Krikščiūnienė, Rūta

Algoritmas (lot. algorismus

„Endokrinologija. II dalis. Cukrinis diabetas“ – vadovėlis, kuriame specialistai pateikia išsamią ir aktualią informaciją apie vaikų ir suaugusiųjų endokrininę sistemą bei jos sutrikimus. Knygoje aptariama endokrininė reguliacija, kuri yra bene svarbiausia endokrininės sistemos funkcija, žinomiausias medžiagų apykaitos sutrikimas – cukrinis diabetas, nurodomos ir analizuojamos hipofizės, antinksčių, skydliaukės, reprodukcinės sistemos ligos, kalcio apykaitos ir lyties vystymosi sutrikimai. Gvildenamos aktualios augimo ir brendimo, nutukimo, hipoglikemijos bei hiponatremijos temos. Taip pat aptariami neuroendokrininiai navikai, priklausantys retų ir nevienalyčių navikų grupei, bei dinaminiai mėginiai endokrininių ligų diagnostikoje. „Endokrinologija. II dalis. Cukrinis diabetas“ – būtina priemonė endokrinologams, endokrininės sistemos chirurgams, ginekologams, pediatrams ir kitiems gydytojams, kuriems reikalinga išsami informacija apie šią daugialypę sritį.

„Endokrinologija. I dalis. Bendroji endokrinologija“ – vadovėlis, kuriame specialistai pateikia išsamią ir aktualią informaciją apie vaikų ir suaugusiųjų endokrininę sistemą bei jos sutrikimus. Knygoje aptariama endokrininė reguliacija, kuri yra bene svarbiausia endokrininės sistemos funkcija, žinomiausias medžiagų apykaitos sutrikimas – cukrinis diabetas, nurodomos ir analizuojamos hipofizės, antinksčių, skydliaukės, reprodukcinės sistemos ligos, kalcio apykaitos ir lyties vystymosi sutrikimai. Gvildenamos aktualios augimo ir brendimo, nutukimo, hipoglikemijos bei hiponatremijos temos. Taip pat aptariami neuroendokrininiai navikai, priklausantys retų ir nevienalyčių navikų grupei, bei dinaminiai mėginiai endokrininių ligų diagnostikoje. „Endokrinologija. I dalis. Bendroji endokrinologija“ – būtina priemonė endokrinologams, endokrininės sistemos chirurgams, ginekologams, pediatrams ir kitiems gydytojams, kuriems reikalinga išsami informacija apie šią daugialypę sritį.

Algoritmas (lot. algorismus

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females. Case Presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy and had regular menstrual cycles (MC 28/5). Physical examination at age 18 showed: weight 50 kg, final height 151,7 cm, BMI 21,92 kg/m², pubertal stage P5, B5. Patient did not have any cardiovascular or other organ pathologies neither before nor after pregnancies. After withdrawal of hormonal therapy she continued to have regular menstrual cycles (MC 30/5). Woman conceived naturally at 22, 24 and 28 years. All three newborns were born at full-term by cesarean section due to fetopelvic disproportion. 1st child, a girl, was born healthy, weighing 3460 g. Subsequent growth and development were normal. 2nd child, a boy, was born healthy, with 3660 g. He was diagnosed with growth retardation at age 3 but did not require treatment with growth hormone. 3rd child, a boy, was born weighting 4160 g. He was diagnosed with cleft lip and cleft palate at birth. These malformations were repaired by surgery. No maternal or pregnancy complications were detected. Conclusions: Pregnancy and child bearing in TS can be particularly challenging due to maternal and neonatal complications. All TS pregnancies should be under multidisciplinary supervision during pregnancy and after delivery.

Objective: Growth hormone (GH) and sex hormone replacement therapy (SHRT) are standard treatment for patients with Turner syndrome (TS) that enhances bone mineral density (BMD), puberty, and quality of life. We aimed to evaluate the efficacy of SHRT and GH on BMD in TS patients. Methods: Cross-sectional study was performed in LUHS Kauno Klinikos in 2014-2018. 27 females with TS were enrolled. BMD and Z score of the lumbar vertebrae and femur were measured by dual - energy X-ray absorptiometry (DEXA) and compared between these groups: users and non-users of SHRT; natural estrogen (NE) users vs. combined oral contraceptive pills (COC’s) users; initiated with SHRT <15 years vs. >15 years; patients who received treatment with GH vs. not treated; patients who had and did not have spontaneous puberty. Results: BMD and Z score of femur was higher in patients who did not use SHRT (BMD 0,9 (0,81 – 1,12) vs. 0,81 (0,58 – 1,04), p=0,049; Z score -0,2 (-0,9 – 2,3) vs. -1 (-2,9 – 0,8), p=0,049). No significant differences in BMD and Z score depending on SHRT initiation (<15; >15 years), between NE and COC’s users (p>0,05) were found. Femur BMD and Z score were higher in patients who underwent spontaneous puberty (BMD 0,91 (0,73 – 1,2) vs. 0,81 (0,58 – 1,04), p=0,038, Z score -0,15 (-1,7 - 2,3) vs. -1 (-2,9 – 0,8) p=0,036). No significant differences were found between users and non-users of GH (p>0,05). Conclusions: SHRT and GH did not influence BMD in females with TS. Spontaneous puberty had positive effect on BMD.

