Pub Date : 2023-11-17DOI: 10.18786/2072-0505-2023-51-034
N. A. Potemkina, M. G. Glezer, P. A. Zeynalova, P. Chomakhidze, A. I. Novikova, G. Petrova, Maria G. Poltavskaya
Background: High dose chemotherapy (HDCT) preceding autologous hematopoietic stem cell transplantation (autoSCT) can be toxic for cardiovascular system, which can be mediated with the development of endothelial dysfunction. No studies on the assessment of arterial stiffness and endothelial function after HDCT and autoSCT have been performed before. Aim: To evaluate endothelial function and arterial rigidity parameters by photoplethysmography in patient candidates for HDCT with autoSCT, to identify associated factors and to analyze changes of these parameters over time after HDCT and autoSCT. Materials and methods: In this cohort prospective observational study in 71 patients with verified hemoblastosis (mean age 43.8 ± 12.6 years) we assessed endothelial function and stiffness by photoplethysmography (AngioScan-01, Russia) before and after HDCT with autoSCT. Thirty two (32, 45%) patients had multiple myeloma (ММ), 39 (55%), lymphoproliferative disorders (LPD). We measured the stiffness index (SI), reflection index (RI), augmentation index normalized by heart rate of 75 beats per minute (AIp75) and performed the occlusion test with measurement of occlusion index (ОI) and phase shift (PS). Results: Mean RI in the total study group before HDCT with autoSCT was increased to RI 34.9% [24.5; 50.6], OI decreased to OI 1.5 [1.25; 1.80], and PS module decreased to PS 6.7 ms [3.9; 8.9]. After HDCT with autoSCT the PS module increased to 8.4 ms [5.0; 12.4] (p = 0.001) and OI increased to 1.7 [1.3; 2.2] (p = 0,007), which indicates an improvement in endothelial function. Changes in other parameters of arterial function were non-significant. We also analyzed a selected group of the patients with MM who had higher cardiovascular risk, compared to the LPD patients: they were older (53 vs 36.1 years; p 0.001), had higher rates of arterial hypertension (p 0.001) and diabetes mellitus (p = 0.048). Compared to the LPD patients, the MM patients had higher baseline values of SI (7.5 m/s [7.3; 7.9]), RI (42.9% [32.1; 53.6]), and AIp75 (6.3% [-1.65; 13.8]), indicating higher vascular stiffness. They also had lower PS module values (5.0 ms [2.1; 8.5]). The LPD patients had been more frequently treated with anthracyclines (p 0.001) and radiation (p = 0.002). After HDCT with autoSCT, they had a higher increment of OI, namely, from 1.4 [1.3; 1.8] to 1.7 [1.4; 2.1] (p = 0.003). Conclusion: This study was the first to show a high rate of endothelial dysfunction and vascular stiffness abnormalities in patients with hemoblastoses who were candidates for HDCT with autoSCT. After HDCT with autoSCT, changes of endothelial function and stiffness were multidirectional. Despite a significant improvement, endothelial function parameters were not normalized. We were unable to find any predictors of the abnormalities. Thus, the identified baseline abnormalities in stiffness and endothelial function cannot be a contraindication to HDCT with autoSCT.
{"title":"Arterial structure and function in patients with hemoblastoses before and after high-dose chemotherapy and autologous hematopoietic stem cell transplantation","authors":"N. A. Potemkina, M. G. Glezer, P. A. Zeynalova, P. Chomakhidze, A. I. Novikova, G. Petrova, Maria G. Poltavskaya","doi":"10.18786/2072-0505-2023-51-034","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-034","url":null,"abstract":"Background: High dose chemotherapy (HDCT) preceding autologous hematopoietic stem cell transplantation (autoSCT) can be toxic for cardiovascular system, which can be mediated with the development of endothelial dysfunction. No studies on the assessment of arterial stiffness and endothelial function after HDCT and autoSCT have been performed before. Aim: To evaluate endothelial function and arterial rigidity parameters by photoplethysmography in patient candidates for HDCT with autoSCT, to identify associated factors and to analyze changes of these parameters over time after HDCT and autoSCT. Materials and methods: In this cohort prospective observational study in 71 patients with verified hemoblastosis (mean age 43.8 ± 12.6 years) we assessed endothelial function and stiffness by photoplethysmography (AngioScan-01, Russia) before and after HDCT with autoSCT. Thirty two (32, 45%) patients had multiple myeloma (ММ), 39 (55%), lymphoproliferative disorders (LPD). We measured the stiffness index (SI), reflection index (RI), augmentation index normalized by heart rate of 75 beats per minute (AIp75) and performed the occlusion test with measurement of occlusion index (ОI) and phase shift (PS). Results: Mean RI in the total study group before HDCT with autoSCT was increased to RI 34.9% [24.5; 50.6], OI decreased to OI 1.5 [1.25; 1.80], and PS module decreased to PS 6.7 ms [3.9; 8.9]. After HDCT with autoSCT the PS module increased to 8.4 ms [5.0; 12.4] (p = 0.001) and OI increased to 1.7 [1.3; 2.2] (p = 0,007), which indicates an improvement in endothelial function. Changes in other parameters of arterial function were non-significant. We also analyzed a selected group of the patients with MM who had higher cardiovascular risk, compared to the LPD patients: they were older (53 vs 36.1 years; p 0.001), had higher rates of arterial hypertension (p 0.001) and diabetes mellitus (p = 0.048). Compared to the LPD patients, the MM patients had higher baseline values of SI (7.5 m/s [7.3; 7.9]), RI (42.9% [32.1; 53.6]), and AIp75 (6.3% [-1.65; 13.8]), indicating higher vascular stiffness. They also had lower PS module values (5.0 ms [2.1; 8.5]). The LPD patients had been more frequently treated with anthracyclines (p 0.001) and radiation (p = 0.002). After HDCT with autoSCT, they had a higher increment of OI, namely, from 1.4 [1.3; 1.8] to 1.7 [1.4; 2.1] (p = 0.003). Conclusion: This study was the first to show a high rate of endothelial dysfunction and vascular stiffness abnormalities in patients with hemoblastoses who were candidates for HDCT with autoSCT. After HDCT with autoSCT, changes of endothelial function and stiffness were multidirectional. Despite a significant improvement, endothelial function parameters were not normalized. We were unable to find any predictors of the abnormalities. Thus, the identified baseline abnormalities in stiffness and endothelial function cannot be a contraindication to HDCT with autoSCT.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"59 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139263591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-17DOI: 10.18786/2072-0505-2023-51-035
A. N. Stafeev, Nadezhda I. Logvinenko, S. Astrakov
