Signs Of Dysplasia Research Articles

Identifying connective tissue dysplasia signs as one of the factors in the prevention of chronic pain syndrome formation in the post-traumatic period

<h3>ВВЕДЕНИЕ</h3> Скелетно-мышечная боль, возникшая после рецидивирующих травм опорно-двигательного аппарата, является одной из важнейших медико-социальных проблем современного общества. Показано, что повторно возникающие повреждения опорно-двигательного аппарата обусловлены в первую очередь исходными изменениями соединительной ткани, которые существенно ухудшают восстановление таких пациентов и являются одним из значимых факторов формирования хронического болевого синдрома. <h3>ЦЕЛЬ ИССЛЕДОВАНИЯ</h3> Определить диагностически значимые фенотипы дисплазии соединительной ткани у пациентов со скелетно-мышечной болью, возникшей после рецидивирующих травм опорно-двигательного аппарата. <h3>МАТЕРИАЛ И МЕТОДЫ</h3> Клинико-инструментальное обследование в Сеченовском университете прошли пациенты с рецидивирующими травмами опорно-двигательного аппарата, ведущим клиническим проявлением которых была скелетно-мышечная боль продолжительностью более полугода. Выявленные изменения соединительной ткани регистрировались в специально разработанном на кафедре анатомии опроснике. Группа сравнения состояла из здоровых молодых людей соответствующего возраста. <h3>РЕЗУЛЬТАТЫ</h3> Ранжирование наиболее часто встречающихся признаков патологии соединительной ткани в зависимости от их клинической значимости позволило установить диагностически значимые фенотипы у пациентов со скелетно-мышечной болью, возникшей после рецидивирующих травм опорно-двигательного аппарата. К ним относятся: кифотическое искривление позвоночника, деформации грудной клетки, изменения формы ног, готическое небо, гипермобильность суставов, хруст при движениях в височно-нижнечелюстном суставе, миопия средней и высокой степени, мягкие ушные раковины, варикозное расширение вен нижних конечностей и геморрой. <h3>ЗАКЛЮЧЕНИЕ</h3> Раннее выявление установленных фенотипов дисплазии соединительной ткани у пациентов в посттравматическом периоде будет способствовать своевременной коррекцией терапии, подбору адекватных видов физической нагрузки и профилактике формирования хронического болевого синдрома.

Rare anomaly of kidney development – L-shaped fusion

Within the framework of the publication, an L‑shaped fusion of the kidneys (horseshoe‑shaped) is considered, referring to the category of asymmetric fusion. The presented clinical case is an extremely rare form of congenital anomaly of renal fusion, demonstrating the difficulty of verifying the correct diagnosis. The article presents the results of a tomographic study, which, in addition to enlargement of the kidneys, recorded signs of dysplasia of the left ureter (stricture) and signs of an arterial vascular bed (aberrant artery of the upper part of the L‑shaped horseshoe).

Integrated Multidimensional Flow Cytometry (MFC) and Next-Generation Sequencing (NGS) to Reconstruct Evolutionary Paterns from Dysplasia to Acute Myeloid Leukemia (AML)

Integrated Multidimensional Flow Cytometry (MFC) and Next-Generation Sequencing (NGS) to Reconstruct Evolutionary Paterns from Dysplasia to Acute Myeloid Leukemia (AML)

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.

The role of genetics in the development of osteoarthritis is well established but the molecular bases are not fully understood. Here, we describe a family carrying a germline mutation in COMP (Cartilage Oligomeric Matrix Protein) associated with three distinct phenotypes. The index case was enrolled for a familial form of idiopathic early-onset osteoarthritis. By screening potential causal genes for osteoarthritis, we identified a heterozygous missense mutation of COMP (c.1358C>T, p.Asn453Ser), absent from genome databases, located on a highly conserved residue and predicted to be deleterious. Molecular dynamics simulation suggests that the mutation destabilizes the overall COMP protein structure and consequently the calcium releases from neighboring calcium binding sites. This mutation was once reported in the literature as causal for severe multiple epiphyseal dysplasia (MED). However, no sign of dysplasia was present in the index case. The mutation was also identified in one of her brothers diagnosed with MED and secondary osteoarthritis, and in her sister affected by an atypical syndrome including peripheral inflammatory arthritis of unknown cause, without osteoarthritis nor dysplasia. This article suggests that this mutation of COMP is not only causal for idiopathic early-onset osteoarthritis or severe MED, but can also be associated to a broad phenotypic variability with always joint alterations.

