is intensively increasing, it is especially important to study natural undisturbed communities preserved in protected natural areas. Another important issue is the conservation of the unique vegetation cover of the whole Caucasus. Thus, the study of vegetation of this region opens a wide field for researchers using various methods of modern plant science.


Author(s):  
Vikas Rathee ◽  
Kapil Pihwal ◽  
Neelam Pawar ◽  
Sheikh Aamir ◽  
Mohammad Shahbaz Alam ◽  
...  

: Regulatory is the heart of the Pharmaceutical Industries which acts as an interface between the industries and government authorities for the growth and development of pharmaceutical industry system of their respective country. In 2017, India was a pharmaceutical country valued at USD (United States Dollar) 13 billion and accounting for 20 percent of worldwide exports, making the country the main supplier of generic drugs worldwide. Ministry of Chemicals and Fertilizers, the Department of Pharmaceutical Products said that the national pharmaceutical market's gross revenue reached approximately US $ 18.12 billion in 2018 (Rs 129,015), growing 9.4% year-on-year and export retention in 2018 was US $ 17.88 billion. 19.14 billion US$ in 2019. The Union Ministry of Health and Family Welfare has increased by 13.1 percent to Rs 61,398 crore (US $ 8.98 billion) in the Union Budget 2019-20. The Indian pharmaceutical market is facing many difficulties such as central and state regulatory compliance, data integrity, ethics committee in clinical trials, governmental control over the price of medicine, lack of research and so on. We are discussing in our article that top 10 pharmaceutical companies are doing business, their turnover in 2020 and challenge in today's era. We discuss future plans and solutions to problems, so that they can be ranked first in the world.


2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.


Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.


2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.


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