scholarly journals CONNECTIVE TISSUE DYSPLASIA IN CHILDREN. THE EXPERIENCE OF AN ORTHOPEDIST IN AN OUT-PATIENT UNIT

2019 ◽  
Vol 23 (5) ◽  
pp. 281-284
Author(s):  
A. I. Metalnikov ◽  
A. A. Osipov ◽  
Yury V. Ten ◽  
D. A. Yelkova

Pediatric orthopedists in out-patient pediatric units - unlike traumatologists- orthopedists for adult population - face a great number of various congenital malformations in the muscular-skeletal system of children, and, in the end, malformations of the connective tissue. Unfortunately, diagnosis “dysplasia of the connective tissue”, one of the most widespread diagnosis in the pediatric practice, is frequently a result of “hyper diagnostics” at the primary stage of pediatric control. A decisive role in putting this diagnosis, undoubtedly, belongs to pediatric orthopedists. Dysplasia of the connective tissue occupies a leading place in the pathology of locomotor apparatus in children who are brought to trauma units with injuries for consultations and medical aid. So, the basic purpose of this work was to develop an algorithm for monitoring patients with connective tissue dysplasia and to define ways for increasing the efficiency of prophylactic measures, treatment and rehabilitation of children with the discussed pathology. 30 children with congenital dysplastic impairments in the connective tissue, who were consulted and treated in 2011 - 2018, were included into the trial. All of them (100%) had fractures of upper and lower extremities in anamnesis ( tibia, metatarsal bones, lower third of the radius, transcondylar fractures of the humerus). There were no fractures in the skull, pelvis, fingers. No displacement of bone fragments. The cranial vault was disproportionately large, had a spherical shape. In anamnesis, delayed fontanel closure. During the dynamic observation, main clinical symptoms of the disease were: distorted limbs due to fractures ( 3 and more in each patient), muscle hypotension, vicious posture (scoliotic, kyphotic, kyphoscoliotic, flat back), blue sclera, carious teeth. Findings of laboratory, radiological and densitometric examinations were the final chain in the clinical diagnosis. Modern highly professional medical and rehabilitation measures can lead to good results in children with the connective tissue dysplasia and significantly improve their quality of life. To know the basic clinical manifestations of the disease and ways of its treatment is a need not only for orthopedists in pediatric clinics, but, first of all, for pediatricians who carry out the primary patronage of newborns. Early detection of connective tissue pathologies allows to avoid the most serious complications of the disease, such as idiopathic scoliosis, early juvenile osteochondrosis, and Shoerman-Mau disease.

2019 ◽  
Vol 23 (4) ◽  
pp. 188-192
Author(s):  
I. G. Vasilyeva ◽  
S. M. Sharkov ◽  
B. G. Safronov ◽  
I. E. Volkov ◽  
I. S. Burov ◽  
...  

Introduction. The article includes a comparative study of phenotypic manifestations of undifferentiated connective tissue dysplasia in children of different age groups with urological and andrological pathology. Material and methods. The trial performed included 214 children aged from 1 month to 17 years with clinical manifestations of undifferentiated connective tissue dysplasia who were treated in the children’s uroandrological department for congenital malformations of the urogenital system. The generally accepted table of external phenotypic markers in scores was used in establishing undifferentiated connective tissue dysplasia . Results. In infants, the most frequent disorders were in ears and skin. In the preschool age, in the majority of cases, craniocephalic abnormalities, pathology of osteo-articular system and ears were met. The trail has revealed that the rate of ocular abnormalities increases with age. Moreover, two or more ocular problems were most common in older children. Anomalies of the oral cavity were diagnosed only in a quarter of infants and were manifested in them by a single sign. In older age groups, oral cavity anomalies were in more than half of the patients, and often they were not isolated. During the survey of senior schoolchildren, it was noted that all children of this age group had this or that disorder in their osteo-articular system, and almost always they were multiple. Conclusion. Somatic manifestations of undifferentiated connective tissue dysplasia are often multiorganic and often have non-specific clinical symptoms. Identification of patterns of formation of uroandrological pathology in patients of different age groups with connective tissue insufficiency will ensure timely prevention and correction of visceral manifestations of dysplasia in children.


