CLINICAL AND DIAGNOSTICS CRITERIA OF UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA IN CHILDREN WITH DEVELOPMENTAL DYSPLASIA OF THE HIP

2021 ◽  
Vol 100 (5) ◽  
pp. 69-75
Author(s):  
A.V. Sertakova ◽  
◽  
M.Ch. Timaev ◽  
S.A. Rubashkin ◽  
M.M. Dokhov ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal System ◽  
Heart Valves ◽  
Joint Hypermobility ◽  
Developmental Dysplasia ◽  
Control Group ◽  
Healthy Children ◽  
Clinical Markers ◽  
Connective Tissue Dysplasia ◽  
Dysplasia Of The Hip

Developmental dysplasia of the hip (DDH) is characterized by varying degrees of underdevelopment of the hip joint (HJ) and para-articular tissues with numerous variants of clinical and anatomical criteria. It is now considered one of the manifestations of undifferentiated connective tissue dysplasia (UCTD), which is confirmed by genetic testing. Undoubtedly, children with DDH also have other manifestations of UCTD, the clinical combination of which must be taken into account for the overall prognosis of the patient's quality of life, as well as the determination of control points in the treatment and prevention of the disease. Materials and methods of research: a singlestage observational screening study was carried out involving 785 children (578 girls and 207 boys) from 2 to 14 years old (7,5±1,5 years) with a radiographically confirmed diagnosis of DDH of various variants (torsion-valgus deformity, subluxation , dislocation in the vehicle). The control group consisted of 259 children (140 girls and 119 boys) without HJ pathology, who were examined at the Research Institute of Traumatology, Orthopedics and Neurosurgery for preparation for a kindergarten/school/sports section, comparable in age (6,5±1,3 years). The criteria for selecting UCTD was the Bayesian classifier modified by T.I. Kadurina and V.N. Gorbunova, including the 50 most common clinical markers. For analysis the clinical anamnestic method, instrumental data of somatic symptom disorder test was used. Results: after summing up the scores in children with DDH, grade I UCTD was diagnosed in 40,0% (314), grade II – in 36,1% (283) and grade III – in 23,9% (188). In most cases, symptoms of UCTD with an Ehlers-Danlos-like syndrome were noted, which are characterized by changes in the musculoskeletal system, skin, connective tissue elements of internal organs (hypermobility of the joints, stretchable skin, anatomical disorders of the heart valves, bile ducts, etc.) or signs of UCTD with an unclassifiable phenotype when there is a variety of stigmas. All children in this group have joint hypermobility, myotonic syndrome, and various types of posture disorders. In the control group with DDH, 27,4% (71) noted the burdened heredity in the pathology of the musculoskeletal system on the mother's or father's side. In the control group the signs of UCTD stigma were also diagnosed, however, the degree of their severity and occurrence were significantly lower (p<0,05). In these children, the most significant were changes in the organ of vision, nervous system, maxillofacial region, digestive tract and a decrease in immune function. Conclusion: manifestations of UCTD are significantly more common in children with DDH compared with healthy children; pathology of the musculoskeletal and cardiovascular systems prevails in the structure of UCTD stigmas. In the pathogenesis of DDH, a genetic predisposition is realized (45,5%, 357 children), hypermobility of joints, myatonic syndrome were observed in all children in the study group. Manifestations of UCTD were also found in the control group, however, the stigmas were of a visceral nature of lesions and impairments from the sense organs, which is not the subject of a pediatric orthopedist's study. Thus, the features of UCTD in children with DDH are considered as a predictor of the pathology severity.

scholarly journals CLINICAL-LABORATORY MARKERS OF FIBRILOGENESIS DISORDERS IN THE SEVERITY OF PYELONEPHRITIS IN CHILDREN

2018 ◽  
Vol 2 ◽  
pp. 30-38
Author(s):  
Natalia Lukyanenko ◽  
Mariana Iskiv
Keyword(s):  
Connective Tissue ◽  
Acute Pyelonephritis ◽  
Clinical Laboratory ◽  
Joint Hypermobility ◽  
Chronic Pyelonephritis ◽  
Control Group ◽  
Healthy Children ◽  
Laboratory Markers ◽  
Frequent Relapses ◽  
Connective Tissue Dysplasia