Myelodysplasia: A report of 6 cases

Introduction: Myelodysplasia is a typical feature of Myelodysplastic Syndrome (MDS), but not restricted to MDS, it may be found in non-clonal hematological as well as non-hematological diseases. The essential component of the WHO definition of MDS is the clonal nature of myelodysplastic hematopoiesis. MDS needs to be separated from the numerous neoplastic and non-clonal hematologic disorders mimicing MDS, because, while MDS is potentially preleukemic, disorders with secondary myelodysplasia are not neoplastic or preleukemic and are reversible when the underlying factor is removed. Methods: We carried out an analysis of 6 cases presenting with marrow dysplasia between Feb2018 to Apr2019 and present their diagnostic approach with clinical history, complete blood count, biochemical tests, peripheral smear, bone marrow aspirate and biopsy, flowcytometry and cytogenetics. Results: We hereby present a series of 6 cases of myelodysplasia. Two cases are primary MDS with clonality established. One case is associated with acute leukemia, and one therapy-related, and two cases secondary to an autoimmune disorder. Conclusion: MDS is diagnosed by exclusion, because numerous signs of dysplasia might also occur in the context of other, including non-hematological diseases. It is therefore important to exclude other hematological and non-hematological diseases by a combination of clinical features, blood tests and molecular studies.

Pomegranate molasses and red grape vinegar: can they alleviate dysplastic changes in chemically induced oral squamous cell carcinoma in hamsters?

76 male hamsters were divided equally into 4 groups (19 each). Group I served as control group with no intervention. Group II received topical application of 0.5% 7, 12-dimethylbenz[a]anthracene (DMBA) on the left buccal pouches for 16week with no intervention. Group III received a 0.5ml of Pomegranate molasses plus 0.5 ml distilled water through ingestion daily concomitant with DMBA application and continued for 3 months post induction period. Group IV received a red grape vinegar in a protocol similar to group III. Then the pouches were collected fixed and processed for H&E, anti-TGF-β and anti-CK-19 staining. Results: group II showed classical dysplastic changes with statistically significant higher expression of anti-TGF-β and CK-19 (P<0.0001) compared to group III and IV. The later showed reduction of dysplastic changes and anti-TGF-β and CK-19 expression. There was no significant difference between the two treatment modalities. Conclusion: Both pomegranate molasses and red grape vinegar reduced the signs of dysplasia via reduction of TGF-β and CK-19 expression and consequently reduction of the EMT. Both pomegranate molassess and red grape vinegar represent a promising protective therapeutic modality for reduction of dysplastia and carcinogenesis.

Familial short stature-A novel phenotype of growth plate collagenopathies

CONTEXT Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies. OBJECTIVE This work aims to evaluate the frequency of collagenopathies in familial short stature (FSS) children and to describe their phenotype, including growth hormone (GH) treatment response. METHODS Eighty-seven FSS children (pretreatment height ≤ -2 SD both in the patient and his or her shorter parent) treated with GH were included in the study. Next-generation sequencing was performed to search for variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, and COL11A2 genes. The results were evaluated using American College of Medical Genetics and Genomics guidelines. The GH treatment response of affected children was retrospectively evaluated. RESULTS A likely pathogenic variant in the collagen gene was found in 10 of 87 (11.5%) children. Detailed examination described mild asymmetry with shorter limbs and mild bone dysplasia signs in 2 of 10 and 4 of 10 affected children, respectively. Their growth velocity improved from a median of 5.3 cm/year to 8.7 cm/year after 1 year of treatment. Their height improved from a median of -3.1 SD to -2.6 SD and to -2.2 SD after 1 and 3 years of therapy, respectively. The final height reached by 4 of 10 children differed by -0.67 to +1.0 SD and -0.45 to +0.5 SD compared to their pretreatment height and their affected untreated parent's height, respectively. CONCLUSION Oligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.