Background: Patients with treatment-resistant hypertension have a worse cardiovascular prognosis compared to those who achieve their target levels of blood pressure (BP). One of biochemical and clinical markers of a decreased response to antihypertensive therapy can be asymmetric dimethylarginine (ADMA), a molecule that reduces formation of nitric oxide and promotes endothelial dysfunction and vasoconstriction. Aim: To assess the status of the nitrogen oxide synthesis system and clinical and laboratory profile in patients, depending on the hypertensive disease stage, who achieved or not achieved their target BP levels during hospitalization. Materials and methods: We performed аn observational retrospective uncontrolled study in a consecutive sample of 192 patients aged 45–65 years who were admitted to the City Clinical Hospital No. 25 (city of Novosibirsk) with a diagnosis of uncomplicated hypertensive crisis. On the day of discharge, the patients were retrospectively divided into 2 groups. Group 1 included patients who achieved their target BP during hospitalization (target BP group, n = 116). Group 2 included patients with uncontrolled hypertension, in whom the administration of three antihypertensive drugs including a diuretic in optimal or maximal tolerated doses did not result in the achievement of the target BP below 140 and/or 90 mm Hg during hospitalization (non-target BP group, n = 76). The following parameters were measured: ADMA, symmetrical dimethylarginine (SDMA), N-monomethyl-L-arginine (NMMA), and total nitric oxide. Results: Serum ADMA concentrations (Me [Q25%; Q75%] were increasing with the stage of hypertension: stage I, 0.75 µmol/L [0.66; 0.78], stage II, 1.14 µmol/L [0.87; 1.39], stage III, 1.38 µmol/L [1.22; 1.49] (p 0.0001, Kruskal-Wallis test). In the pairwise comparison, the difference between all these subgroups was significant at p 0.01. In the patients with uncontrolled arterial hypertension ADMA levels were increased compared to those in the target BP group: 1.2 µmol/L [0.99; 1.47] vs 1.07 [0.79; 1.34] µmol/L (p = 0.002). The proportion of patients with type 2 diabetes mellitus among those with uncontrolled arterial hypertension was 31.2% (24/76), while in the target BP group there were only 3.5% of such patients (4/116) (odds ratio 12.57, 95% confidence interval 4.15–38.05; p = 0.00001). Conclusion: ADMA measurement may help identify patients with a potential poor response to antihypertensive therapy. This should be taken into account when choosing a treatment regimen and BP monitoring. In addition, ADMA seems to be a promising target for the development of new drug classes.
{"title":"The relationship of asymmetric dimethylarginine levels with uncontrolled arterial hypertension and hypertension disease stage","authors":"A. N. Stafeev, Nadezhda I. Logvinenko, S. Astrakov","doi":"10.18786/2072-0505-2023-51-035","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-035","url":null,"abstract":"Background: Patients with treatment-resistant hypertension have a worse cardiovascular prognosis compared to those who achieve their target levels of blood pressure (BP). One of biochemical and clinical markers of a decreased response to antihypertensive therapy can be asymmetric dimethylarginine (ADMA), a molecule that reduces formation of nitric oxide and promotes endothelial dysfunction and vasoconstriction. Aim: To assess the status of the nitrogen oxide synthesis system and clinical and laboratory profile in patients, depending on the hypertensive disease stage, who achieved or not achieved their target BP levels during hospitalization. Materials and methods: We performed аn observational retrospective uncontrolled study in a consecutive sample of 192 patients aged 45–65 years who were admitted to the City Clinical Hospital No. 25 (city of Novosibirsk) with a diagnosis of uncomplicated hypertensive crisis. On the day of discharge, the patients were retrospectively divided into 2 groups. Group 1 included patients who achieved their target BP during hospitalization (target BP group, n = 116). Group 2 included patients with uncontrolled hypertension, in whom the administration of three antihypertensive drugs including a diuretic in optimal or maximal tolerated doses did not result in the achievement of the target BP below 140 and/or 90 mm Hg during hospitalization (non-target BP group, n = 76). The following parameters were measured: ADMA, symmetrical dimethylarginine (SDMA), N-monomethyl-L-arginine (NMMA), and total nitric oxide. Results: Serum ADMA concentrations (Me [Q25%; Q75%] were increasing with the stage of hypertension: stage I, 0.75 µmol/L [0.66; 0.78], stage II, 1.14 µmol/L [0.87; 1.39], stage III, 1.38 µmol/L [1.22; 1.49] (p 0.0001, Kruskal-Wallis test). In the pairwise comparison, the difference between all these subgroups was significant at p 0.01. In the patients with uncontrolled arterial hypertension ADMA levels were increased compared to those in the target BP group: 1.2 µmol/L [0.99; 1.47] vs 1.07 [0.79; 1.34] µmol/L (p = 0.002). The proportion of patients with type 2 diabetes mellitus among those with uncontrolled arterial hypertension was 31.2% (24/76), while in the target BP group there were only 3.5% of such patients (4/116) (odds ratio 12.57, 95% confidence interval 4.15–38.05; p = 0.00001). Conclusion: ADMA measurement may help identify patients with a potential poor response to antihypertensive therapy. This should be taken into account when choosing a treatment regimen and BP monitoring. In addition, ADMA seems to be a promising target for the development of new drug classes.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139264787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-10DOI: 10.18786/2072-0505-2023-51-024
D. V. Gubina, E. Prokopenko, I.G. Nikol’skaya
Background: In the recent years, pregnancy outcomes in women with primary chronic glomerulonephritis (CGN) have been encouraging despite increased incidence of complications and preterm birth. However, the impact of pregnancy on CKD progression in glomerulonephritis remains understudied. Aim: To evaluate the effect of pregnancy on CKD progression in the postpartum period in patients with primary CGN. Materials and methods: This was an observational longitudinal study. The study group included 40 patients with CGN and CKD G1G3b, who had 40 deliveries from January 2009 to November 2022. The control group included 35 patients with CGN who had no pregnancies after CKD was diagnosed. Serum creatinine and estimated glomerular filtration rate (GFR) were assessed during the follow up, recording the development of CKD G5. Results: The annual rate of GFR decline in the study group was -4.6 [-8.0; -2.5] ml/min/1.73 m2, and in the control group -1.8 [-5.8; +1.5] ml/min/1.73 m2 (p = 0.056). After complicated pregnancy (preeclampsia, placental insufficiency, increase in proteinuria, worsening of arterial hypertension, acute kidney injury), the annual rate of GFR decline was -6.4 [-13.4; -3.5] ml/min/1.73 m2, which was higher than in the controls (p = 0.042). There were no significant differences in survival without GFR decrease by 30%, 50% and without CKD G5 between the study and the control groups. However, CKD G5-free survival in the patients with complicated pregnancy was lower than that in the controls (p = 0.022) and in those with uncomplicated pregnancies (p = 0.009). Eleven (11) of 40 patients in the main group and 3/35 in the control group reached CKD G5. The time from delivery to CKD G5 was 4.83 [2.08; 7.07] years. Among women who reached end-stage renal failure after childbirth, there were significantly more patients with CKD G3, proteinuria 1 g/day during pregnancy, arterial hypertension at baseline and during pregnancy, preeclampsia, acute kidney injury, delivery at less than 37 weeks of gestation, with neonates requiring treatment at intensive care unit, and unfavorable pregnancy outcomes. Conclusion: Renal survival in the women with primary CGN who had been pregnant was not significantly different from that in the women who did not have pregnancies; however, complicated pregnancy increased the rate of kidney function decline.