Aim of the research: to establish the role of undifferentiated connective tissue dysplasia, as a manifestation of violation of fibrillogenesis, in the severity of the course of pyelonephritis in children. 154 children with pyelonephritis from 3 to 18 years were examined. As a result of catamnestic surveillance, they were divided into 2 groups: I – 92 persons, children with chronic pyelonephritis in which were diagnosed 3 or more episodes of relapse of pyelonephritis during the year, and II – 56 children with acute pyelonephritis, in which during the year no relapses were noted. The control group were 65 somatically healthy children of the same age (III - health-control). All children had a routine comprehensive clinical and laboratory examination and clinical and laboratory markers of a fibrillogenic disorder were established. In children with chronic pyelonephritis, the frequency of all analyzed complaints was significantly higher than in children with acute pyelonephritis without relapses: frequent headaches – 56.52 % versus 25.0 %, appetite loss – 28.26 % vs. 19.64 %, frequent abdominal pain – 52.17 % vr. 32.14 %, increased fatigue – 41.30 % vr. 28.57 %. In children with chronic pyelonephritis, phenotypic signs of undifferentiated connective tissue dysplasia (UCTD) were significantly more marked, such as joint hypermobility (in 52.0 % of children versus 5.4 %), asthenic body structure (59.0 % vs. 26.78 %), visual disturbance (84.8 % vs. 32.14 %), chest deformity (42.4 % vs. 8.9 %), scoliosis (52.17 % vs 10.7 %), arachnodactyly and predisposition to bleeding were observed only in children of the 1st group (22.5 % and 4.34 % respectively). In practically all children with chronic pyelonephritis, the values of free and bound oxyproline fractions in blood plasma were significantly increased (47.14±0.03 μmol/l and 40.08±0.03 μmol/l, respectively), according to arithmetic meanings, reliably differing from the data of children with acute pyelonephritis (17.65±0.01 μmol/l and 17.22±0.02 μmol/l), in which these oxyproline fractions were elevated only in 12.0 % and 16.0 % of the subjects. In 97.0 % of children with chronic pyelonephritis, the level of oxyproline in urine was elevated and significantly exceeded the level of excretion of oxyproline in urine in children with acute pyelonephritis. The presence of UCTD in a child plays an important role in the process of chronic pyelonephritis, and children with its manifestations have a heavier course of disease with frequent relapses, therefore, the presence of signs UCTD is prognostically unsuccessful, which dictates the need for the appointment of metabolic therapy in the first episodes of the disease in children, if they have clinical and laboratory manifestations of UCTD.

scholarly journals Assessment of heart rate variability and tone of the autonomic nervous system in puberty-aged children with undifferentiated connective tissue dysplasia

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
O V Sidorovich ◽  
S Y U Elizarova ◽  
A V Khizhnyak ◽  
N A Kuznetsova ◽  
E E Prosova
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Nervous System ◽  
Autonomic Nervous System ◽  
Connective Tissue ◽  
Control Group ◽  
Healthy Children ◽  
Autonomic Nervous ◽  
Connective Tissue Dysplasia ◽  
End Of Puberty