2021 ◽  
Vol 74 (10) ◽  
pp. 2566-2568
Author(s):  
Tunzala V. Ibadova ◽  
Vitalii V. Maliar ◽  
Volodymyr V. Maliar ◽  
Vasyl V. Maliar

The aim: To evaluate the peculiarity of clinical manifestations of neonatal respiratory distress syndrome (NRDS) in deeply premature infants from mothers with phenotypic markers of undifferentiated connective tissue dysplasia (UCTD). Materials and methods: The study represent the results of a retrospective clinical and statistical analysis of 268 premature birth report card and newborn report sheet. .The main (1 group) included 50 pregnants with obvious phenotypic markers of UCTD, the comparison group (group 2) consisted of 50 pregnant women without phenotypic markers of UDCTD. Results: According to the study, in 12 (24%) pregnant women of the main group at the time of admission to the clinic had contractions,which required specific therapy. Cervical cerclage was performed in 38 (76%) patients of the main group due to the presence of cervical insufficiency (CI). In these cases, the severity of the CI on the Steinber scale was 7.2 ± 0.4 points in the main group against 4.4 ± 0.2 points in the comparison group (p <0.05). Group I patients were more likely to have complications of labor such as:premature rupture of membranes, uterine contraction abnormalities and fetal distress, which required in most cases cesarean delivery (7% and 2%), respectively (p <0.05). The incidence of neonatal complications requiring respiratory support was 67% in group I and 48% in group II. According to our observations, the clinical manifestations of bronchopulmonary dysplasia were twice as high in infants of the main group (66%) against (44%) of the comparison group (p <0.05). Conclusions:1.Neonatal respiratory distress syndrome in premature infants is more often associated from mothers with UDCTD. 2. The high importance of steroid prophylaxis of NRDS and antioxidant therapy in reducing the frequency of mechanical ventilation and the development of bronchopulmonary pathology, especially in infants from mothers with UDCTD syndrome, has been proven. 3. The possibility of diagnosing disorders of functional maturation of the lungs in the fetal period using a non-invasive method of ultrasonography has been confirmed.


2006 ◽  
Vol 5 (1) ◽  
pp. 87-90
Author(s):  
V. G. Mozes ◽  
K. B. Mozes

The aim of the study was to define manifestations of non-differentiate forms of connective tissue dysplasia in women of early reproductive age having small pelvis varicosis. The study results showed that patients having small pelvis varicosis revealed more often phenotype manifestations of non-differentiate forms which were seen in clinical examination. Increased level of serum sialic acids and increasing excretion of connective tissue metabolites (free oxyproline and glycosaminoglycanes) with urine were consequence of connective tissue systemic injury in these patients which is in accordance with data of non-severe dysplasia process. The study performed allowed to conclude that the small pelvis varicosis in women of early reproductive age is a manifestation of systemic injury of connective tissue.