AML-214: Case Report: A Rare Case Presentation and Detection of Acute Promyelocytic Leukemia

Acute promyelocytic leukemia (APL) is an uncommon subtype of acute myeloid leukemia (AML) characterized by the translocation t (15;17) (q22; q21) with a favorable prognosis upon immediate recognition and treatment. It is very rare when the insertion into PML could not be demonstrated by initial FISH and demonstrated by molecular analysis. We present a case of a 44-year-old female who presented in October 2020 to the Emergency Room with severe fatigue and blood tests showing Hb=6 g/dL, thrombocytopenia, and leukopenia (WBC 2.5 x10⁹/L). The patient was admitted to the hospital, where bone marrow biopsy and flow cytometry showed a negative result. Initial diagnosis was mainly related to a viral infection, when the patient had blood transfusion. On December 15, 2020, the patient presented with leukocytosis (55.31 x10⁹/L), anemia (Hb 7.6 g/dL), thrombocytopenia PLT (67 x10⁹/L), and swelling in her right knee. Repeated flow cytometry showed signs of dysplasia with abnormal myeloid lineage. Total body scans showed findings mostly related to underlying myeloproliferative or lymphoproliferative disease with hepatosplenomegaly, as well as retroperitoneal soft tissue thickening encasing the abdominal aorta, with aortic wall mostly related to associated para-neuroplastic aortitis. Stills disease was diagnosed. Initiation of steroids 1 mg/kg was given, leading to amelioration of the patient and less of blood transfusion. After 1 week, a repeated cytogenetics and molecular analysis showed PML-RARA transcripts and t (15;17), negative for acute leukemia, hypercellular aspirate showing left-shifted myeloid hyperplasia, and <1% blasts. She was diagnosed with promyelocytic leukemia and was started on treatment with ATRA + arsenic per guidelines and is now in complete remission.

Dysplastic Patellofemoral Joints Lead to a Shift in Contact Forces: A 3D-Printed Cadaveric Model

Background: The distribution of contact forces across the dysplastic patellofemoral joint has not been adequately quantified because models cannot easily mimic the dysplasia of both the trochlea and the patella. Thus, the mechanical consequences of surgical treatments to correct dysplasia cannot be established. Purpose/Hypothesis: The objective of this study was to quantify the contact mechanics and kinematics of normal, mild, and severely dysplastic patellofemoral joints using synthetic mimics of the articulating surfaces on cadavers. We tested the hypothesis that severely dysplastic joints would result in significantly increased patellofemoral contact forces and abnormal kinematics. Study Design: Controlled laboratory study. Method: Patellofemoral dysplasia was simulated in 9 cadaveric knees by replacing the native patellar and trochlear surfaces with synthetic patellar and trochlear implants. For each knee, 3 synthetic surface geometries (normal, showing no signs of dysplasia; mild, exemplifying Dejour type A; and severe, exemplifying Dejour type B) were randomized for implantation and testing. Patellar kinematics and the sum of forces acting on the medial and lateral patellar facets were computed for each knee and for each condition at 10° increments from 0° to 70° of flexion. Results: A pronounced lateral shift in the weighted center of contact of the lateral facet occurred for severely dysplastic knees from 20° to 70° of flexion. Compared with normal geometries, lateral patellar facet forces exhibited a significant increase only with mild dysplasia from 50° to 70° of flexion and with severe dysplasia at 70° of flexion. No measurable differences in medial patellar facet mechanics or joint kinematics occurred. Conclusion: Our hypothesis was rejected: Severely dysplastic joints did not result in significantly increased patellofemoral contact forces and abnormal kinematics in our cadaveric simulation. Rather, severe dysplasia resulted in a pronounced lateral shift in contact forces across the lateral patellar facet, while changes in kinematics and the magnitude of contact forces were not significant. Clinical Relevance: Including dysplasia of both the patella and trochlea is required to fully capture the mechanics of this complex joint. The pronounced lateralization of contact force in severely dysplastic patellofemoral joints should be considered to avoid cartilage overload with surgical manipulation.