Abstract   Within the framework of the research into pathological conditions and syndromes associated with undifferentiated connective tissue dysplasia (UCTD), an emphasis needs to be placed on the changes in heart rhythm. In puberty, the severity of neurovegetative disorders caused by the presence of UCTD might increase manifold. The features of heart rate variability (HRV) in pubertal children against the background of UCTD have been studied insufficiently and require more detailed analysis. This study aims to assess heart rate variability and tone of the autonomic nervous system (ANS) in puberty-aged children with UCTD. Two groups of children were examined, with methods including electrocardiography and cardiointervalography. The main group consisted of 36 puberty-aged children with UCTD, the control group consisted of 30 healthy children. ANS tone was assessed based on the HRV. In the control group of children aged 11, the value of variation range (VR) was 0.18±0.4, mode amplitude (MA) 35.2±2.4, stress index (IN) 72.8±4.3, which corresponds to the state of vegetative balance. As the puberty progresses, the state of eutonia is replaced by the activation of the sympathetic division of the ANS, which becomes most pronounced at the age of 13 years. In the control group of children aged 13, the value of VR was 0.08±0.02, MA 61.7±2.1, SI 210.6±8.6, which corresponds to moderate sympathicotonia. By the end of puberty, in healthy children, the severity of sympathetic activation begins to decrease, and at the age of 15 years, vegetative balance is again observed. However, this pattern is violated in children with UCTD. Upon entering puberty, moderate activation of the sympathetic division of the ANS is already observed in children with UCTD. At the age of 11 years in this group, the value of VR is 0.06±0.02, MA 72.4±3.1, SI 211.2±8.6. At the age of 13, pronounced sympathicotonia is observed, which is confirmed by the values of VR - 0.04±0.01, MA 80.2±4.3 and SI 34.3±14.7. By the end of puberty in children with UCTD, in contrast to the control group, the analyzed parameters indicate not an equilibrium of the ANS, but the predominance of parasympathetic activation. The research provides an insight into heart rate variability in puberty-aged children with UCTD. It was established that healthy children enter puberty in a state of equilibrium of the autonomic nervous system, which in the middle of puberty is replaced by moderate sympathicotonia, and then returns to its original values. Children with the presence of UCTD enter puberty with moderately pronounced sympathicotonia, which gradually increases to pronounced values and is replaced by moderate vagotonia. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals The level of microelements and heterogeneity of joint hypermobility as an endophenotype of undifferentiated connective tissue dysplasia

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Luiza Z. Lukmanova ◽  
Rashit A. Davletshin ◽  
Rita I. Khusainova ◽  
Anton V. Tyurin
Keyword(s):  
Connective Tissue ◽  
Statistical Significance ◽  
Serum Magnesium ◽  
Colorimetric Method ◽  
Serum Zinc ◽  
Joint Hypermobility ◽  
Control Group ◽  
Serum Concentrations ◽  
Copper Zinc ◽  
Connective Tissue Dysplasia

Objective — The aim of the work was to study serum concentrations of magnesium, copper, zinc, phosphorus and calcium in individuals with undifferentiated connective tissue dysplasia (uCTD) and joint hypermobility (JH) in an isolated and combined state. Material and methods — the concentrations of magnesium, copper, zinc, phosphorus and calcium were measured by the direct colorimetric method in 55 people with joint hypermobility and in 34 – without hypermobility. Results — There were no significant differences between serum concentrations of microelementsin groups with and without JH. In patients with mild and severe uCTD significant decrease in serum magnesium concentrations was noted (U=2.12, p=0.034 and U=3.7, p=0.012). In patients with isolated JH significant serum zinc concentrationdecrease was revealed compared with the control group (U=3.12, p=0.022). Serum magnesium concentrations were reduced in all patients with uCTD and JH; in the groups with isolated dysplasia and combined pathology, the differences reached the level of statistical significance (U=2.78, p=0.024 and U=3.2, p=0.018). Conclusion — The study revealed significant associations of a decrease in serum magnesium concentrations with the development of uCTD in an isolated and combined with JH state and decrease in serum zinc concentrations with the development of isolated JH.

scholarly journals Are vitamin D and vitamin D receptor levels different in children with developmental dysplasia of the hip?

