scholarly journals Prenatal murine skeletogenesis partially recovers from absent skeletal muscle as development progresses

2022 ◽  
Author(s):  
Vivien Sotiriou ◽  
Saima Ahmed ◽  
Niamh Nowlan

Skeletal muscle contractions are critical for normal growth and morphogenesis of the skeleton, but it is unclear how the detrimental effects of absent muscle on the bones and joints change over time. Joint size, shape and cavitation, and rudiment length and mineralisation were assessed in multiple rudiments at two developmental stages (Theiler Stage (TS)24 and TS27) in the splotch-delayed 'muscleless limb' mouse model and littermate controls. As development progressed, the effects of absent muscle on all parameters except for cavitation become less severe. All major joints in muscleless limbs were qualitatively and quantitatively abnormal in shape at TS24, while, by TS27, most muscleless joint shapes were normal, or nearly normal. In contrast, any joints which were fused at TS24 did not cavitate by TS27. Therefore, recovery in joint shape over development occurred despite absent cavitation. Mineralisation showed the most pronounced changes between TS24 and TS27 in the muscleless limbs. At TS24, all muscleless rudiments studied had less mineralisation than the controls, while at TS27, muscleless limb rudiments had either the same or significantly more mineralisation than controls of the same age. We conclude that the effects of absent muscle on prenatal murine skeletogenesis are most pronounced in early skeletal development and reduce in severity prior to birth. Understanding how mammalian bones and joints continue to develop in an environment without muscle contractions, but with mechanical stimulation due to the movement of the mother, provides important insights into conditions affecting human babies such as developmental dysplasia of the hip and arthrogryposis.

2019 ◽  
Author(s):  
Vivien Sotiriou ◽  
Rebecca A Rolfe ◽  
Paula Murphy ◽  
Niamh C Nowlan

AbstractFetal movements are essential for normal development of the human skeleton. When fetal movements are reduced or restricted, infants are at higher risk of developmental dysplasia of the hip and arthrogryposis (multiple joint contractures). Joint shape abnormalities have been reported in mouse models with abnormal or absent musculature, but the effects on joint shape in such models have not been quantified or characterised in detail. In this study, embryonic mouse forelimbs and hindlimbs at a single developmental stage (Theiler Stage 23) with normal, reduced or absent muscle were imaged in 3D. Skeletal rudiments were virtually segmented and rigid image registration was used to reliably align rudiments with each other, enabling repeatable assessment and measurement of joint shape differences between normal, reduced-muscle and absent muscle groups. We demonstrate qualitatively and quantitatively that joint shapes are differentially affected by a lack of, or reduction in, skeletal muscle, with the elbow joint being the most affected of the major limb joints. Surprisingly, the effects of reduced muscle were often more pronounced than those of absent skeletal muscle, indicating a complex relationship between muscle mass and joint morphogenesis. These findings have relevance for human developmental disorders of the skeleton in which abnormal fetal movements are implicated, particularly developmental dysplasia of the hip and arthrogryposis.


2019 ◽  
Vol 7 ◽  
pp. 205031211983601 ◽  
Author(s):  
Tina Samantha Gambling ◽  
Andrew Long

Objectives: Symptomatic developmental dysplasia of the hip can present in the young, active adult patient and can lead to severe pain and disability at a young age. The overall aim of the study was to deepen the understanding of the impact of developmental dysplasia of the hip on young adults’ quality of life and psycho-social well-being, focusing on how differential access to early diagnosis impacted the trajectory of the disease and treatment options. Methods: We conducted semi-structured interviews and gathered online stories from 97 participants. A narrative and thematic analysis was used to integrate the dataset producing a multi-dimensional view. Results: A narrative plot showing how events unfolded over time was identified for each participant. Two common plots were identified: Plot 1 focused around those participants who received a prompt diagnosis and were treated within 12 months of diagnosis (n = 22) and Plot 2 focused around those who experienced a late/delayed diagnosis (mean = 8 years; range = 12–364 months) (n = 75) and thus delayed treatment. Participants in Plot 2 became more debilitated over time and experienced chronic hip pain for a prolonged period before an accurate diagnosis and/or intervention was made. It was clear from the narratives when pain persists over time, participants’ quality of life and psycho-social well-being were affected. Conclusions: Developmental dysplasia of the hip is an under-recognised condition; more research is needed to develop a clear clinical picture that can be used to alert frontline health professionals to the potential for developmental dysplasia of the hip so that they can promptly diagnose patients and refer them to specialist centres. Patients can also experience a profound impact on their quality of life and psycho-social well-being. Patients actively seek information from support groups about all aspects of their condition. Further research is required to determine the long-term impact of developmental dysplasia of the hip to develop evidence-based information for clinicians and patients.