Dermatoscopy is effective method for diagnostics of skin neoplasms in workers with industrial carcinogens

Introduction. One of the urgent problems of medicine around the world is the growth of malignant diseases. The impact of the production environment in developing professional and production-related skin malignancies is a sensitive area of occupational health. The high prevalence of precancerosis and the increase in the incidence of skin cancer in people of working age indicates the need to improve diagnostic and preventive measures. One of the most effective recognized non-invasive differential diagnoses of skin tumors with high diagnostic accuracy and sensitivity is dermatoscopy. The study aims to substantiate the importance of dermatoscopic diagnosis of skin neoplasms in workers with industrial carcinogens. The researchers analyzed the available literature and statistical data on the impact of industrial carcinogens on benign and malignant skin lesions in workers in various industries. Specialists from Clinic of the "Izmerov Research Institute of Occupational Health" examined 1,136 people during periodic medical examinations. The features of the signs of neoplasms evaluate according to the principle of their presence or absence. There were two groups: group 1 (n=648) consisted of persons who have contact with industrial carcinogens according to the special assessment of working conditions (SAWC), group 2 (n=488) - persons who do not have contact with carcinogens in the workplace. We found that the frequency of benign skin neoplasms increases depending on the length of work in contact with a production carcinogen. Researchers developed the criteria of clinical and anamnestic signs (the main of which are the working conditions). Dermatoscopic criteria for the initial signs of malignancy of skin neoplasms allow us to form a group of dynamic observations of skin neoplasms in patients working with carcinogens during periodic medical examinations. We formed a group of 38 people (29 from the first and 9 from the second group) for monitoring the dynamics of changes in neoplasms with an appearance to a dermatovenerologist after three months. Specialists sent seven people for additional examination by an oncologist to clarify the degree of existing signs of dysplasia. The formation of a dynamic observation group with the risk of malignancy of skin neoplasms will optimize early diagnosis and ensure high efficiency of treatment in outpatient settings.

Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

Backround: Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with asymmetric short stature (e.g. Kniest dysplasia, spondyloepiphyseal dysplasia). Less is known about nonsyndromic collagenopathies - data about their frequency and subtle phenotypic signs are sparse, the information about their response to growth hormone (GH) treatment is lacking completely. Aim: To evaluate the frequency of collagenopathies in familial short stature (FSS) children and to describe their phenotype, including growth hormone (GH) treatment response. Methods: Out of 522 individuals treated in our center with GH from the indication of primary GH deficiency (GHD) or small for gestational age short stature (SGA-SS), 87 children with FSS fulfilled the inclusion criteria (pre-treatment height ≤-2 SD in both patient/their shorter parent, signed written informed consent) and were enrolled to the study. Next-generation sequencing was performed to search for variants in COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1 and COL11A2 genes. The results were evaluated using ACMG guidelines. The phenotype of children with (likely) pathogenic variants was described including the short-term GH treatment response (growth velocity and body-height SDS increase over three years of treatment). For statistical evaluation, parametric tests were used, p-values <0.05 were considered significant. Results: A (likely) pathogenic variant in one of the collagen genes was found in 10/87 (11.5%) children. Their age was 12.5 years (median, range 6-17 years), their pre-treatment height was -3.1 SD (-2.4 to -4.3 SD). Their birth length (median -2.8 SD; range -0.7 to -4.1 SD) was more severely affected than birth weight (median -2.1 SD; range -1.0 to -2.7 SD). Eight children were treated with GH from SGA-SS indication, the remaining 2 were classified as mild GHD (maximal stimulated GH concentration 8.0 and 9.7 ug/l, normal brain MRI and examination of other pituitary hormones). Detailed anthropometric examination described mild asymmetry with shorter limbs and mild bone dysplasia signs (scoliosis, more pronounced lumbar lordosis, genua valga, limited elbow extension) in 2/10 and 4/10 affected children, respectively. Growth velocity improved from a median of 5.3 cm/year to 8.7 cm/year after one year of treatment (p<0.001, paired-sample T-test), height improved from a median of -3.1 SD to -2.2 SD after three years of therapy (p=0.001, ANOVA repeated measures analysis of variants). Conclusion: Nonsyndromic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.Supported by the Ministry of Health, Czech Republic, grant number NV18- 07-00283 and by the research project of the Grant Agency of Charles University of Prague, GAUK 976718.

