Association Analysis of GDF5 and Contributing Factors in Developmental Dysplasia of the Hip in Infants

2021 ◽  
Vol 23 (5) ◽  
pp. 335-339
Author(s):  
Stefan Harsanyi ◽  
Radoslav Zamborsky ◽  
Lubica Krajciova ◽  
Daniel Bohmer ◽  
Milan Kokavec ◽  
...  
Keyword(s):  
Association Analysis ◽  
Joint Damage ◽  
Female Gender ◽  
Developmental Dysplasia ◽  
Genetic Component ◽  
Taqman Assay ◽  
Contributing Factors ◽  
Chi Square ◽  
Dysplasia Of The Hip ◽  
Gdf5 Gene

Background. Developmental dysplasia of the hip (DDH) is a developmental disorder which is reported to be associated with hip instability. When untreated, it can lead to irreversible joint damage. DDH is known to be a multifactorial disease involving genetic, mechanical and environmental factors. The greatest causative potential is attributed to the genetic component. Growth Differentiation Factor 5 (GDF5) is among the most studied genes associated with processes of regeneration and maintenance of joints. The aim of this work was to analyse the association of SNP rs143383 in the GDF5 gene and the occurrence of DDH, along with association with various contributing factors in the Caucasian population. Material and methods. A total of 118 samples were analysed for the presence of the mutation. DNA was isolated from all individuals from peripheral blood. SNP rs143383 in the GDF5 gene was genotyped using the TaqMan assay. A standard chi-square test was used to compare allele and genotype distributions in patients and healthy controls. Results. The association analysis of genotypes of DDH and rs143383 revealed a significant association. Also, the association of GDF5 and selected contributing factors was statistically significant in female gender (p=0.002), family history (p<0.001), count of pregnancy (p=0.009), laterality of hip involvement and initial US examination. Conclusions. 1. The results indicate an important effect of rs143383 polymorphism in the GDF5 gene on DDH development. 2. However, our results also suggest that rs143383 is not the only contributing factor in the genetic component of DDH.

scholarly journals Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 986
Author(s):  
Stefan Harsanyi ◽  
Radoslav Zamborsky ◽  
Lubica Krajciova ◽  
Milan Kokavec ◽  
Lubos Danisovic
Keyword(s):  
Autosomal Dominant ◽  
Developmental Dysplasia ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Dominant Type ◽  
Skeletal Disorders ◽  
Autosomal Dominant Type ◽  
Dysplasia Of The Hip ◽  
Il6 Gene ◽  
Gdf5 Gene

Background: Developmental dysplasia of the hip (DDH) is one of the most prevalent skeletal disorders. DDH is considered a pathologic condition with polygenic background, but environmental and mechanic factors significantly contribute to its multifactorial etiology. Inheritance consistent with autosomal dominant type has also been observed. Single-nucleotide polymorphisms (SNPs) in various genes mostly related to formation of connective tissue are studied for a possible association with DDH. Methods: We genotyped three SNPs, rs1800796 located in the promoter region of the IL6 gene, rs143383 located in the 5′ untranslated region (UTR) of the GDF5 gene and rs726252 located in the fifth intron of the PAPPA2 gene. The study consisted of 45 subjects with DDH and 85 controls from all regions of Slovakia. Results: Association between DDH occurrence and studied genotypes affected by aforementioned polymorphisms was confirmed in the case of rs143383 in the GDF5 gene (p = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of IL6 and PAPPA2, we found no association with DDH (p = 0.363 and p = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and GDF5 polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.

scholarly journals Early detection of developmental dysplasia of hip by ultrasound

2019 ◽  
pp. 112070001987968 ◽  
Author(s):  
Zita Gyurkovits ◽  
Gellért Sohár ◽  
Anna Baricsa ◽  
Gábor Németh ◽  
Hajnalka Orvos ◽  
...  
Keyword(s):  
Risk Factors ◽  
Positive Family History ◽  
Breech Presentation ◽  
Female Gender ◽  
Developmental Dysplasia ◽  
Developmental Dysplasia Of Hip ◽  
Graf Method ◽  
Hip Ultrasound ◽  
A Prospective Study ◽  
Dysplasia Of The Hip