{"title":"Postpartum progression of chronic kidney disease in patients with chronic glomerulonephritis","authors":"D. V. Gubina, E. Prokopenko, I.G. Nikol’skaya","doi":"10.18786/2072-0505-2023-51-024","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-024","url":null,"abstract":"Background: In the recent years, pregnancy outcomes in women with primary chronic glomerulonephritis (CGN) have been encouraging despite increased incidence of complications and preterm birth. However, the impact of pregnancy on CKD progression in glomerulonephritis remains understudied. \u0000Aim: To evaluate the effect of pregnancy on CKD progression in the postpartum period in patients with primary CGN. \u0000Materials and methods: This was an observational longitudinal study. The study group included 40 patients with CGN and CKD G1G3b, who had 40 deliveries from January 2009 to November 2022. The control group included 35 patients with CGN who had no pregnancies after CKD was diagnosed. Serum creatinine and estimated glomerular filtration rate (GFR) were assessed during the follow up, recording the development of CKD G5. \u0000Results: The annual rate of GFR decline in the study group was -4.6 [-8.0; -2.5] ml/min/1.73 m2, and in the control group -1.8 [-5.8; +1.5] ml/min/1.73 m2 (p = 0.056). After complicated pregnancy (preeclampsia, placental insufficiency, increase in proteinuria, worsening of arterial hypertension, acute kidney injury), the annual rate of GFR decline was -6.4 [-13.4; -3.5] ml/min/1.73 m2, which was higher than in the controls (p = 0.042). There were no significant differences in survival without GFR decrease by 30%, 50% and without CKD G5 between the study and the control groups. However, CKD G5-free survival in the patients with complicated pregnancy was lower than that in the controls (p = 0.022) and in those with uncomplicated pregnancies (p = 0.009). \u0000Eleven (11) of 40 patients in the main group and 3/35 in the control group reached CKD G5. The time from delivery to CKD G5 was 4.83 [2.08; 7.07] years. Among women who reached end-stage renal failure after childbirth, there were significantly more patients with CKD G3, proteinuria 1 g/day during pregnancy, arterial hypertension at baseline and during pregnancy, preeclampsia, acute kidney injury, delivery at less than 37 weeks of gestation, with neonates requiring treatment at intensive care unit, and unfavorable pregnancy outcomes. \u0000Conclusion: Renal survival in the women with primary CGN who had been pregnant was not significantly different from that in the women who did not have pregnancies; however, complicated pregnancy increased the rate of kidney function decline.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76351921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-02DOI: 10.18786/2072-0505-2023-51-021
N. V. Marchenko, D. Y. Novokshonov, Mariia A. Irikova, E. Y. Shevchenko, D. L. Dubitsky, V. Voitenkov, A. Alkhazishvili, E. Skripchenko
Facial neuropathy (FN) is a complex multicausal problem that, with a seemingly obvious clinical picture, might be challenging to diagnose. Up to 5% of FN cases could be caused by neoplastic or otogenic processes, necessitating an interdisciplinary approach to its treatment by various specialties and in some cases a surgical intervention. In addition, in the early stages of FN, it is difficult to predict its outcomes. Therefore, beyond usual neurological exam and widely used electromyography (EMG), other additional diagnostic tools are used to ensure extended diagnosis, including cancer awareness. In this paper we have analyzed the principles, role and value of computed tomography, magnetic resonance imaging (MRI), diagnostic transcranial magnetic stimulation combined with EMG, and ultrasound assessment with a high-frequency linear transducer in acute FN. We present our own clinical cases of pediatric patients with FN, who were assessed with EMG and multiparametric MRI including diffusion tensor imaging. These cases illustrate both the abnormalities found in the typical course of Bell's palsy, as well as the abnormalities in neoplasm-associated FN that clinically fully mimic the Bell's palsy. Based on the world experience in multiparametric MRI, including the use of extended protocols in the Pediatric Research and Clinical Center for Infectious Diseases, in case of suspected FN, the most important are high-resolution structural submillimeter sequences based on the gradient echo (SSFP) and diffusion tensor imaging (DTI). Measurement and assessment of fractional anisotropy at the motor nuclei of the facial nerves in the pons look promising for further research. The paper is the first to describe a modified combination diagnostic approach to Bell's palsy with the use of diagnostic transcranial magnetic stimulation with round coil, supramaximal stimulation with identification of the motor evoked response threshold (minimal inducer power to register a reproducible evoked motor response of 50-100 mV in amplitude) in the occipito-parietal area of the ipsilateral muscle.
