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RISS 인기검색어
- 검색키워드
- 저자 : ( Igor Reshetnikov ) (검색결과 3 건)
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Poster Session : PS 0460 ; Genetics ; Problems in Differential Diagnostics of Rare Genetic Disorders
( Natalya Volkova ),( Ilya Davidenko ),( Maria Antonenko ),( Igor Reshetnikov ),( Julia Rudakova ),( Irina Dzherieva ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on paternal chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion). The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. There are many signs and symptoms of PWS. The variety of symptoms can range from poor muscle tone during infancy to behavioral problems in early childhood. Clinical case: A 16-year patient presented with complaints on delayed sexual development. Also he had nonspecific symptoms as like increased appetite, rapid fatigability, headaches, dizziness, syncopes, and increased irritability. Past history did not include any information about delayed sexual development. Also medical history demonstrated muscle weakness, decreased sucking refi ex and weight loss before 2 years age. Thereafter, all symptoms disappeared, and reverse symptoms as like polyphagia and increased appetite developed. During the whole period of a disease patient were examined by various specialists, but nobody observed signs and symptoms of delayed sexual development. Physical examination revealed adult woman pattern of hair distribution, testicular hypoplasia and obesity (BMI 42,5 kg/m2). Also patient had acromicria and mental defi ciency. Further, laboratory examination revealed decreased testosterone, LH and FSH. Thus, secondary hypogonadism was diagnosed. Also psychiatrist proved decreased IQ level. Based on all clinical signs and symptoms there were supposed that secondary hypogonadism is a part of some genetic disorder. Further, geneticist established karyotype 46 ХУ with 15q-11-13. As result PWS was diagnosed. Symptomatic treatment, like chorionic gonadotropin, dietotherapy, physical activity and home schooling wasprescribed. Conclusions: This clinical case demonstrates that there is no systematic diagnostics of rare genetic disorders. PWS is multidisciplinary problem that is needed special attention of various specialists. Any symptom as like secondary hypogonadism could be PWS clinical presentations
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( Ilya Davidenko ),( Natalya Volkova ),( Maria Antonenko ),( Igor Reshetnikov ),( Julia Rudzkova ),( Irina Dzherieva ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Lipohypertrophy (LH) is a chronic complication of diabetes mellitus that is caused by frequent subcutaneous injections of insulin. Nowadays, visual appearance of LH is less obvious due to good quality insulin and expansion their concentration. As a result, some diffi culties of it`s diagnostics have been appeared. The aim of this study has been to develop the estimation risk model of insulin induced LH in diabetic patients. Methods: This study was done on 140 diabetic patients who had been under the treatment with insulin a mean 8 years. Ultrasonography of subcutaneous fat were used in assessing LH in these diabetics. All patients were divided into two groups. First group included 117 patients with LH, second - 23 diabetics without LH. Further, all LH risk factors were statistically processed using Spearman`s, Kendall tau, Gamma rank correlation coeffi cients and binary logistic regression. Results were statistically signifi - cant when p<0,05. Also measure AUC was determined. Results: All risk factors were analyzed using correlation coeffi cients on fi rst stage. Statistically insignificant parameters were eliminated (p>0,05). 10 factors from 23 were remained after fi rst stage. Further, 10 parameters were subjected to ROC-analysis. Measure AUC was determined. All risk factors had high predictive value (AUC > 0,5). On the basis of binary logistic regression the estimation risk model was created on next stage. Predictive value of model was 86% taking into account threshold cutoff 0,3 and confi dence interval 95%. Effi cacy of estimation risk model were tested on 34 diabetic patients. Conclusions: LH remains severe insulinotherapy complication. Since there is no any LH treatment, its early diagnostics is absolutely necessary for diabetic patients. Thus, we developed new noninvasive painless method of LH diagnostic with good quality and high predictive value (86%) for patients who are under the treatment with insulin.
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( Maria Antonenko ),( Natalia Volkova ),( Ilya Davidenko ),( Igor Reshetnikov ),( Irina Dzherieva ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: There has been proven high prevalence of mild Cushing Syndrome (CS) among patients with obesity. Approach to screening couldn`t be based on specific signs of hypercortisolism in this case. Thus, search of potential opportunities of optimization of screening for mild CS is of great importance. Methods: There were performed a retrospective analysis of 198 patients with obesity, among whom 6 had proved diagnosis of CS and 192 had suspected but not proved diagnosis CS. Noone had specific signs of CS. In order to develop statistic model that allows to estimate the probability of CS presence there was used logistic regression. As potential predictors there were chosen age, BMI, waist circumflex, total cholesterin, triglycerides, lipoproteins low density, fasting plasma glucose, systolic and diastolic blood pressure. In order to assess the efficacy of developed model, there was further tested on 6 patients with mild CS and 54 patients with suspected but not proved CS. Results: There was developed the logit regression equation with waist circumflex, total cholesterin and fasting plasma glucose as predictors. The percent concordance made 98,8%. Force of communication of the fact and prediction according to D-Zomer was 0,975. Reclassification of case observations with developed equation showed the following: 1 patient with CS had 7% probability to have CS whereas other 5 patients with CS had probability more than 83% to have CS. 50 patients without CS had probability to have CS less than 7%; 4 patients - no more 38%. Since screening model should have greater sensitivity than specificity, the probability of CS 7% was chosen as a threshold Conclusions: Great advantages of such kind of models is a objective selection of patients, standardization of a technique and lack of need for additional financial expenses for its use.
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