Deep transfer learning can be used for the detection of hip joints in pelvis radiographs and the classification of their hip dysplasia status.

Reports of machine learning implementations in veterinary imaging are infrequent but changes in machine learning architecture and access to increased computing power will likely prompt increased interest. This diagnostic accuracy study describes a particular form of machine learning, a deep learning convolution neural network (ConvNet) for hip joint detection and classification of hip dysplasia from ventro-dorsal (VD) pelvis radiographs submitted for hip dysplasia screening. 11,759 pelvis images were available together with their Fédération Cynologique Internationale (FCI) scores. The dataset was dicotomized into images showing no signs of hip dysplasia (FCI grades "A" and "B", the "A-B" group) and hips showing signs of dysplasia (FCI grades "C", "D," and "E", the "C-E" group). In a transfer learning approach, an existing pretrained ConvNet was fine-tuned to provide models to recognize hip joints in VD pelvis images and to classify them according to their FCI score grouping. The results yielded two models. The first was successful in detecting hip joints in the VD pelvis images (intersection over union of 85%). The second yielded a sensitivity of 0.53, a specificity of 0.92, a positive predictive value of 0.91, and a negative predictive value of 0.81 for the classification of detected hip joints as being in the "C-E" group. ConvNets and transfer learning are applicable to veterinary imaging. The models obtained have potential to be a tool to aid in hip screening protocols if hip dysplasia classification performance was improved through access to more data and possibly by model optimization.

Signs of connective tissue dysplasia in women with genital prolapse

Introduction. Despite a long history of the disease, genital prolapse still have not been definitively solved. A relevance of pelvic organ prolapse in women has been increasing in recent years largely due to a change in the quality of life and desire to sustain their youth. The number of studies pinpointing the cause of the disease in connective tissue dysplasia (CTD) has been increasing annually.Aim: to conduct a systematic analysis and determine most common signs of CTD in women with genital prolapse.Materials and methods. CTD criteria and the relationship with genital prolapse were analyzed. The study was conducted using questionnaires and including clinical studies examining residents of the Belgorod region (135 women). The main group included 91 patients who had signs of pelvic organ prolapse, and control group consisted of 44 healthy women. CTD intensity score proposed by T.Yu. Smolnova et al. (2003) was used to assess signs of dysplasia in women examined allowing to build up three groups in which each symptom was evaluated as severity score.Results. Asthenic constitution was noted in high percentage of women suffering from genital prolapse (16.70 ± 0.38 %) compared with healthy women (2.30 ± 0.15 %; p = 0.016). Mild bruising, increased tissue bleeding tended to rise in main vs. control group (16.50 ± 0.37 % in main group and 0.0 in control group; p = 0.016). Signs of varicose veins and hemorrhoids requiring no surgical treatment were found in 33.00 ± 0.47 % and 4.50 ± 0.21 % in main vs. control group (p = 0.0002), respectively. Genital prolapse and hernia in first-line relatives were recorded in 9.90 ± 0.30 % in main group (p = 0.031), women without signs of prolapse did not indicate prolapse in close relatives.Conclusion. Asthenic constitution, hernias, varicose veins and hemorrhoids, female pelvic and hernial prolapse in close female relatives, a tendency to mild bruising, skeletal anomalies, elastosis skin were among common CTD signs in women with genital prolapse.

