scholarly journals DYNAMICS OF PHENOTYPIC MANIFESTATIONS OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN WITH UROANDROLOGICAL PATHOLOGY IN THE AGE ASPECT

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.

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.


2021 ◽  
Vol 16 (3) ◽  
Author(s):  
Ehsan Sharifipour ◽  
Alireza Koohpaei ◽  
Saeed Shams ◽  
Maryam Rahimi ◽  
Mohammad Aghaali

Background: The COVID-19 pandemic has affected more than 180 countries and has killed more than half a million people up to now. Risk factors for death are not yet fully identified. Objectives: The present study aimed at comparing the clinical manifestations and risk factors for death between two groups of patients with COVID-19 aged under and above 50 in Qom Province, Iran. Methods: The current retrospective cohort study was conducted on 178 patients with COVID-19 in Qom Province. Patients were followed up until recovery or death. The source population was divided into four groups, of which 45 patients were randomly enrolled in the study. The first group included patients aged less than 50 discharged after recovery; the second group included patients less than 50 years who died from COVID-19; the third group consisted of patients above 50 discharged after recovery, and the fourth group included patients above 50 who died from COVID-19. The data, including COVID-19 clinical symptoms and presumptive risk factors for death, were collected and compared between groups. Results: The most common symptoms in hospitalized patients were shortness of breath (82.6%), cough (73.6%), and fever (71.9%), respectively. In the age group above 50, the prevalence of fever in the recovered subjects was higher than that of the ones who died from the disease (81.8% Vs. 53.3%). Headache and loss of senses of smell and taste were also more common in both age groups in the recovered subjects. In the age group under 50, subjects who died had higher BMI values, but in the age group above 50, subjects who died had lower BMIs. Conclusions: The results of the present study showed that obesity could be a risk factor for death in the age group under 50. The results also indicated that in both age groups, extrapulmonary symptoms were more common in recovered patients.


Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 777
Author(s):  
Charlotte Calvo ◽  
Odile Fenneteau ◽  
Guy Leverger ◽  
Arnaud Petit ◽  
André Baruchel ◽  
...  

Infant acute myeloid leukemia (AML) is a rare subgroup of AML of children <2 years of age. It is as frequent as infant acute lymphoblastic leukemia (ALL) but not clearly distinguished by study groups. However, infant AML demonstrates peculiar clinical and biological characteristics, and its prognosis differs from AML in older children. Acute megakaryoblastic leukemia (AMKL) is very frequent in this age group and has raised growing interest. Thus, AMKL is a dominant topic in this review. Recent genomic sequencing has contributed to our understanding of infant AML. These data demonstrated striking features of infant AML: fusion genes are able to induce AML transformation without additional cooperation, and unlike AML in older age groups there is a paucity of associated mutations. Mice modeling of these fusions showed the essential role of ontogeny in the infant leukemia phenotype compared to older children and adults. Understanding leukemogenesis may help in developing new targeted treatments to improve outcomes that are often very poor in this age group. A specific diagnostic and therapeutic approach for this age group should be investigated.


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 &#177; 0.4 points in the main group against 4.4 &#177; 0.2 points in the comparison group (p &#60;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 &#60;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 &#60;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.


2018 ◽  
pp. 31-33
Author(s):  
S.I. Zhuk ◽  
◽  
E.A. Budchenko ◽  

The article describes genital prolapse as a pathology of female genital organs. The factors leading to the occurrence of genital prolapse in women of different age groups are presented. Clinical manifestations and mechanisms of their occurrence are substantiated. Considered variants of treatment of women with genital prolapse of various degrees of severity. Illumination of the data of our research of the method of prophylaxis of genital prolapse in the late postpartum period with the help of Corelax vaginal cones. Key words: genital prolapse, rectocele, pelvic floor, connective tissue, vaginal cones.