Objective: To assess the effectiveness of early universal ultrasound (US) screening of developmental dysplasia of the hip (DDH). Study design: A prospective study of universal hip screening of all mature neonates was conducted from 2012 to 2013, at the Department of Obstetrics and Gynaecology, University of Szeged; 1636 newborns (3272 hips) had clinical examinations and hip ultrasound by the Graf method within the1st 3 days of life. Prevalence of DDH, risk factors, sensitivity and specificity of clinical examinations were evaluated. Results: At the 1st US, 70 of the examined 3272 hips (2.14%) were found to be positive. According to Graf categories, the following distribution was observed: type II C, 21 hips (30.0%); D, 24 hips (34.28%); III, 24 hips (34.28%); IV, 1 hip (1.44%). Regarding the risk factors, female gender, breech presentation and positive family history proved to be significant. Interestingly, 28 (50.90%) of the 55 newborns with DDH had neither positive physical signs nor any risk factors, except being female. The physical examination was calculated for sensitivity (20.0%) and specificity (98.34%). Conclusions: In our 1-year period study, 50.9% of the newborns with DDH had neither any positive physical signs nor any risk factors, except being a female. In contrast, early universal US screening of the hip facilitated to diagnose all cases with hip dysplasia. Hip sonography is an effective mode of prevention in orthopaedics, however further studies are needed to compare the rates of operative procedures in selective versus universal screening models.

scholarly journals Psychological Health Among Armed Forces Doctors During COVID-19 Pandemic in India

2020 ◽  
Vol 42 (4) ◽  
pp. 374-378 ◽  
Author(s):  
Simmi Gupta ◽  
Kinshuk Kohli ◽  
P Padmakumari ◽  
Prashant Kumar Dixit ◽  
Ajay Shankar Prasad ◽  
...  
Keyword(s):  
Depressive Symptoms ◽  
Marital Status ◽  
Psychological Health ◽  
Depression Scale ◽  
Doctoral Degree ◽  
Armed Forces ◽  
Female Gender ◽  
Education Level ◽  
Contributing Factors ◽  
Chi Square

Background: A pandemic poses a significant challenge to the healthcare staff and infrastructure. We studied the prevalence of anxiety and depressive symptoms among armed forces doctors in India during the COVID-19 pandemic and the factors that contribute to these symptoms. Methods: The study was conducted from March 30, 2020, to April 2, 2020, using a self-administered questionnaire questionnaire using the hospital anxiety and depression scale (HADS), which was sent through Google Forms. Responses were received from 769 respondents. Data were analyzed for demographic details and HADS scores using the chi-square test and backward logistic regression. Results: Anxiety and depressive symptoms were seen in 35.2% and 28.2% of the doctors, respectively. In doctors with anxiety symptoms, significant associations were observed with age (20–35 years, 39.4%, P = 0.01), gender (females, 44.6%, P < 0.001), duration of service (0–10 years, 38%, P = 0.03), and clinical versus non-clinical specialties (non-clinical, 41.3%, P < 0.001) as opposed to marital status, education level, and current department of work. In doctors with depressive symptoms, significant associations were observed with age (P = 0.04), clinical versus non-clinical specialties (P < 0.001), duration of service (0–10 years, 30.1%, P = 0.03), and doctoral degree (P = 0.04) as opposed to gender, marital status, education level, and current working department. Conclusion: The study revealed a high prevalence of anxiety and depressive symptoms among armed forces doctors. The main contributing factors are female gender, young age group, non-clinical specialties, and having a doctoral degree.

scholarly journals A Replication Study for the Association of rs726252 in PAPPA2 with Developmental Dysplasia of the Hip in Chinese Han Population

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Dongquan Shi ◽  
Wei Sun ◽  
Xingquan Xu ◽  
Zheng Hao ◽  
Jin Dai ◽  
...  
Keyword(s):  
Hip Dislocation ◽  
Developmental Dysplasia ◽  
Replication Study ◽  
Chinese Han Population ◽  
Taqman Assay ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Han Population ◽  
Significant Difference ◽  
Dysplasia Of The Hip

Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs726252 with DDH, we conducted a case-control study in a larger number of subjects. We genotyped rs726252 in 697 DDH subjects and 707 control subjects by TaqMan assay. The association between this SNP and DDH was evaluated statistically. No significant difference was found in any comparison of genotype distribution nor allele frequency between cases and controls. Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable. The association between PAPPA2 and DDH should be evaluated by additional studies.

scholarly journals Pseudoaneurysm Accompanied by Crowe Type IV Developmental Dysplasia of the Hip: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Hirotake Yo ◽  
Hirotsugu Ohashi ◽  
Fumiaki Inori ◽  
Yoshiaki Okajima ◽  
Yoshio Matsui ◽  
...  
Keyword(s):  
Valve Replacement ◽  
Anticoagulation Therapy ◽  
Developmental Dysplasia ◽  
Chief Complaint ◽  
Contributing Factors ◽  
Type Iv ◽  
Contrast Enhanced Ct ◽  
Contrast Enhanced ◽  
History Of ◽  
Dysplasia Of The Hip

We report the case of a 72-year-old woman whose pseudoaneurysm was difficult to diagnose and treat. The patient had a history of congenital dislocated hip and was undergoing anticoagulation therapy with warfarin due to the mitral valve replacement. Her chief complaint was pain and enlargement of the left buttock, and the laboratory tests revealed severe anemia. However, her elderly depression confused her chief complaint, and she was transferred to a psychiatric hospital. Two months after the onset of the symptoms, she was finally diagnosed with a pseudoaneurysm by contrast-enhanced CT and angiography. IDC coils were used for embolization. A plain CT showed hemostasis as well as a reduced hematoma at 2 months after the embolization. The possible contributing factors for the pseudoaneurysm included bleeding due to warfarin combined with an intramuscular hematoma accompanied by Crowe type IV developmental dysplasia of the hip that led to an arterial rupture by impingement between pelvis and femoral head. Since the warfarin treatment could not be halted due to the valve replacement, embolization was chosen for her treatment, and the treatment outcome was favorable.