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.

Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies. This work aims to evaluate the frequency of collagenopathies in familial short stature (FSS) children and to describe their phenotype, including growth hormone (GH) treatment response. Eighty-seven FSS children (pretreatment height ≤ -2 SD both in the patient and his or her shorter parent) treated with GH were included in the study. Next-generation sequencing was performed to search for variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, and COL11A2 genes. The results were evaluated using American College of Medical Genetics and Genomics guidelines. The GH treatment response of affected children was retrospectively evaluated. A likely pathogenic variant in the collagen gene was found in 10 of 87 (11.5%) children. Detailed examination described mild asymmetry with shorter limbs and mild bone dysplasia signs in 2 of 10 and 4 of 10 affected children, respectively. Their growth velocity improved from a median of 5.3 cm/year to 8.7 cm/year after 1 year of treatment. Their height improved from a median of -3.1 SD to -2.6 SD and to -2.2 SD after 1 and 3 years of therapy, respectively. The final height reached by 4 of 10 children differed by -0.67 to +1.0 SD and -0.45 to +0.5 SD compared to their pretreatment height and their affected untreated parent's height, respectively. Oligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.

Клинико-прогностическое значение определения эластина и ламинина при недифференцированной дисплазии соединительной ткани у детей

Aim: to determine clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease (UCTD). Patients and Methods: 47 children with UCTD aged 3–6 were enrolled. The diagnosis was verified by ruling out genetic disorders via analyzing family tree, genetic consultation, etc. Phenotypic and visceral signs were interpreted based on "Congenital and multifactorial connective tissue diseases in children" guidelines (2016). The results of cardiovascular and urinary tract ultrasound were analyzed. Serum levels of elastin and laminin were measured by the sandwich ELISA using high-sensitive kits. All tests were performed at admission and after two years. Results: prognostic relevance (prognostic coefficient) of individual phenotypic and visceral signs and lab tests and prognostic threshold value (the sum of prognostic coefficients indicating high, moderate, or low risk of UCTD progression) were determined. It was demonstrated that measuring elastin and laminin levels improves the efficacy of UCTD progression risk assessment. This phenomenon was supported by the values of their prognostic coefficient, which were comparable to the values of significant phenotypic and visceral signs. Furthermore, the accuracy of prognosis based on the use of a set of prognostic indicators (phenotypic, visceral, and biochemical) was supported by the escalation of dysplasia signs. After two years, disease progression was reported in 36 out of 38 children with a moderate and high risk of UCTD progression as identified by the initial evaluation. Conclusion: given the relevance of elastin and laminin in dysplasia pathogenesis, these parameters are considered informative to assess the risk of dysplasia progression in children aged 3–6. It is reasonable to use elastin and laminin levels as additional criteria to evaluate the risk of UCTD progression. KEYWORDS: undifferentiated connective tissue disease, prediction, children, phenotypic signs, laminin, elastin, risk of progression, cardiovascular system, urinary system. FOR CITATION: Cherkasov N.S., Doronina T.N., Prakhov A.V., Lutsenko Yu.A. Clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease. Russian Journal of Woman and Child Health. 2021;4(4):351–354 (in Russ.). DOI: 10.32364/2618-8430-2021-4-4-351-354.

POSSIBILITIES OF COMPLEX CORRECTION OF MORPHOLOGICAL GASTRODUODENAL CHANGES WITH COMORBIDITY OF CHRONIC PANCREATITIS AND CHRONIC H. PYLORI – GASTRITIS

