Vjosa Kotori

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA

Jasmin J Bennett, Thomas W. Laver, Jonna M. E. Männistö, Jayne A.L. Houghton et autres

BACKGROUND: A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variants are recognised as an underappreciated cause of monogenic disease but are technically challenging to detect, particularly in organ-specific conditions when affected tissue …

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Current Status of Newborn Screening in Southeastern and Central Europe

Nika Požun, Daša Perko, Violeta Anastasovska, Ivo Barić et autres

Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Central …

si, at, mk, hr, rs, mt, bg, gb, bd, gr, hu, xk, ba, me, ro, cy (code pays fourni par la source)

Current Status of Newborn Screening in Southeastern Europe

Vanesa Koračin, Matej Mlinarič, Ivo Barić, Ian Brincat et autres

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, …

si, hr, mt, rs, at, ro, xk, gr, bg, me, ba, hu (code pays fourni par la source)

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström, Shlomo Almashanu et autres

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible …

gr, se, be, gb, lu, mt, fr, nl, bg, ch, is, us, si, dk, xk, cz, fi, it, ee, rs, ro, de, ie, pl, hr, me, ba, lv, pt, es (code pays fourni par la source)

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

Tatiana Marusic, Urša Šuštar, Fouzia Sadiq, Vjosa Kotori et autres

Homozygous familial hypercholesterolaemia (HoFH) and compound heterozygous FH (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other FH-related genes. HoFH and cHeFH are characterized by severely elevated low-density lipoprotein-cholesterol (LDL-C), frequently leading to early cardiovascular …

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Celiac Disease in Kosovar Albanian Children: Evaluation of Clinical Features and Diagnosis

Atifete Ramosaj-Morina, Alije Keka-Sylaj, Arbana Baloku, Lıdvana Spahıu et autres

BACKGROUND: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. OBJECTIVES: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. METHODS: A cross-sectional …

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Role of omega-3 polyunsaturated fatty acids in gestational diabetes, maternal and fetal insights: current use and future directions

Brikene Elshani, Vjosa Kotori, Armond Daci

ω-3-Polyunsaturated fatty acids (ω-3 PUFAs) are widely used during pregnancy and gestational diabetes mellitus (GDM). ω-3 PUFAs are beneficial in the regulation of maternal and fetal metabolic function, inflammation, immunity, macrosomia (MAC), oxidative stress, preeclampsia, intrauterine growth, preterm birth, offspring metabolic function, …

xk (code pays fourni par la source)

Congenital Hyperinsulinism in Kosova

Vjosa Kotori, Afrim Kotori

The Influence of Type 1 Diabetes Mellitus on Dental Caries and Salivary Composition

Lulëjeta Ferizi, Fatmir Dragidella, Lıdvana Spahıu, Agim Begzati et autres

Diabetes mellitus is the most common chronic disease that affects the oral health. The aim of the study is to evaluate the dental caries, salivary flow rate, buffer capacity, and Lactobacilli in saliva in children with type 1 diabetes mellitus compared to …

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Prevalence of Gestational Diabetes Mellitus According to IADPSG and NICE Criteria

Josip Djelmiš, Mato Pavić, Vjosa Kotori, Ivana Pavlić Renar et autres

(Abstracted from Int J Gynecol Obstet 2016;135:250–254) Hyperglycemia during pregnancy leads to a plethora of complications such as preeclampsia, cesarean delivery, and increased perinatal mortality as well as adverse neonatal health conditions including long-term obesity and diabetes. However, there is disagreement regarding …

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Dental Caries Among Kosovar Children with Type 1 Diabetes Mellitus

Lulëjeta Ferizi, Vjosa Kotori, Agim Begzati, Lıdvana Spahıu et autres

Objective: To evaluate the oral health status in children with type 1 diabetes mellitus. Material and Methods: Dental examinations, based on World Health Organization caries diagnostic criteria for DMFT index for permanent dentition and survey were performed among 160 children, aged 10-15-year-old, …

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Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region

Marija Dimishkovska, Vjosa Kotori, Zoran Gucev, Светлана Кочева et autres

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan RegionFanconi anemia (FA) is a rare autosomal recessive or X-linked disorder which is the most frequent cause of inherited bone marrow failure (BMF) along with aplastic anemia (1).Despite the …

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