{"title":"The potential of electromyography, diagnostic transcranial magnetic stimulation, and multiparametric magnetic resonance imaging in the combinatory assessment of facial nerve disorders: a literature review and clinical case series","authors":"N. V. Marchenko, D. Y. Novokshonov, Mariia A. Irikova, E. Y. Shevchenko, D. L. Dubitsky, V. Voitenkov, A. Alkhazishvili, E. Skripchenko","doi":"10.18786/2072-0505-2023-51-021","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-021","url":null,"abstract":"Facial neuropathy (FN) is a complex multicausal problem that, with a seemingly obvious clinical picture, might be challenging to diagnose. Up to 5% of FN cases could be caused by neoplastic or otogenic processes, necessitating an interdisciplinary approach to its treatment by various specialties and in some cases a surgical intervention. In addition, in the early stages of FN, it is difficult to predict its outcomes. Therefore, beyond usual neurological exam and widely used electromyography (EMG), other additional diagnostic tools are used to ensure extended diagnosis, including cancer awareness. In this paper we have analyzed the principles, role and value of computed tomography, magnetic resonance imaging (MRI), diagnostic transcranial magnetic stimulation combined with EMG, and ultrasound assessment with a high-frequency linear transducer in acute FN. We present our own clinical cases of pediatric patients with FN, who were assessed with EMG and multiparametric MRI including diffusion tensor imaging. These cases illustrate both the abnormalities found in the typical course of Bell's palsy, as well as the abnormalities in neoplasm-associated FN that clinically fully mimic the Bell's palsy. Based on the world experience in multiparametric MRI, including the use of extended protocols in the Pediatric Research and Clinical Center for Infectious Diseases, in case of suspected FN, the most important are high-resolution structural submillimeter sequences based on the gradient echo (SSFP) and diffusion tensor imaging (DTI). Measurement and assessment of fractional anisotropy at the motor nuclei of the facial nerves in the pons look promising for further research. The paper is the first to describe a modified combination diagnostic approach to Bell's palsy with the use of diagnostic transcranial magnetic stimulation with round coil, supramaximal stimulation with identification of the motor evoked response threshold (minimal inducer power to register a reproducible evoked motor response of 50-100 mV in amplitude) in the occipito-parietal area of the ipsilateral muscle.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"72 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85905778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-02DOI: 10.18786/2072-0505-2023-51-022
E. Kulbachinskaya, V. Bereznitskaya
Catecholaminergic polymorphic ventricular tachycardia is a primary channelopathy with a high mortality rate if left untreated. In 3 to 5% of catecholaminergic polymorphic ventricular tachycardia patients, mutations in the CASQ2 gene, either in a homozygous or compound heterozygous form, have been identified. In this article, we present a clinical case series of patients from three unrelated families with mutations in the CASQ2 gene, including three novel mutations (p.Leu167Pro, p.Asp325GlyfsTer7, and p.Glu259Ter). All our patients with homozygous or compound heterozygous CASQ2 gene mutations experienced a severe disease course, with early manifestations and resistance to specific anti-arrhythmic treatment, including beta-blockers. They exhibited a wide range of heart rhythm abnormalities, both ventricular and supraventricular, and had a high risk of sudden cardiac death. In all cases, ventricular heart arrhythmias persisted despite regular treatment with specific anti-arrhythmic agents, unless selective left-sided sympathectomy had been performed. The management of this patient group emphasized an individualized approach, combining medical and surgical treatment methods tailored to each patient's unique needs and condition.
{"title":"CASQ2: clinical and genetic insights into catecholaminergic polymorphic ventricular tachycardia across three families","authors":"E. Kulbachinskaya, V. Bereznitskaya","doi":"10.18786/2072-0505-2023-51-022","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-022","url":null,"abstract":"Catecholaminergic polymorphic ventricular tachycardia is a primary channelopathy with a high mortality rate if left untreated. In 3 to 5% of catecholaminergic polymorphic ventricular tachycardia patients, mutations in the CASQ2 gene, either in a homozygous or compound heterozygous form, have been identified. In this article, we present a clinical case series of patients from three unrelated families with mutations in the CASQ2 gene, including three novel mutations (p.Leu167Pro, p.Asp325GlyfsTer7, and p.Glu259Ter). All our patients with homozygous or compound heterozygous CASQ2 gene mutations experienced a severe disease course, with early manifestations and resistance to specific anti-arrhythmic treatment, including beta-blockers. They exhibited a wide range of heart rhythm abnormalities, both ventricular and supraventricular, and had a high risk of sudden cardiac death. In all cases, ventricular heart arrhythmias persisted despite regular treatment with specific anti-arrhythmic agents, unless selective left-sided sympathectomy had been performed. The management of this patient group emphasized an individualized approach, combining medical and surgical treatment methods tailored to each patient's unique needs and condition.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79152541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-25DOI: 10.18786/2072-0505-2023-51-019
E. Stepanova, Evgeny V. Garov
Background: Chronic suppurative otitis media amounts up to 22.4% among all ear, nose and throat disorders. Its complication, a middle ear cholesteatoma, is one of the most frequent causes of patients' referral to an otologist. The literature on the preferential diagnostic method for the cholesteatoma is contradictory, despite that its main treatment approach is surgery. Therefore, it is important to identify the most valid diagnostic method, which would allow for the planning of the most effective surgical treatment. Aim: To compare sensitivity and specificity of computed tomography (CT) and magnetic resonance imaging (MRI) in the diagnosis of cholesteatoma, to assess the possibility of quantitative values of MRI diffusion limitation in cholesteatoma. Materials and methods: From 2015 to 2021, we examined 542 out- and in-patients (849 imagings of temporal bones) with chronic suppurative otitis media. The analysis of CT and MRI sensitivity and specificity included the data from 289 patient examinations, both with newly diagnosed cholesteatoma and having at least one past surgery and had their diagnosis verified intraoperatively and histologically. We analyzed the measured MRI diffusion coefficients from newly diagnosed and relapsed cholesteatoma. The MRI signal values were calculated for 266 masses from 238 patients. Results: MRI sensitivity for the diagnosis of cholesteatoma was 95.2%, specificity 81.2%. CT sensitivity and specificity for the diagnosis of cholesteatoma were 60.1 и 44.7%, respectively. There were no differences in the measured MRI diffusion coefficients between the relapsed and newly diagnosed cholesteatomas. The comparison of cholesteatoma signals with those from artifacts showed the overlapping in their mean values; therefore, it is impossible to rely only on the value of the diffusion coefficient. Conclusion: In the diagnosis of cholesteatomas, MRI is significantly more sensitive and specific than CT. No significant differences in MRI semiotics and the degree of MRI diffusion limitation at NON-EPI DWI (b1000) have been found for the cholesteatomas that had never been operated, and the relapsing cholesteatomas.