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Duran Topak ◽  
Muhammet Seyithanoğlu ◽  
Fatih Doğar ◽  
Ali Aydın Karadeniz ◽  
Burak Tanrıverdi ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Serum Levels ◽  
Developmental Dysplasia ◽  
Laboratory Method ◽  
Control Group ◽  
Healthy Children ◽  
Genetic Transmission ◽  
Healthy Control ◽  
Dysplasia Of The Hip

Abstract Introduction Developmental dysplasia of the hip (DDH) is a common disorder and associated with significant morbidity of the hip joint. Several risk factors have been identified for DDH. The aim of this study is to investigate whether vitamin D and vitamin D receptor (VDR) levels differ in children with DDH and whether they have an effect on DDH development. Materials and methods A total of 40 (17 males, 23 females; 9 right hips, 16 left hips, 15 bilateral hips) children who were treated for developmental dysplasia and 40 (23 males, 17 females) healthy children without any musculoskeletal system and metabolic disorders were included in this study between January and June 2019. Blood samples from the DDH and control groups of children were collected to measure the serum levels of vitamin D, VDR, calcium (Ca), phosphorus (P), and alkaline phosphatase (ALP). The levels of Ca, P, and ALP were analyzed using the automated standard spectrophotometric laboratory method. The levels of vitamin D and VDR in the samples were analyzed using enzyme-linked immunoassay. Results There were no significant differences in the serum levels of Ca, P, ALP, and vitamin D between the DDH and healthy groups (Ca 9.96 ± 0.47 vs. 9.92 ± 0.48 mg/dL, respectively, p = 0.721; P 5.3 ± 0.94 vs. 4.82 ± 0.88 mg/dL, respectively, p = 0.23; ALP 252.22 ± 170.15 vs. 245.3 ± 130.93 U/L, respectively, p = 0.839). However, serum VDR levels were significantly lower in children in the DDH group (5.77 ± 3.51 ng/mL) than in the healthy control group (9.25 ± 6.43 ng/mL) (p = 0.004). Conclusions In conclusion, we believe that low VDR levels can affect DDH regardless of the serum levels of Ca, P, ALP, and vitamin D. More comprehensive studies involving parents are needed to understand whether VDR levels mediate genetic transmission in DDH or not.

scholarly journals The role of endothelial dysfunction in children with pyelonephritis against fibrylogenesis disorders

2019 ◽  
Keyword(s):  
Connective Tissue ◽  
Pediatric Population ◽  
Control Group ◽  
Healthy Children ◽  
Urinary System ◽  
Endothelin 1 ◽  
Group I ◽  
Frequent Relapses ◽  
Connective Tissue Dysplasia

Annotation: The prevalence of microbial inflammatory diseases of the urinary system, according to epidemiological studies, is 29.0 per 1000 children. Over the past decades, an unfavourable tendency towards an increase in the pediatric population of chronic pathology has been observed, treatment complicated by a significant pathomorphosis of the disease. Aim of the research: analysis of the frequency of birth defects in the development of organs of the urinary system, as a visceral marker of violation of the fibrillogenase, in children with different variants of pyelonephritis. Materials and methods: 148 children with pyelonephritis from 3 to 18 years were examined. According to the results of catamnestic observation, they were divided into 2 groups: I - 92 people, children with pyelonephritis, in which catamnesis was diagnosed 3 or more episodes of recurrence of pyelonephritis in 2 years, II - 56 children with pyelonephritis, in which for 2 years no relapse of the disease was noted. The control group consisted of 65 somatically healthy children of the same age. All children had a routine comprehensive clinical and laboratory examination and clinical and laboratory markers of fibrillogenic disorder (phenotypic signs of undifferentiated connective tissue dysplasia (UCTD), excretion of oxyproline with urine) were established. Results: In children with recurrent pyelonephritis, phenotypic signs of undifferentiated connective tissue dysplasia. For this purpose, the activity of endothelin-1 fraction, alkaline phosphatase and serum creatine phosphokinase, excretion of creatinine and glycosaminoglycans with daily urine in children with pyelonephritis was studied. On average, the level of endothelin-1 in blood plasma in practically all children in group I was significantly higher (1.815±0.03 fmol/l, q=0.92, p≤0.01) more than in the 10th time, than in children with APN (0.179±0.02 fmol/l, q=0.78 p≤0.01) and healthy children (0.077±0.01 fmol/l, q=0.03). Conclusions: In children with recurrent pyelonephritis, compared with the data of children with acute non-recurrent pyelonephritis, phenotypic signs of undifferentiated dysplasia of connective tissue were significantly more marked. Thus, the negative role of UCTD in the course of pyelonephritis in children has been confirmed. It has been shown that UCTD in children with pyelonephritis is manifested not only by phenotypic features, but also by visceral, such as BD US, which leads to the chronization of the process with frequent relapses.