Developmental dysplasia of the hip and associated risk factors in Saudi children: A retrospective study

2021 ◽  
pp. 1-8
Author(s):  
Alaa I. Ibrahim ◽  
Eman M. Mortada ◽  
Saeed Abdullah Alqahtani ◽  
Haya Alkathri ◽  
Rania Alsayyed ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Positive Family History ◽  
Hip Dislocation ◽  
Breech Presentation ◽  
Female Gender ◽  
Developmental Dysplasia ◽  
P Values ◽  
Dysplasia Of The Hip ◽  
Associated Abnormalities

BACKGROUND: Studies investigating the association between developmental dysplasia of the hip (DDH) and risk factors in Saudi Arabia are rare. OBJECTIVE: Investigate the association between DDH and several risk factors among Saudi children. METHODS: The medical records of 82 children born in or admitted to King Abdul Aziz Medical City in Riyadh, Saudi Arabia with clinical suspicion of hip dislocation (HD) were included. The association between DDH and the following risk factors was investigated: age < 3 y, female-gender, twinning, first-born child, C-section, breech presentation, prematurity, positive family history and presence of associated abnormalities. RESULTS: HD was confirmed in 73 (89%) children (Positive HD) and excluded in 9 (11%) children (Negative HD). Eleven (13.4%) children were excluded from the positive cases as it was confirmed that they have paralytic hip dislocation not DDH. DDH was confirmed in 62 children (75.6%). The Chi square test (χ2) and odds ratios (OR) revealed that the positive family history, female-gender, age < 3 years, and presence of associated abnormalities had significant associations with the presence of DDH with P values and OR equal 0.00 (16.4), 0.002 (3.1), 0.005 (2.6), and 0.04 (1.9) respectively. Breech presentation, twinning, first-born children, prematurity, and C-section were not associated with DDH with P values and OR equal 0.93 (1.1), 0.46 (0.4), 0.11 (0.4), 0.08 (0.3), and 0.002 (0.3) respectively. CONCLUSIONS: Positive family history, female-gender, age < 3 years, and presence of associated abnormalities had approximately 16, 3, 2.5, and 2 times increased risk for DDH.

Age as a predictor of additional surgeries following initial closed reduction for children with developmental dysplasia of the hip: the 10-year experience of a national paediatric orthopaedic unit

2021 ◽  
pp. 112070002110620
Author(s):  
Robert J Hurley ◽  
Martin S Davey ◽  
Matthew G Davey ◽  
Patrick Groarke ◽  
Jim Kennedy ◽  
...  
Keyword(s):  
Closed Reduction ◽  
Surgical Intervention ◽  
Neuromuscular Disorders ◽  
Multivariable Analysis ◽  
Significant Proportion ◽  
Female Gender ◽  
Developmental Dysplasia ◽  
Operative Intervention ◽  
Paediatric Orthopaedic ◽  
Dysplasia Of The Hip

Background and purpose: Dislocated and unstable hip joints which do not stabilize in an orthosis in the neonatal period require operative intervention to achieve a stable concentric joint. The aim of this study is to assess the requirement for further operative intervention in patients who have undergone successful closed reduction to treat developmental dysplasia of the hip (DDH). Methods: We identified all patients who had undergone closed reduction of an unstable hip joint at our institution within 10 years, with further identification of patients who underwent a second procedure. We used logistic regression to evaluate correlation between age at closed reduction and the probability of secondary procedures. Results: A total of 694 patients (84.5% females) who underwent a closed reduction in the study period were identified. 235 were excluded (patients with underlying genetic conditions, neuromuscular disorders, syndromic disorders). 250 patients had closed reductions only. 209 patients (45.5%) had at least 1 secondary procedure after their initial closed reduction. In multivariable analysis, female gender (OR 0.310; 95% CI, 0.108–0.885; p = 0.029) and patients aged ⩽12 months at the time of first surgery (OR 0.055; 95% CI, 0.007–0.423; p = 0.005) independently predicted being less likely to require a second surgery for their DDH. Discussion: In conclusion, we found that a significant proportion of children (45.5%) who underwent closed reduction of a dislocated hip required additional surgical intervention in early childhood. Our data show that those children who undergo later closed reduction of a dislocated hip in DDH after 12 months of age, and male infants, have a significantly higher incidence of additional surgical intervention.

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