Author(s):  
V. Yu. DOBRIANSKA ◽  
S. M. HERYAK ◽  
L. M. MALANCHUK ◽  
M. I. SHVED ◽  
I. V. KORDA

Among the visceral manifestations of NDST in pregnant women most often diagnosed mitral valve prolapse (20-25%) that accompanied by more cardiovascular and obstetric complications during pregnancy. It demonstrates the high clinical significance of the problem of connective tissue dysplasia with mitral valve prolaps for pregnancy and requires adequate treatment programs for prevention of complications and management of pregnant women with connective tissue dysplasia. Aim. Determination of the frequency of pregnancy pathology in women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia. Materials and methods. 138 pregnant women with MVP and concomitant signs of NDST and 54 healthy pregnant women were selected for analysis. Clinical manifestations of NDST, different variants of arrhythmias and the total number of complications of pregnancy and childbirth were evaluated. Results. In pregnant women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia, cases of frequent sinus extrasystole were significantly more often compared to frequent ventricular arrhythmia (47.8% vs. 18.1%, p<0.001) and cases of combination of frequent sinus extrasystole and ventricular arrhythmia (13.3 % vs. 1.5%, p <0.05). They significantly more often identified both symptoms of arrhythmological nature and symptoms that indicated a violation of autonomic status. The presence of NDST syndrome is more often accompanied by the development of complications of pregnancy and childbirth. These pregnant women have genetic and phenotypic risk factors for the development of pathological pregnancy and childbirth, birth trauma, disability of mother and newborn, which justifies such patients in a separate risk group for individualized programs of the prevention and treatment of visceral (cardiac) manifestations of NDST and possible complications of pregnancy and childbirth. Conclusions. 3.1% of pregnant women are diagnosed with phenotypic signs (stigma) of undifferentiated connective tissue dysplasia, and the most common visceral cardiac manifestation is mitral valve prolapse. The presence of mitral valve prolapse and extrasystolic arrhythmia in pregnant women with NDST is accompanied by significantly more frequent development of pregnancy and childbirth complications in these patients.


2014 ◽  
Vol 95 (6) ◽  
pp. 897-904
Author(s):  
A S Gasparov ◽  
E D Dubinskaya ◽  
I A Babicheva ◽  
N V Lapteva ◽  
M F Dorfman

A review of literature on the problem of connective tissue dysplasia in obstetric and gynecological practice is presented. The questions of terminology, classification, clinical manifestations and diagnosis are surveyed. Currently, many experts note the change of the classical clinical course of a significant number of internal diseases, increased prevalence of allergic and autoimmune diseases. Since the 90s of the last century, connective tissue dysplasia is considered one of the main reasons of the above mentioned conditions. Connective tissue dysplasia is the malformation, which is the basis of a significant number of internal diseases, with diverse symptoms and no clear diagnostic criteria. Researches on connective tissue dysplasia are mainly focused on cardiologic and pulmonary diseases, musculoskeletal diseases, and autoimmune processes. Researches addressing connective tissue diseases in a number of gynecological diseases and conditions in obstetrics appeared only recently. The presence of connective tissue dysplasia in women is a major problem in obstetrics and gynecology. Most reliable biochemical and molecular genetic studies are currently unavailable to a practicing doctor due to technical difficulties and considerable cost. So clinical-genealogical method of examination of patients and their families, as well as the widespread use of instrumental diagnostic methods are of special importance. Obstetricians and gynecologists while managing such patients should pay close attention to the phenotypic features of connective tissue dysplasia and carefully evaluate the cardiovascular and pulmonary systems, blood coagulation to avoid possible serious, often life-threatening, complications.