scholarly journals Distribution of prothrombotic polymorphisms in children with microcirculatory type of bleeding on the background of undifferentiated connective tissue dysplasia

2020 ◽  
Vol 23 (2) ◽  
pp. 85-94
Author(s):  
Людмила Анатольевна Строзенко ◽  
Евгений Васильевич Скударнов ◽  
Юрий Федорович Лобанов ◽  
Галина Ивановна Выходцева ◽  
Николай Алексеевич Дорохов ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Rare Allele ◽  
Dna Polymorphisms ◽  
Control Group ◽  
Healthy Children ◽  
Genetic Predictors ◽  
Homozygous Genotype ◽  
Platelet Receptor ◽  
Connective Tissue Dysplasia ◽  
Pai 1

Introduction. In patients with microcirculatory type of bleeding on the background of undifferentiated connective tissue dysplasia (UCTD), along with a tendency to bleeding, genetic predictors of thrombogenic risk are identified. Materials and methods. DNA samples of 92 adolescents (55 boys and 37 girls) aged from of 6 months to 18 years were used. The control group consisted of 115 children (I-II health groups). The analysis was based on the Real-Time PCR method using competing TagMan probes. The genetic testing of 12 allelic DNA polymorphisms was carried out. There was performed the analysis of laboratory and instrumental methods. The results were statistically processed with using the StatSoft Statistica 6.1 software package. Results. There was determined an increased prevalence of occurrence of the minor G(-455) allele of the gene of FGB fibrinogen, the minor allele (C807) of the gene of platelet receptor for ITGA2 collagen, and the rare homozygous 4G (-675) allele of the PAI-1 gene in patients compared with healthy children. Homozygous genotype (rare allele) 807TT of the ITGA2 gene of the platelet receptor for collagen and homozygous genotype 4G(-675)4G of the PAI-1 gene in patients with bleeding manifestations on the background of UCDT were detected significantly more often than in healthy children. In 76 (82.6%) children there were detected phenotypic signs of UCDT, their average number for each patient was of 3.2 ± 0.7. In the blood of sick children, there was a decrease in platelet aggregation by 2 and 3 inducers (epinephrine, ADP, collagen) and an increased concentration of homocysteine. Conclusion. The detection of hidden genetic predictors of thrombogenic risk in patients with microcirculatory type of bleeding against the background of UCDT is an indication for personification of treatment, since with an increase in the predictors of thrombophilia in such patients, the risk of thrombosis increases. In this case, the state of thrombotic or hemorrhagic predisposition should be determined in a timely manner, and hemostatic therapy with drugs that do not provoke thrombosis should be used against the background of angioprotectors.

scholarly journals Relevance of the Problem of Myopia in School-age Children with Signs of Undifferentiated Connective Tissue Dysplasia

2018 ◽  
Vol 15 (2S) ◽  
pp. 58-64
Author(s):  
V. V. Li ◽  
G. P. Smoliakova ◽  
V. V. Egorov ◽  
O. I. Kashura
Keyword(s):  
Connective Tissue ◽  
Choroidal Thickness ◽  
School Age Children ◽  
Comparative Characteristic ◽  
Control Group ◽  
Moderate Degree ◽  
Ophthalmological Examination ◽  
School Age ◽  
School Myopia ◽  
Connective Tissue Dysplasia