The aim: To investigate the efficacy of Doctovit, a combination of dexpanthenol (provitamin B5) and methylmethionine (vitamin U), in the treatment of patients with chronić pancreatitis in combination with chronic erosive gastritis associated with H. pylori by studying the dynamics of stomach lining morphological changes. Materials and methods: Forty-five outpatients with CP and H.pylori CG were examined. The degree of excretory insufficiency of the pancreas was determined by the level of fecal α-elastase-1. At the beginning of the study and two months after the treatment has started, esophagogastroduodenoscopy + urease test for H. pylori + biopsy from 5 sites with histological examination has been performed. Results: It was found that a significant decrease in lymphohistiocytic infiltration of stomach lining, restoration of the structure of glands which have not undergone atrophy, increased focal hyperplasia (proliferation) of the glandular epithelium as signs of morphological restoration of the epithelium, reduction of epithelial dysplasia signs against the complete absence of positive dynamics of epithelial dysplasia in the group of patients receiving standard treatment of CP and CG, are clear and reliable signs of the effectiveness of vitamin Doctovit in complex therapy of CG associated with H.pylori, which indicate the feasibility of using the medicine to restore SL, which is the basis for effective carcinoprevention. Conclusions: The effectiveness of both treatment complexes in the correction of exocrine insufficiency of the pancreas by the dynamics of fecal α-elastase-1 was proved and which was statistically significantly higher when using the program with the inclusion of Doctovit: respectively 28.12% vs. 20.74% (p&lt; 0.05). The total dynamics of morphological state improvement of stomach lining in the 1st group of patients was 0.9 points against 1.6 points in the 2nd group of patients, which was 17% and 32%, respectively (p &lt;0.05), which activates clinical data on the effectiveness and feasibility of using a combination of dexpanthenol and methylmethionine according to the suggested scheme in the treatment of patients with chronic pancreatitis in comorbidity with H. pylori erosive CG.

EVALUATION OF CASES OF EXOPHYTIC VERRUCOUS HYPERPLASIA IN ORAL SUBMUCOUS FIBROSIS IN BIHAR

Verrucous hyperplasia probably represents a morphological variant of verrucous carcinoma by Slootwage J P and Muller H (1983). An essential feature in distinguishing verrucous hyperplasia from verrucous carcinoma is the location of the thickened epithelium with respect to adjacent normal appearing epithelium. In verrucous hyperplasia most of the hyperplastic broadened rete ridges lay above the adjacent normal epithelium while verrucous carcinoma on contrary exhibits a downward growth pattern of otherwise similar rete ridges. Hence based on above findings the present study was planned in Evaluation of Cases of Exophytic Verrucous Hyperplasia in Oral Submucous Fibrosis in Bihar.&#x0D; The present study was planned in Department of Dentistry, netaji subhash Medical College &amp; Hospital, Bihta, Patna, Bihar. Conventional oral examination (COE) of 30 patients with Oral submucous fibrosis (OSMF) was performed using incandescent operatory light. Out of that 6 cases having Verrucopapillary lesion were evaluated in the present study.&#x0D; The data generated from the present study concluded that patients with highly suspicious malignant verrucous growths on VEL scope examination exhibited increased auto fluorescence and on histopathological examination revealed no signs of dysplasia or invasion. Exhibition of increased autofluorescence of these lesions on VELscope examination could greatly help to determine their nondysplastic nature.&#x0D; Keywords: Verrucous hyperplasia, Verrucous carcinoma, Oral Submucous Fibrosis, etc.

ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotype.

Acute myeloid leukemia with myelodysplasia‐related changes (AML‐MRC) are poor outcome leukemias. Its diagnosis is based on clinical, cytogenetic, and cytomorphologic criteria, last criterion being sometimes difficult to assess. A high frequency of ASXL1 mutations have been described in this leukemia. We sequenced ASXL1 gene mutations in 61 patients with AML‐MRC and 46 controls with acute myeloid leukemia without other specifications (AML‐NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated with ASXL1 mutational status. Mutated ASXL1 (ASXL1+) was observed in 31% of patients with AML‐MRC compared to 4.3% in AML‐NOS. Its presence in AML‐MRC was associated with older age, a previous history of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN), leukocytosis, presence of micromegakaryocytes in bone marrow, lower number of blasts in bone marrow, myelomonocytic/monocytic morphological features and normal karyotype. ASXL1 mutation was not observed in patients with myelodysplastic syndrome‐related cytogenetic abnormalities or TP53 mutations. Differences in terms of overall survival were found only in AML‐MRC patients without prior MDS or MDS/MPN and with intermediate‐risk karyotype, having ASXL1+ patients a worst outcome than ASXL1−. We conclude that the ASXL1 mutation frequency is high in AML‐MRC patients being its presence associated with specific characteristics including morphological signs of dysplasia. This association raises the possible role of ASXL1 as a surrogate marker in AML‐MRC, which could facilitate the diagnosis of patients within this group when the karyotype is normal, and especially when the assessment of multilineage dysplasia morphologically is difficult. This mutation could be used as a worst outcome marker in de novo AML‐MRC with intermediate‐risk karyotype.