2018 ◽  
Vol 5 (3) ◽  
pp. 143-147
Author(s):  
M. Strelkova ◽  
G. Senatorova

CLINICAL AND ANAMNESTIC FEATURES OF THE COURSE OF ACUTE BRONCHITIS IN CHILDRENStrelkova M., Senatorova G. The purpose of the study wasto detect clinical and anamnestic features of the course of acute obstructive bronchitis in children with a background of undifferentiated connective tissue dysplasia. Dynamic examination of 42 children with acute obstructive bronchitis was performed. The registration card for all children was developed and filled, it consisted of several sections: general information, family history, allergic history, life and past medical history, phenotypic assessment of undifferentiated connective tissue dysplasia. The results indicate that compromised allergic and genealogical history, as well as burdened obstetric history of the mother (threatened preterm delivery and gestosis) is significant risk factors. Assessment of clinical manifestations of acute obstructive bronchitis in children showed that the severity of the disease, which is determined by the degree of severity and duration of symptoms, was associated with the number of signs ofUCTD.Keywords: acute obstructive bronchitis, children, undifferentiated connective tissue dysplasia, wheezing, phenotypic assessment. РезюмеКЛИНИЧЕСКИЕ И АНАМНЕСТИЧЕСКИЕ ОСОБЕННОСТИ ТЕЧЕНИЯ ОСТРОГО БРОНХИТА У ДЕТЕЙСтрелкова М., Сенаторова Г.Метою дослідження було виявити клінічні та анамнестичні особливості перебігу гострого обструктивного бронхіту (ГОБ) у дітей на тлі недиференційованої дисплазії сполучної тканини. Проведено динамічне обстеження 42 дітей з гострим обструктивним бронхітом. Розроблено і заповнено реєстраційну картку для всіх дітей, вона складалася з кількох розділів: загальна інформація, сімейний анамнез, алергологічний анамнез, анамнез життя та хвороби дитини, фенотипічні оцінки недиференційованої дисплазії сполучної тканини. Результати свідчать про наявність факторів ризику - наявність обтяженого алергологічного та генеалогічного анамнезу, а також обтяжений акушерський анамнез матері (наявність загрози передчасних пологів та гестозів). При аналізі клінічних проявів ГОБ у дітей було встановлено, що ступінь тяжкості та тривалості симптомів захворювання була пов'язана з кількістю ознак недиференційованої дисплазії сполучної тканини.Ключові слова: гострий обструктивний бронхіт, діти, недиференційована дисплазія сполучної тканини, фенотипічні ознаки. Резюме.КЛИНИЧЕСКИЕ И АНАМНЕСТИЧЕСКИЕ ОСОБЕННОСТИ ТЕЧЕНИЯ ОСТРОГО БРОНХИТА У ДЕТЕЙСтрелкова М., Сенаторова Г.Целью исследования было выявить клинические и анамнестические особенности течения острого обструктивного бронхита у детей на фоне недифференцированной дисплазии соединительной ткани. Проведено динамическое обследование 42 детей с острым обструктивным бронхитом (ООБ). Разработаны и заполнены регистрационную карточку для всех детей, она состояла из нескольких разделов: общая информация, семейный анамнез, аллергологический анамнез, анамнез жизни и болезни ребенка, фенотипическая оценка признаков недифференцированнойдисплазиисоединительной ткани. Результаты свидетельствуют о наличии факторов риска - наличие отягощенного аллергологического и генеалогического анамнеза, а также отягощенный акушерский анамнез матери (наличие угрозы преждевременных родов и гестозов). При анализе клинических проявлений ГОБ у детей было установлено, что степень тяжести и продолжительности симптомов заболевания была связана с количеством признаков признаков недифференцированнойдисплазиисоединительной ткани.Ключевые слова: острый обструктивный бронхит, дети, недифференцированная дисплазия соединительной ткани, фенотипические признаки.


2021 ◽  
Vol 29 (1) ◽  
pp. 99-108
Author(s):  
Olga P. Saryeva ◽  
Aleksej P. Vahromeev ◽  
Violetta V. Parejshvili

Aim. This study aimed to identify peculiarities of the course of pregnancy, delivery, and morphology of the placenta in women with undifferentiated connective tissue dysplasia (UCTD). Materials and Methods. The main group included 60 pregnant women with UCTD, and the control group was composed of 30 somatically healthy women with physiological course of pregnancy. All patients were examined as regards the use of general clinical and laboratory methods. Moreover, 65 placentas were subjected to complex morphological examinations, including organometry, macro- and microscopic examinations, and immunohistochemistry. Results. Pregnancy and delivery in women with UCTD encounter various complications, such as threat of premature birth and miscarriage, pre-eclampsia, prenatal amenorrhea, and placental insufficiency manifested as fetal growth restriction syndrome and confirmed in the course of morphological examination. The structural basis of chronic placental insufficiency is associated various pathologies of the umbilical cord and disorders in maturation of the villous chorion with the underlying weak adaptive and compensatory processes. Connective tissue dysplasia in fetal membranes is manifested as disorders in histo- and cytoarchitectonics and in increased expression of matrix metalloproteinase-9 by amniocytes and cytotrophoblast cells. Conclusion. UCTD produces unfavorable effect on the course of pregnancy and delivery. The results of the clinical and morphological examinations demonstrate the multiorgan characteristics of injuries in the mother-placenta-fetus system, which necessitates further studies for the determination of complex prophylactic measures.


