hrp0092p3-95 | Diabetes and Insulin | ESPE2019

Changes in the Microbiome of Pre-Type 1 Diabetic Children

Zhelyazkova Nikolina , Koleva Reni

Introduction: Type 1 Diabetes (T1D) is an autoimmune disease where β-cells of the pancreatic islets are destroyed. The vast majority of T1D cases are not due to genetic predisposition, implying that the prevalence is associated with environmental, nongenetic factors. One such factor is the microbiome and its correlation with T1D has been investigated in a multitude of studies.Aims: To investigate whether the curr...

hrp0095p2-187 | Growth and Syndromes | ESPE2022

Combination Down / Klinefelter syndrome - a Clinical Case

Koleva Reni , Popov Borislav , Nadegda Dimitrova , Ana Grigorova , Valeria Petrova

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

hrp0089p1-p257 | Thyroid P1 | ESPE2018

Results of the hTPO Mutational Screening in Bulgarian Patients with Congenital Hypothyroidism (CH)

Stoeva Iva , Mihova Kalina , Stoilov Boris , Koleva Reni , Mladenov Wilhelm , Iotova Violeta , Kaneva Radka

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

hrp0089p2-p388 | Thyroid P2 | ESPE2018

Clinical Course in a Girl with Two hTPO Mutations – Homozygous c.1268G>A (p.Gly393Arg) and Heterozygous c.208C>G (p.Ala70Pro): 27 Years of Follow Up

Stoeva Iva , Mihova Kalina , Koleva Reni , Zheliaskov Mitko , Stoilov Boris , Kaneva Radka

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...

hrp0089p1-p076 | Diabetes & Insulin P1 | ESPE2018

National Survey of Usage of Continuous Glucose Monitoring in Children and Adolescents at Non Reimbursed Setting

Bazdarska Yuliya , Iotova Violeta , Mladenov Vilhelm , Boyadzhiev Veselin , Petrova Chayka , Halvadjian Irina , Savova Radka , Popova Galina , Koleva Reni , Moskova Mariyana , Kaleva Nartsis , Nedyalkova Diana

Background: Continuous glucose monitoring (CGM) correlates with optimal control in both children and adults with type 1 diabetes (T1D) regardless of type of treatment. CGM plays a major role in decreasing the time spent in hypoglycemia and hyperglycemia, and achieving better quality of life.Aim: To evaluate the usage and benefits of out-patient CGM and assess parentsÂ’ attitudes to it at a non-reimbursed setting.Methods: A tota...