Introduction. Turner syndrome (TS) is assigned to the rare diseases group. Morbidity and mortality of TS patients are high, particularly due to the cardiovascular disorders, so monitoring for cardiovascular complications must be ensured. The data demonstrate a strong correlation between 2-dimensional echocardiographic (2Decho) evaluation and magnetic resonance imaging (MRI); still, according to recent guidelines, MRI remains a gold standard. In this study, we aimed to compare aortic dimensions on MRI and 2Decho in TS patients. Methods. 50 TS patients (≥18 years) were enrolled into the cross-sectional study. 2Decho and MRI were performed. The measurements of the aorta were assessed in five standard positions on 2Decho and in 9 standard positions on MRI; ASI (aortic size index) of the ascending aorta was calculated since reduced adult height is observed in TS patients. Results. ASI on echocardiography strongly correlated with ASI on MRI in all positions of the ascending aorta, but significantly larger medians of ASI were found on 2Decho in all positions of the ascending aorta and arch when compared with MRI measurements. Still, the prevalence of aortic sinus dilation was significantly and more frequently (52% vs. 38%, ) observed on MRI when compared with 2Decho. Conclusion. The relation of aortic size was significant in all positions when comparing the MRI and 2Decho methods; still, the dilatation of the sinus of aorta was more frequently found on MRI compared with echocardiography.

[...]. Darbo tikslas ir uždaviniai. Darbo tikslas Nustatyti kardiometabolinių, hormoninių ir genetinių veiksnių sąsajas su aortos dilatacijos išsivystymu, kai yra diagnozuotas Ternerio sindromas. Uždaviniai 1. Radiologiniais tyrimais (dvimatė širdies echoskopija, magnetinio rezonaso tomografija) įvertinti aortos dilatacijos dažnį , kai yra Ternerio sindromas. 2. Įvertinti įgimtų širdies ir kraujagyslių ligų sąsajas su aortos dilatacija, kai yra diagnozuotas Ternerio sindromas. 3. Įvertinti antropometrinių parametrų, metabolinių sutrikimų ir hormonų disbalanso ryšį su aortos dilatacija, kai yra Ternerio sindromas. 4. Palyginti Fibrilino-1 geno vieno nukleotido polimorfizmo (rs10519177 ir rs211818) papilitimo dažnį moterims, kai yra ir nėra Ternerio sindromo. 5. Nustatyti svarbiausius aortos dilataciją prognozuojančius veiksnius, kai yra diagnozuotas Ternerio sindromas. [...].

Introduction: Turner syndrome (TS) is assigned to rare diseases group caused by a complete or partial loss of the second X chromosome (45, X0). Dilation of the ascending aorta is the most common acquired abnormality of TS patients. It has been proven that magnetic resonance imaging (MRI) is a golden standard in the diagnosis of cardiovascular complications in TS patients. However, in most cases 2 dimensional echocardiography (2DEcho) is performed as reliable diagnostic test for a primary diagnosis of cardiovascular disorders. The aim: To compare dimensions of the aortic root and the ascending aorta measured by 2DEcho and MRI and to determine relation of these methods in diagnosing dilation of the aorta. Methods: In this cross sectional study we included all patients with genetically confirmed Turner syndrome followed up at the Hospital of Lithuanian University of Health Sciences, between 2014 and 2017. The sample consisted of 50 (n=50) TS patients. Maximal diameter of the sinuses of Valsalva (M1), diameter of the sinotubular junction (M2), and the proximal ascending aorta (M3) were measured by 2D Echo at an end-diastole. The size of the ascending aorta and the aortic root also was measured by MRI in different positions: in the aortic sinuses (D1), in the sinotubular junction (D2), in the ascending aorta at the bottom edge of the right pulmonary artery (D3), in the ascending aorta at the right proximal brachiocephalic artery (D4). In patients with TS, aortic dilatation is defined as ASI ≥ 20 mm/m². Results: 50 TS patients were enrolled into the study, mean age 29,7±8.2, range 18 - 60 years. Basic characteristics of the participants are mean weight 57,14±11,68 (32 – 81) kg, mean height 152,14±6,49 (137 – 169) kg and mean BMI 24,57±4,84 kg/m. ASI on echocardiography strongly correlated with ASI on MRI of the ascending aorta in all positions (Table1). The dimensions of aortic sinuses did not differ com. [...].

AIM: To identify the main predictors of the enlargement of ascending aorta and to assess the possible relation between reduced bone mineral density and a diameter of ascending aorta in the specific Turner syndrome (TS) population. METHODS: 50 adult females diagnosed with TS have been enrolled into the cross-sectional study. Dimensions of ascending aorta have been measured in four positions using thoracic magnetic resonance imaging, aortic size index (ASI) has been calculated. BMD has been assessed on dual - energy - X ray absorptiometry (DXA) in 1 - 4 lumbar vertebrae and neck of the femur. According to Z score on DXA two groups have been formed: a group of patients with normal BMD and a group with reduced BMD. Metabolic parameters and the measurements of ascending aorta have been compared between the two groups. RESULTS: Extremely high rate of the dilatation of the root of aorta (up to 50 %) was identified in this study. The larger ASI has been found in patients with reduced BMD, negative relation between BMD and ASI has been identified, although after the adjustment for SHRT this correlation remained insignificant. In the multivariate analysis, the main factors affecting ASI were age, body surface area and bicuspid aortic valve. CONCLUSIONS: The main factors associated with the enlargement of ascending aorta in Turner syndrome were age, body surface area and bicuspid aortic valve, the relation between diameter of ascending aorta and bone mineral density was not identified.