Author(s):  
A. V. Goryainova ◽  
P. V. Shumilov ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.


Author(s):  
V.V. Li ◽  
◽  
O.V. Kolenko ◽  
V.V. Egorov ◽  
G.P. Smolyakova ◽  
...  

Purpose. To study the effect of undifferentiated connective tissue dysplasia (UCTD) on the clinical features of the course of school myopia. Material and methods. The object of study – 120 children (240 eyes) aged 12–15 years with moderate axial myopia. In addition to standard examination methods, computer accommodography and measure of convergence were carried out. Two observation groups were formed: the main – 80 people (160 eyes) with clinical manifestations of UCTD, the control – 40 people (80 eyes) without clinical manifestations of UCTD. According to the severity of clinical manifestations of UCTD in the main group, 3 subgroups were distinguished: 1–A – 25 children (50 eyes) with a weak degree of UCTD, 1–B – 38 children (76 eyes) with a moderate degree of UCTD, 1–C – 17 children (34 eyes) with a pronounced degree of UCTD. Results. Locomotor syndrome prevails in the structure of UCTD in children of the main group. A comparative analysis of the frequency of peripheral retinal degeneration revealed that most often they are detected in children with myopia associated with UCTD. In children of the main observation group, weakness of accommodation prevails in the structure of accommodation disorders (p<0,05). In the general population of examined in 39 children (32,5%), the presence of esophoria of varying degrees of compensation was diagnosed. A statistically significant difference was revealed between the control group and the subgroup of children with myopia associated with a pronounced degree of UCTD. Conclusion. Phenotypic signs of locomotor syndrome prevails in the structure of UCTD. School myopia in children with UCTD is characterized by: an increase in the frequency of peripheral retinal degeneration in 2,9 times; an increase in the proportion of children with a weakness of accommodation – in 1,7 times and violations between accommodation and convergence – in 2,2 times, compared with children with myopia without UCTD.


2019 ◽  
Vol 23 (3) ◽  
pp. 515-521
Author(s):  
M.O. Chernykh ◽  
A.M. Berezovskyi ◽  
V.A. Shamrai ◽  
L.Yu. Postolovskyi

The term “cardioneurosis” (neurocirculatory dystonia (NCD)) refers to somatoform dysfunction of the autonomic nervous system, which is caused by the imbalance of the sympathetic, parasympathetic and metasympathetic parts of the nervous system. It is a polyetiological disease characterized by multiple clinical symptoms, mainly from the cardiovascular system, which occur and aggravate against the background of acute and chronic stress effects, but has a benign course and a good prognosis. Despite the functional nature of the disease, pathology of the cardiovascular system in some patients may transform into organic one after a certain period of time. Due to the significant prevalence of NCD in the overall structure of cardiovascular diseases (up to 50%), especially among young and able-bodied people, the study of clinical features and the search for a morphological substrate of cardioneurosis is relevant. The purpose of the study is to evaluate the effect of NCD on the heart connective tissue matrix (CTM) and the appearance of cardiac syndromes in NCD, their clinical manifestations on the part of the cardiovascular system. The analysis is based on a review of national and foreign original articles and research, using databases PubMed, eLIBRARY.RU, Web of Science. The article deals with the clinical features of cardioneurosis, in particular the appearance of cardiac syndromes in NCD and their clinical manifestations, as well as the role of structural disorders in CTM, as in a locus of primary neurovascular and neuroendocrine interactions. CTM changes that occur with NCD are associated with pathology which is caused by damage to the connective tissue, and in particular with non-differentiated dysplasia of connective tissue. Therefore, systemic dysplastic changes in CTM may be a marker of constitutional psycho-vegetative insufficiency and a morphological substrate of NCD.


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