Purpose:to study the frequency and structure of undifferentiated connective tissue dysplasia (UCTD) in school-age children with myopia, their relationship to choroidal thickness and course of myopia.Patients and methods. The object of study was 120 children (240 eyes) aged 11–13 years with school axial myopia (axial length (AL) from 24.5 to 26.0 mm). Special ophthalmological examination included optical coherent tomography of macular zone (“RTVue 100” Optovue, USA) and “Cross Line” scan for measuring choroidal thickness in foveal area and 1000 μm from it in nasal and temporal regions.Results.According to studies, the phenotypic signs of UCTD were diagnosed in 56 children (46.7%) with school myopia, the largest group included phenotypic signs of locomotor syndrome; 14 children (25%) had a weak degree of UCTD, 34 children (60.7%) — moderate degree and 8 children (14.3%) — pronounced degree. Comparative characteristic of changes in choroidal thickness detected a high degree of interrelation between the severity of clinical manifestations of UCTD and the level of decrease in blood-flow in the choroid. In children of the main group with signs of UCTD, the annual growth of AL exceeded the same parameters in children of the control group by more than 2.5 times (p < 0.05); due of accumulation of phenotypic signs of UCTD, a more noticeable tendency to decrease of choroidal thickness and the increase of AL was observed (p < 0.05). The statistical analysis confirmed the presence of significant negative correlation between the decrease in average thickness index in segment of the macular map and the degree of increase of AL (p < 0.05).Conclusions. According to results of diagnostic screening, in 46.7% children with school myopia, we detected phenotypic signs of UCTD. The method of optical coherence tomography showed that with increasing severity of UCTD, indexes of choroidal thickness in the macular zone are significant decreased. In the catamnesis (duration 1 year), it was found that in children with myopia with moderate and pronounced degrees of UCTD, increase of AL is associated with degree of thinning choroidal thickness, which indicates violations of biomechanical status of sclera. 

scholarly journals Risk Factor Assessment and a Ten-Year Experience of DDH Screening in a Well-Child Population

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Bahar Kural ◽  
Esra Devecioğlu Karapınar ◽  
Pınar Yılmazbaş ◽  
Tijen Eren ◽  
Gülbin Gökçay
Keyword(s):  
Risk Factors ◽  
Multiple Pregnancy ◽  
Breech Presentation ◽  
Clinical Findings ◽  
Developmental Dysplasia ◽  
Control Group ◽  
Case Group ◽  
Retrospective Case ◽  
Female Sex ◽  
Dysplasia Of The Hip

Aim. Risk based screening for developmental dysplasia of the hip (DDH) with ultrasound is common. However, risk factors vary from one country to the other since data are insufficient to give clear recommendations. We aimed to evaluate the risk factors for developmental dysplasia of the hip (DDH). Methods. In this retrospective case-control study, the health records of all children, who were followed up between 2004 and 2014 at a well-child unit, were investigated for the diagnosis of DDH in Turkey. Of 9758 children, 57 children were found to have abnormal ultrasonographic findings (according to Graf classification) and these constituted the case group. As the control group, healthy 228 children who matched the case children in birth months were selected. Two groups were compared for the risk factors. Results. A total of 19516 hips of 9758 children were examined for DDH. 97 hips of 57 children were found to have abnormal ultrasonographic findings. When the two groups were compared, breech presentation, multiple pregnancy, and torticollis were identified as risk factors. The female sex was also found to have a significantly high prevalence among the children in the case group. Limited hip abduction, positive Ortolani, and Barlow signs were important clinical findings in the case group. Conclusion. According to our findings, breech presentation, female sex, torticollis, and multiple pregnancy were found to be the risk factors of this disorder. Infants with these risk factors should be investigated carefully for DDH.

scholarly journals Morphological signs of connective tissue dysplasia as predictors of frequent post-exercise musculoskeletal disorders