{"title":"Comparative assessment of computed tomography and magnetic resonance imaging in the identification of the middle ear cholesteatoma","authors":"E. Stepanova, Evgeny V. Garov","doi":"10.18786/2072-0505-2023-51-019","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-019","url":null,"abstract":"Background: Chronic suppurative otitis media amounts up to 22.4% among all ear, nose and throat disorders. Its complication, a middle ear cholesteatoma, is one of the most frequent causes of patients' referral to an otologist. The literature on the preferential diagnostic method for the cholesteatoma is contradictory, despite that its main treatment approach is surgery. Therefore, it is important to identify the most valid diagnostic method, which would allow for the planning of the most effective surgical treatment. \u0000Aim: To compare sensitivity and specificity of computed tomography (CT) and magnetic resonance imaging (MRI) in the diagnosis of cholesteatoma, to assess the possibility of quantitative values of MRI diffusion limitation in cholesteatoma. \u0000Materials and methods: From 2015 to 2021, we examined 542 out- and in-patients (849 imagings of temporal bones) with chronic suppurative otitis media. The analysis of CT and MRI sensitivity and specificity included the data from 289 patient examinations, both with newly diagnosed cholesteatoma and having at least one past surgery and had their diagnosis verified intraoperatively and histologically. We analyzed the measured MRI diffusion coefficients from newly diagnosed and relapsed cholesteatoma. The MRI signal values were calculated for 266 masses from 238 patients. \u0000Results: MRI sensitivity for the diagnosis of cholesteatoma was 95.2%, specificity 81.2%. CT sensitivity and specificity for the diagnosis of cholesteatoma were 60.1 и 44.7%, respectively. There were no differences in the measured MRI diffusion coefficients between the relapsed and newly diagnosed cholesteatomas. The comparison of cholesteatoma signals with those from artifacts showed the overlapping in their mean values; therefore, it is impossible to rely only on the value of the diffusion coefficient. \u0000Conclusion: In the diagnosis of cholesteatomas, MRI is significantly more sensitive and specific than CT. No significant differences in MRI semiotics and the degree of MRI diffusion limitation at NON-EPI DWI (b1000) have been found for the cholesteatomas that had never been operated, and the relapsing cholesteatomas.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78864804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-25DOI: 10.18786/2072-0505-2023-51-020
Thi-Hanh Nguyen, Liudmila Y. Ilchenko, Lubov Melnikova, K. Kyuregyan, I. Gordeychuk
Background: Antiviral therapy (AVT) with nucleoside and nucleotide analogues (NAs) for chronic hepatitis B (CHB) is aimed at prevention of the development and progression of fibrosis, liver cirrhosis, and hepatocellular carcinoma. Therefore, monitoring of changes in liver fibrosis over time with noninvasive tests is a necessary prerequisite for the assessment of treatment efficacy. However, there are very few studies on changes of transient elastometry (TE) over time, the calculated indices APRI and FIB-4 under AVT in patients with CHB. Aim: To assess changes in noninvasive tests (TE, APRI, FIB-4) over time and to identify factors influencing the fibrosis severity in CHB patients treated with NAs. Materials and methods: This retrospective study was performed in 42 CHB patients, in whom noninvasive methods (TE, APRI and FIB-4) were used before and during NA-based AVT. The patients were divided into two groups: those with a significant reduction in liver density (SRLD, at least by 25% from their baseline TE) and those without a significant reduction ( 25%). Results: Virological response was achieved in 38/42 patients after NA-based AVT (mean duration, 21 months). TE values decreased significantly in the patients with severe fibrosis/cirrhosis (F3/F4) (from 14.2 to 8.3 kPa, p = 0.001), with minimal/moderate fibrosis (F1/F2) (from 5.9 to 5.1 kPa, p = 0.009), and in HBeAg-negative patients (from 6.9 to 5.2 kPa, p 0.001). The F3/F4, F1/F2, HBeAg-positive and HBeAg-negative patients demonstrated a significant reduction in APRI and FIB-4 indices (all p 0.05). Higher baseline TE values were independently associated with SRLD (odds ratio 1.324; 95% confidence interval (CI) 1.0291.702; p = 0.029). Baseline TE, APRI, and FIB-4 values positively correlated with their values on treatment (all p 0.05). The AUROC values of APRI and FIB-4 reduction as SRLD predictors were 0.632 (95% CI 0.4570.807; p = 0.160) and 0.578 (95% CI 0.3910.764; p = 0.408), respectively. Conclusion: NA-based AVT promoted the regression of fibrosis in CHB patients. A high baseline TE value was identified as an independent SRLD predictor. At the same time, despite moderate positive correlations between TE, APRI and FIB-4 parameters, the calculated indexes APRI and FIB-4 cannot be used to predict SRLD. The decrease in liver tissue density by at least 25% correlated only with TE parameters, which makes it possible to recommend TE for monitoring liver fibrosis in CHB patients treated with NA.