Prognostic value and clinical laboratory assessment of connective tissue exchange disorders in the course of children’s traumatic brain injury

The author of this paper has carried out clinical laboratory assessment of connective tissue disorders with the purpose of the prognostic value of the course of closed craniocerebral injury of children with different severity. 115 children with closed craniocerebral injury with different severity in the age from 3 to 17 were examined. There were 90 boys and 25 girls among them. The average age of children was (13.5 ± 4.5) years. The distribution of children into groups was carried out according to the clinical forms of traumatic brain injury. The author has accomplished analysis of certain phenotypological signs among patients of clinical groups. The analysis has demonstrated that the most significant phenotypic markers of patients were: postural disorder (anterior curvature / lateral curvature), hypermobility of the joints, platypodia and myopia. Biochemical research methods were used to assess the condition of the connective tissue. The content of connective tissue markers has been analyzed (glucosaminoglycans in the blood serum and daily excretion of oxyproline in the urine). The author has studied biochemical changes on the basis of a comparative analysis of undifferentiated connective tissue disease (UCTD) phenotypic mar kers among the patients of the clinical groups, which demonstrate that the patients had a decrease of general glucosaminoglycans in the blood serum in the presence of UCTD markers, and their redistribution towards a decrease or increase in the I fraction against the background of a significant decrease in the III fraction and an increase in the uronic acids excretion. An increase in oxyproline was observed due to an increase in collagen catabolism. The changes in the metabolism of proteoglycans and collagen, established during the analysis of the results of biochemical studies, indicate instability and insufficiency of connective tissue structures of the patients’ body with various signs of dysplasia. Key words: children, traumatic brain injury, connective tissue, phenotypic marker, glucosaminoglycans, oxyproline

ENDOSCOPIC DIAGNOSIS OF DYSPLASIA IN PATIENTS WITH LONGSTANDING ULCERATIVE COLITIS

AIM: to evaluate high-definition colonoscopy (HD-WLE) using chromoendoscopy for dysplasia in the longstanding ulcerative colitis (UC).PATIENTS AND METHODS: a cohort prospective study included 140 patients (aged 29-79 years old) with a long course of UC (6-44 years) in time of endoscopic remission with good quality of bowel cleansing. A white-light endoscopy was performed using high-definition colonoscopies (HD-WLE). Chromoendoscopy (0.4% solution of indigo carmine), targeted biopsy, and histological analysis were performed.RESULTS: HD-WLE revealed 34 lesions with endoscopic signs of dysplasia in 27 (19.3%) patients: in 20 patients – 1 (74.1%) lesion, in 7 patients 2 (25.9%). In 22 patients (64.7%) lesions were more than 1 cm.Chromoendoscopy confirmed the signs of dysplasia in 100.0% of cases (88.2% – low grade dysplasia).Histologically, low-grade dysplasia was detected in 58.8% of cases, undetected dysplasia – in 20.6%, sporadic adenomas – in 20.6%.The effectiveness of endoscopic diagnosis for detecting dysplasia was 74%. A comparative analysis of the endoscopic signs of dysplasia and sporadic adenomas showed the absence of significant differences.CONCLUSION: the additional chromoendoscopy during HD-WLE colonoscopy with targeted biopsy does not lead to increase of colorectal epithelial dysplasia detection in UC.The experience of endoscopist should be considered when making decision which type of endoscopy for dysplasia detection in UC is needed.