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
V. N. Nikolenko ◽  
M. V. Oganesyan ◽  
A. D. Vovkogon ◽  
Yu Cao ◽  
A. A. Churganova ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Disorders ◽  
Varicose Veins ◽  
Morphological Characteristics ◽  
Control Group ◽  
Post Exercise ◽  
Connective Tissue Dysplasia ◽  
Physiological Evaluation ◽  
Severe Degree ◽  
Study Participants

Abstract Background Connective tissue dysplasia (CTD) is a risk factor for musculoskeletal disorders. Changes caused by disorganization of collagen and elastin fibers lead to the inability of withstanding heavy mechanical stress. In clinical practice, diagnosis of these disorders depends on physical and anthropomorphic evaluation. Methods Forty-eight patients with frequent post-exercise musculoskeletal disorders were evaluated for CTD. The control group included 36 healthy participants. Both groups were evaluated via therapeutic examination with assessment of anthropometric indicators and physical-physiological evaluation, surveying and gathering of anamnesis. Based on testing results, study participants were evaluated on CTD presence and risk factors. Results All experimental group patients had connective tissue dysplasia of moderate and severe degree, with a total score of 49.44 ± 13.1. Certain morphological characteristics showed prevalence, allowing to determine pathognomonic predictors of high predisposition to frequent post-exercise musculoskeletal disorders. Back pain (100%), asthenic syndrome and kyphotic spinal deformation (75%), high gothic palate, hypermobility of joints and the auricles, excessive elasticity (63%), varicose veins of the lower extremities (56%) and hemorrhoids (56%), changes in the shape of the legs and temporomandibular joint (50%) showed to be significant clinical factors indicating possible connective tissue dysplasia. Conclusions The presence of these diagnostically significant morphological signs of CTD in humans is a pathognomonic predictor of a high predisposition to frequent injuries. Their early detection helps promote proper appointment of adequate physical activity regimen and develop treatment for the underlying cause.

Chloroacetonitrile induces intrauterine growth restriction and musculoskeletal toxicity in fetal mouse

2008 ◽  
Vol 24 (8) ◽  
pp. 511-518 ◽  
Author(s):  
AE Ahmed ◽  
HM El-Mazar ◽  
AA Nagy ◽  
AB Abdel-Naim
Keyword(s):  
Skeletal Muscle ◽  
Body Weight ◽  
Connective Tissue ◽  
Musculoskeletal System ◽  
Axial Skeleton ◽  
Epidemiological Studies ◽  
Control Group ◽  
Intrauterine Exposure ◽  
Calcified Cartilage ◽  
High Doses

Chloroacetonitrile (CAN) is a by-product of chlorination of drinking water. Epidemiological studies indicate that it might present a hazard to human health. The present study was designed to investigate the potential adverse effects of intrauterine exposure to CAN on fetal body weight and development of the musculoskeletal system in mice. At gestation day 6, pregnant mice were given CAN (12.5, 25, or 50 mg/kg/day) till gestation day 18. Uteri were then examined and live fetuses were collected, weighed, and evaluated for any malformations. High doses of CAN (50 mg/kg) significantly elevated fetal anomalies and reduced fetal viability. Chloroacetonitrile at a dose of 25 mg/kg did not affect fetal viability and significantly reduced fetal body weight. Subsequent experimentation was performed using this dose level. Histological examination of fetal axial skeleton indicated that CAN resulted in delayed appearance of endochondral ossification centers, widening of the vertebrae, and destruction of the calcified zone. In addition, the skeletal muscle fibers were markedly distorted, were small in size, and were widely separated by connective tissue. Both connective tissue perimysium and endomysium were less cellular compared with control sections. The histological findings were further confirmed by assessing the morphometric changes. Ratios of calcified cartilage to non-calcified cartilage areas in both control and CAN-exposed groups were determined. Also, skeletal muscle fiber diameter of CAN-exposed fetuses was significantly decreased compared with control group. In conclusion, intrauterine exposure to low levels of CAN decreases fetal body weight and induces malformations in the musculoskeletal system in mice.

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