背景:核苷和核苷酸类似物(NAs)抗病毒治疗(AVT)用于慢性乙型肝炎(CHB)，旨在预防纤维化、肝硬化和肝细胞癌的发生和进展。因此，通过无创检查监测肝纤维化随时间的变化是评估治疗效果的必要前提。然而，关于慢性乙型肝炎患者AVT下瞬时弹性测量(TE)随时间变化、计算指标APRI和FIB-4的研究很少。目的:评估非侵入性检查(TE、APRI、FIB-4)随时间的变化，并确定影响NAs治疗的CHB患者纤维化严重程度的因素。材料和方法:本回顾性研究在42例CHB患者中进行，在na基AVT之前和期间使用无创方法(TE, APRI和FIB-4)。患者被分为两组:肝密度显著降低(SRLD，至少比基线TE降低25%)和无显著降低(25%)的患者。结果:42例患者中有38例在na基AVT治疗后获得病毒学应答(平均持续时间21个月)。TE值在严重纤维化/肝硬化(F3/F4)患者(从14.2降至8.3 kPa, p = 0.001)、轻度/中度纤维化(F1/F2)患者(从5.9降至5.1 kPa, p = 0.009)和hbeg阴性患者(从6.9降至5.2 kPa, p = 0.001)中显著降低。F3/F4、F1/F2、hbeag阳性和hbeag阴性患者APRI和FIB-4指数均显著降低(p均0.05)。较高的基线TE值与SRLD独立相关(优势比1.324;95%置信区间(CI) 1.0291.702;P = 0.029)。基线TE、APRI和FIB-4值与其治疗时的值呈正相关(均p 0.05)。APRI和FIB-4降低作为SRLD预测因子的AUROC值为0.632 (95% CI 0.4570.807;p = 0.160)和0.578 (95% CI 0.3910.764;P = 0.408)。结论:基于na的AVT可促进CHB患者纤维化的消退。高基线TE值被确定为独立的SRLD预测因子。同时，尽管TE、APRI和FIB-4参数之间存在适度的正相关，但计算得到的指标APRI和FIB-4不能用于预测SRLD。肝组织密度下降至少25%仅与TE参数相关，这使得推荐TE监测接受NA治疗的CHB患者的肝纤维化成为可能。
{"title":"The informative value of noninvasive tools for assessment of liver fibrosis in chronic hepatitis B patients under antiviral treatment with nucleoside and nucleotide analogues","authors":"Thi-Hanh Nguyen, Liudmila Y. Ilchenko, Lubov Melnikova, K. Kyuregyan, I. Gordeychuk","doi":"10.18786/2072-0505-2023-51-020","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-020","url":null,"abstract":"Background: Antiviral therapy (AVT) with nucleoside and nucleotide analogues (NAs) for chronic hepatitis B (CHB) is aimed at prevention of the development and progression of fibrosis, liver cirrhosis, and hepatocellular carcinoma. Therefore, monitoring of changes in liver fibrosis over time with noninvasive tests is a necessary prerequisite for the assessment of treatment efficacy. However, there are very few studies on changes of transient elastometry (TE) over time, the calculated indices APRI and FIB-4 under AVT in patients with CHB. \u0000Aim: To assess changes in noninvasive tests (TE, APRI, FIB-4) over time and to identify factors influencing the fibrosis severity in CHB patients treated with NAs. \u0000Materials and methods: This retrospective study was performed in 42 CHB patients, in whom noninvasive methods (TE, APRI and FIB-4) were used before and during NA-based AVT. The patients were divided into two groups: those with a significant reduction in liver density (SRLD, at least by 25% from their baseline TE) and those without a significant reduction ( 25%). \u0000Results: Virological response was achieved in 38/42 patients after NA-based AVT (mean duration, 21 months). TE values decreased significantly in the patients with severe fibrosis/cirrhosis (F3/F4) (from 14.2 to 8.3 kPa, p = 0.001), with minimal/moderate fibrosis (F1/F2) (from 5.9 to 5.1 kPa, p = 0.009), and in HBeAg-negative patients (from 6.9 to 5.2 kPa, p 0.001). The F3/F4, F1/F2, HBeAg-positive and HBeAg-negative patients demonstrated a significant reduction in APRI and FIB-4 indices (all p 0.05). Higher baseline TE values were independently associated with SRLD (odds ratio 1.324; 95% confidence interval (CI) 1.0291.702; p = 0.029). Baseline TE, APRI, and FIB-4 values positively correlated with their values on treatment (all p 0.05). The AUROC values of APRI and FIB-4 reduction as SRLD predictors were 0.632 (95% CI 0.4570.807; p = 0.160) and 0.578 (95% CI 0.3910.764; p = 0.408), respectively. \u0000Conclusion: NA-based AVT promoted the regression of fibrosis in CHB patients. A high baseline TE value was identified as an independent SRLD predictor. At the same time, despite moderate positive correlations between TE, APRI and FIB-4 parameters, the calculated indexes APRI and FIB-4 cannot be used to predict SRLD. The decrease in liver tissue density by at least 25% correlated only with TE parameters, which makes it possible to recommend TE for monitoring liver fibrosis in CHB patients treated with NA.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"226 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78483728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-18DOI: 10.18786/2072-0505-2023-51-018
L. Velikanova, N. Vorokhobina, Zulfiya R. Shafigullina, V. Kalugina, E. Malevanaya, E. Strelnikova, M. O. Buinova, A. A. Lisitsyn, N. Kushlinskii
Background: Adrenocortical cancer (ACC) is a rare aggressive and rapidly metastatic disease. Early diagnosis of the disease and its metastatic stage are important for the choice of treatment strategy. Evaluation of urine steroid profiles (USP) by gas chromatography-mass spectrometry (GC-MS) is a highly sensitive and specific biomarker instrument that allows for differentiation between benign and malignant tumor and obvious prospects for the diagnosis in patients with adrenal incidentalomas. In our previous study we have found no difference in urine excretion of tetrahydro-11-deoxycortisole (THS), 5-ene-pregnenes and 3,16,20-pregnenetriol/3,16,20-pregnenetriol ratio (3,16,20-dP3/3,16,20-dP3) in patients with metastatic ACC in early postoperative period, compared to pre-operative parameters. We did not account for the disease stage and primary tumor size in that study in ACC patients. Aim: To identify specific characteristics of urine steroid metabolome by GC-MS in ACC IIV stages patients before surgery in order to detect early signs of metastases and the relationship between adrenal steroidogenesis abnormalities and disease stages. Materials and methods: We performed a retrospective analysis of the data from the study of USP in 59 ACC stage I-IV patients with L. M. Weiss score 3, according to pathological examination of the surgical samples. The Cushing syndrome was diagnosed by immunochemistry assay in 28 (47.6%) of ACC patients. Tumor staging was done according to ENSAT based on the results of imaging and postoperative histological reports. ENSAT I was diagnosed in 8 patients, ENSAT II in 26, ENSAT III in 14, ENSAT IV in 11 ACC patients. The control group included 28 healthy donors. USP was assessed by GC-MS before surgery with a gas chromatography-mass-spectrometer Shimadzu GCMS-ТQ8050. Results: The first variant of urinary steroid metabolome abnormalities with increased excretion of dehydroepiandrosterone (DHEA) and THS was found in 10 (90.9%) of ENSAT IV ACC patients and in 20 (50%) of ENSAT II + III patients. The fourth USP variant was characterized by no difference in androgen and THS urinary excretion from that in healthy individuals and was found in ACC ENSAT I patients. Only in ACC ENSAT I patients, there was an increase of pregnanediol (P2) urinary excretion and of the P2/pregnanetriol (P3) ratio, compared to those in healthy donors. ROC-analysis demonstrated that ТНS 867 mcg/24 hours, 3,16,20-dP3 300 mcg/24 hours and 3,16,20-dP3/3,16,20-dP3 1.6 cut-offs had a sensitivity and specificity of 100% for preoperative identification of ENSAT IV ACC patients before surgery and for early diagnosis of ACC metastases. There were positive correlations between 16-oxo-androstenediol, THS, and progestogens, as well as a negative correlation between 3,16,20-dP3/3,16,20-dP3 ratio and the disease stage. Conclusion: Urinary excretion of THS, DHEA and its metabolites, P2, 5-ene-pregnenes, and 3,16,20-dP3/3,16,20-dP3 ratio determined by GC-MS are impor