2019 ◽  
Vol 99 (1) ◽  
pp. 47-51 ◽  
Author(s):  
Shorook Na’ara ◽  
Igor Vainer ◽  
Moran Amit ◽  
Arie Gordin

Background: Foreign body aspiration (FBA) is a major cause of morbidity and mortality in children. It is a preventable event that predominates in preschool age. The signs and symptoms mimic respiratory diseases common in the same age-group. We compared FBA in infants to FBA in older children. Methods: Retrospective analysis of all the cases of suspected FBA of children under the age of 18 years hospitalized at one medical center during 2002 to 2016. We analyzed the data according to age: up to 1 year (infants) and 1 to 18 years. Results: One hundred seventy-five children with suspected FBA were admitted; of whom, 27 (15%) were infants and 148 (85%) were older children (age 1-18 years). For the 2 age groups, adults witnessed 85% and 73%, respectively, of the incidents ( P = .4). In the neonate group, 48% presented with normal X-ray findings compared to only 20% in the older group; 15% of the older group had a positive chest X-ray for a foreign body, while none had such in the infants’ group ( P = .01). For the 2 age groups, the majority of the FBs found were from organic origin. About half of the patients were diagnosed and managed within 24 hours of the aspiration event. In 10%, repeated bronchoscopy was performed due to a retained FB remnant. In a multivariate analysis, signs and symptoms ( P < .05), location of the FB ( P < .001), and witnessed aspiration ( P < .001) were independent prognostic factors for the length of hospitalization. Conclusion: Foreign body aspiration is not uncommon in young infants; the management is challenging due to small airways, the need to use smaller bronchoscopes, and the lack of working channel forces in pediatric bronchoscopes.


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.


2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Sarah Smith-Simpson ◽  
Lisa Fries ◽  
Carolyn Ross

Abstract Objectives The objective was to identify the age at which parents expose their children to different food textures and how challenging the textures were for their child to eat. It was hypothesized that older children would be exposed to a wider variety of food textures and that parents would consider a larger proportion of these textures to be easy to eat. Methods Parents (n = 365) in Grand Rapids, MI, USA with a child aged 6–36 months completed an online survey. The survey had 37 questions, including 15 unique food texture categories with food examples (Table 1). Parents were asked how difficult each texture category was for their child to eat using a 5-point scale ranging from “Very Easy” to “Very Difficult”, plus an option for “My child hasn't tried this yet”. Children were divided into 5 age groups (6-8 months, 9–12 months, 13–18 months, 19–24 months, 25–36 months) for analysis. Across texture category and age group, data were analyzed using analysis of variance, with mean separation accomplished using Fisher's LSD (P < 0.05). Results A majority of children in the youngest age group (6-8 months) had only eaten foods described as creamy, dissolvable, or pureed. All of the texture categories had been served to a majority of 9–12 month-old children, except for “hard” and “tough meat”. By 18 months of age, a majority of children had tried all food texture categories except “hard”. Across all age groups, creamy, dissolvable, and puree were rated as easy and “tough meat” was rated as difficult. The other textures showed age-related differences, with parents of older children reporting the textures as easier to eat than those of younger children. Food textures were compared within the 9–12 and 13–18 month age groups, when most new food textures are introduced, and similar trends were observed. The easiest textures were creamy, dissolvable, puree and soft, followed by lumpy and juicy, then slippery, chewy, rubbery, and sticky. The most difficult textures were leafy, with skin, hard, tough meat and combination of textures. Conclusions When considering textures of the foods that comprise a well-balanced, healthy diet, many foods are difficult for children to eat. Preparing foods such as green vegetables specifically to have age-appropriate textures could improve consumption. Funding Sources Washington State Univ College of Agricultural, Human and Natural Resource Emerging Research Issues Grant.


1999 ◽  
Vol 42 (6) ◽  
pp. 1367-1377 ◽  
Author(s):  
Kelly Dailey Hall ◽  
Ofer Amir ◽  
Ehud Yairi

Both clinical and theoretical interest in stuttering as a disorder of speech motor control has led to numerous investigations of speaking rate in people who stutter. The majority of these studies, however, has been conducted with adult and school-age groups. Most studies of preschoolers have included older children. Despite the ongoing theoretical and clinical focus on speaking rate in young children who stutter and their parents, no longitudinal or cross-sectional studies have been conducted to answer questions about the possible developmental link between stuttering and the rate of speech, or about differences in rate development between preschool children who stutter and normally fluent children. This investigation compared changes in articulatory rate over a period of 2 years in subgroups of preschool-age children who stutter and normally fluent children. Within the group of stuttering children, comparisons also were made between those who exhibited persistent stuttering and those who eventually recovered without intervention. Furthermore, the study compared two metrics of articulatory rate. Spontaneous speech samples, collected longitudinally over a 2-year period, were analyzed acoustically to determine speaking rate measured in number of syllables and phones per second. Results indicated no differences among the 3 groups when articulation rate was measured in syllables per second. Using the phones per second measure, however, significant group differences were found when comparing the control group to the recovered and persistent groups.


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