{"title":"The relationship between urine steroid metabolome and the course of adrenocortical cancer","authors":"L. Velikanova, N. Vorokhobina, Zulfiya R. Shafigullina, V. Kalugina, E. Malevanaya, E. Strelnikova, M. O. Buinova, A. A. Lisitsyn, N. Kushlinskii","doi":"10.18786/2072-0505-2023-51-018","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-018","url":null,"abstract":"Background: Adrenocortical cancer (ACC) is a rare aggressive and rapidly metastatic disease. Early diagnosis of the disease and its metastatic stage are important for the choice of treatment strategy. Evaluation of urine steroid profiles (USP) by gas chromatography-mass spectrometry (GC-MS) is a highly sensitive and specific biomarker instrument that allows for differentiation between benign and malignant tumor and obvious prospects for the diagnosis in patients with adrenal incidentalomas. In our previous study we have found no difference in urine excretion of tetrahydro-11-deoxycortisole (THS), 5-ene-pregnenes and 3,16,20-pregnenetriol/3,16,20-pregnenetriol ratio (3,16,20-dP3/3,16,20-dP3) in patients with metastatic ACC in early postoperative period, compared to pre-operative parameters. We did not account for the disease stage and primary tumor size in that study in ACC patients. \u0000Aim: To identify specific characteristics of urine steroid metabolome by GC-MS in ACC IIV stages patients before surgery in order to detect early signs of metastases and the relationship between adrenal steroidogenesis abnormalities and disease stages. \u0000Materials and methods: We performed a retrospective analysis of the data from the study of USP in 59 ACC stage I-IV patients with L. M. Weiss score 3, according to pathological examination of the surgical samples. The Cushing syndrome was diagnosed by immunochemistry assay in 28 (47.6%) of ACC patients. Tumor staging was done according to ENSAT based on the results of imaging and postoperative histological reports. ENSAT I was diagnosed in 8 patients, ENSAT II in 26, ENSAT III in 14, ENSAT IV in 11 ACC patients. The control group included 28 healthy donors. USP was assessed by GC-MS before surgery with a gas chromatography-mass-spectrometer Shimadzu GCMS-ТQ8050. \u0000Results: The first variant of urinary steroid metabolome abnormalities with increased excretion of dehydroepiandrosterone (DHEA) and THS was found in 10 (90.9%) of ENSAT IV ACC patients and in 20 (50%) of ENSAT II + III patients. The fourth USP variant was characterized by no difference in androgen and THS urinary excretion from that in healthy individuals and was found in ACC ENSAT I patients. Only in ACC ENSAT I patients, there was an increase of pregnanediol (P2) urinary excretion and of the P2/pregnanetriol (P3) ratio, compared to those in healthy donors. ROC-analysis demonstrated that ТНS 867 mcg/24 hours, 3,16,20-dP3 300 mcg/24 hours and 3,16,20-dP3/3,16,20-dP3 1.6 cut-offs had a sensitivity and specificity of 100% for preoperative identification of ENSAT IV ACC patients before surgery and for early diagnosis of ACC metastases. There were positive correlations between 16-oxo-androstenediol, THS, and progestogens, as well as a negative correlation between 3,16,20-dP3/3,16,20-dP3 ratio and the disease stage. \u0000Conclusion: Urinary excretion of THS, DHEA and its metabolites, P2, 5-ene-pregnenes, and 3,16,20-dP3/3,16,20-dP3 ratio determined by GC-MS are impor","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83766088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-13DOI: 10.18786/2072-0505-2023-51-017
Il'ya O. Erenkov, Vadim A. Voronin
Compared to multiaxial computed tomography, the cone beam computed tomography has its benefits in terms of higher resolution imaging, including the construction of a 3D image, and in terms of several fold lower radiation exposure. The duration of scanning of less than 1 minute and the possibility to place a patient in the sitting position allow for the use of this method in various fields of stomatology, maxillofacial surgery, as well as in traumatology for the assessment of limb injuries. The paper presents our experience with the cone beam computed tomography as a single method for radiation diagnostics in children with cervical spine injuries. The first case is an example of the use of this method for primary diagnosis and subsequent follow-up of the restoration of the atlantoaxial position in a 9-year old child with rotatory subluxation of the atlant. To clarify the type of the injury, we combined and compared the axial planes of the 1st and 2nd cervical vertebrae. In the second case, we explored the possibility to assess the restoration of the bone structure and mutual position of the upper cervical vertebrae with the images obtained by cone beam computed tomography in a 9-year old girl with the Down's syndrome, who had been operated due to a cervical spine injury. The analysis of the cone beam computed tomography images from the first clinical case delineates the prospects of the method in the diagnostics of the atlant rotation subluxation in school-age children. Evaluation of the images obtained during the examination of the second clinical case has identified some disadvantages of the cone beam computed tomography, namely: 1) there is no way to control the fixed patient position, 2) limitations of the software to suppress artifacts arising from the metal construction, which leads to advanced image blurring and flatness, significantly hindering the identification of abnormalities.
{"title":"The diagnostic potential of cone beam computed tomography for cervical spine injuries in children: a review of two reports","authors":"Il'ya O. Erenkov, Vadim A. Voronin","doi":"10.18786/2072-0505-2023-51-017","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-017","url":null,"abstract":"Compared to multiaxial computed tomography, the cone beam computed tomography has its benefits in terms of higher resolution imaging, including the construction of a 3D image, and in terms of several fold lower radiation exposure. The duration of scanning of less than 1 minute and the possibility to place a patient in the sitting position allow for the use of this method in various fields of stomatology, maxillofacial surgery, as well as in traumatology for the assessment of limb injuries. \u0000The paper presents our experience with the cone beam computed tomography as a single method for radiation diagnostics in children with cervical spine injuries. The first case is an example of the use of this method for primary diagnosis and subsequent follow-up of the restoration of the atlantoaxial position in a 9-year old child with rotatory subluxation of the atlant. To clarify the type of the injury, we combined and compared the axial planes of the 1st and 2nd cervical vertebrae. In the second case, we explored the possibility to assess the restoration of the bone structure and mutual position of the upper cervical vertebrae with the images obtained by cone beam computed tomography in a 9-year old girl with the Down's syndrome, who had been operated due to a cervical spine injury. \u0000The analysis of the cone beam computed tomography images from the first clinical case delineates the prospects of the method in the diagnostics of the atlant rotation subluxation in school-age children. Evaluation of the images obtained during the examination of the second clinical case has identified some disadvantages of the cone beam computed tomography, namely: 1) there is no way to control the fixed patient position, 2) limitations of the software to suppress artifacts arising from the metal construction, which leads to advanced image blurring and flatness, significantly hindering the identification of abnormalities.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76493841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-12DOI: 10.18786/2072-0505-2023-51-016
O. Koryakina, O. Kovtun, G. Tsaur, E. V. Tsyganko, L. Fechina, V. Bazarnyi
Background: Vincristine polyneuropathy is a major neurotoxic complication of treatment for acute lymphoblastic leukemia in children. A close relationship between genetic variants in candidate genes associated with the vincristine neurotoxicity in various ethnic groups has been proposed. Therefore, identification of the genetic risk factors underlying the predisposition to vincristine polyneuropathy could allow the development of effective tools for preventive diagnostics aimed at identifying a high-risk group among patients treated with vincristine for a personalized approach to their chemotherapy. Aim: To study an association between the rs924607 polymorphism of the CEP72 gene and vincristine polyneuropathy in children with acute lymphoblastic leukemia. Materials and methods: This single center cohort study enrolled 199 children aged 3 to 17 years with newly diagnosed acute lymphoblastic leukemia, who received ALL-MB 2015 chemotherapy regimen. All patients were genotyped for the single nucleotide variant rs924607 in the CEP72 gene by real-time polymerase chain reaction and subsequent allelic discrimination. A comparative analysis of the incidence and clinical signs of vincristine polyneuropathy depending on the carrier of the genetic polymorphism was performed. Results: The incidence of vincristine polyneuropathy in the study pediatric group was 81.0% (n = 161); mostly these were patients with NCI-STCAE grade 2 severity. The rs924607 single nucleotide variant in the CEP72 gene was significantly associated with the neurotoxic complication, with 19.1% (n = 38) of the patients were homozygous for the minor allele (rs924607 genotype TT) and 46.2% (n = 92) had the ST genotype. Among the carriers of at least one rs924607 risk allele (T), the odds ratio for vincristine polyneuropathy was 2.91 (95% confidence interval 1.415.99, p = 0.004). No significant association between the genetic variant assessed and clinical signs of vincristine-induced polyneuropathy was found. Conclusion: The single nucleotide rs924607 polymorphism of the CEP72 gen can be a putative pharmacogenetic marker for vincristine polyneuropathy.
{"title":"Vincristine polyneuropathy in children with acute lymphoblastic leukemia: the association with the hereditary rs924607 polymorphism in the CEP72 gene","authors":"O. Koryakina, O. Kovtun, G. Tsaur, E. V. Tsyganko, L. Fechina, V. Bazarnyi","doi":"10.18786/2072-0505-2023-51-016","DOIUrl":"https://doi.org/10.18786/2072-0505-2023-51-016","url":null,"abstract":"Background: Vincristine polyneuropathy is a major neurotoxic complication of treatment for acute lymphoblastic leukemia in children. A close relationship between genetic variants in candidate genes associated with the vincristine neurotoxicity in various ethnic groups has been proposed. Therefore, identification of the genetic risk factors underlying the predisposition to vincristine polyneuropathy could allow the development of effective tools for preventive diagnostics aimed at identifying a high-risk group among patients treated with vincristine for a personalized approach to their chemotherapy. \u0000Aim: To study an association between the rs924607 polymorphism of the CEP72 gene and vincristine polyneuropathy in children with acute lymphoblastic leukemia. \u0000Materials and methods: This single center cohort study enrolled 199 children aged 3 to 17 years with newly diagnosed acute lymphoblastic leukemia, who received ALL-MB 2015 chemotherapy regimen. All patients were genotyped for the single nucleotide variant rs924607 in the CEP72 gene by real-time polymerase chain reaction and subsequent allelic discrimination. A comparative analysis of the incidence and clinical signs of vincristine polyneuropathy depending on the carrier of the genetic polymorphism was performed. \u0000Results: The incidence of vincristine polyneuropathy in the study pediatric group was 81.0% (n = 161); mostly these were patients with NCI-STCAE grade 2 severity. The rs924607 single nucleotide variant in the CEP72 gene was significantly associated with the neurotoxic complication, with 19.1% (n = 38) of the patients were homozygous for the minor allele (rs924607 genotype TT) and 46.2% (n = 92) had the ST genotype. Among the carriers of at least one rs924607 risk allele (T), the odds ratio for vincristine polyneuropathy was 2.91 (95% confidence interval 1.415.99, p = 0.004). No significant association between the genetic variant assessed and clinical signs of vincristine-induced polyneuropathy was found. \u0000Conclusion: The single nucleotide rs924607 polymorphism of the CEP72 gen can be a putative pharmacogenetic marker for vincristine polyneuropathy.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72755583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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