2020 ◽  
Vol 102-B (5) ◽  
pp. 618-626 ◽  
Author(s):  
Weizheng Zhou ◽  
Wudbhav N. Sankar ◽  
Fangfang Zhang ◽  
Lianyong Li ◽  
Lijun Zhang ◽  
...  

Aims The goal of closed reduction (CR) in the treatment of developmental dysplasia of the hip (DDH) is to achieve and maintain concentricity of the femoral head in the acetabulum. However, concentric reduction is not immediately attainable in all hips and it remains controversial to what degree a non-concentric reduction is acceptable. This prospective study is aimed at investigating the dynamic evolution of the hip joint space after CR in DDH using MRI. Methods A consecutive series of patients with DDH who underwent CR since March 2014 were studied. Once the safety and stability were deemed adequate intraoperatively, reduction was accepted regardless of concentricity. Concentricity was defined when the superior joint space (SJS) and medial joint space (MJS) were both less than 2 mm, based on MRI. A total of 30 children, six boys and 24 girls, involving 35 hips, were recruited for the study. The mean age at CR was 13.7 months (3.5 to 27.6) and the mean follow-up was 49.5 months (approximately four years) (37 to 60). The joint space was evaluated along with the interval between the inverted and everted limbus. Results Only three hips (8.6%) were fully concentric immediately after CR. During follow-up, 24 hips (68.6%) and 27 hips (77.1%) became concentric at six months and one year, respectively. Immediate SJS after CR decreased from 3.51 mm to 0.79 mm at six months follow-up (p = 0.001). SJS in the inverted group decreased from 3.75 mm to 0.97 mm at six months follow-up. SJS or MJS in the everted group were less than those in the inverted group at each time of follow-up (p = 0.008, p = 0.002). Conclusion A stable, safe but non-concentric reduction achieved before the age of two years appears to improve over time with nearly 80% of hips becoming fully concentric by one year. Cite this article: Bone Joint J 2020;102-B(5):618–626.


2018 ◽  
Vol 12 (4) ◽  
pp. 331-341 ◽  
Author(s):  
S. L. Weinstein ◽  
L. A. Dolan

Background Proximal femoral growth disturbance (PFGD) can be the most devastating complication of the treatment of development dysplasia of the hip. The reported incidence ranges from 0% to 73%. The condition involves varying degrees of growth disturbances of the femoral capital epiphysis, the physeal plate or both. Purpose This manuscript will discuss normal growth and development of the hip, the blood supply to the upper end of the femur, pathological and radiographic changes, classifications used to describe PFGD and, most importantly, the potential causes of these growth disturbances and the authors’ strategies for avoiding PFGD.


2017 ◽  
Vol 46 (1) ◽  
pp. 54-61 ◽  
Author(s):  
Nabil Alassaf

Objective Closed reduction (CR) is a noninvasive treatment for developmental dysplasia of the hip (DDH), and this treatment is confirmed intraoperatively. This study aimed to develop a preoperative estimation model of the probability of requiring open reduction (OR) for DDH. Methods The study design was cross-sectional by screening all patients younger than 2 years who had attempted CR between October 2012 and July 2016 by a single surgeon. Potential diagnostic determinants were sex, age, side, bilaterality, International Hip Dysplasia Institute (IHDI) grade, and acetabular index (AI). An intraoperative arthrogram was the reference standard. A logistic regression equation was built from a reduced model. Bootstrapping was performed for internal validity. Results A total of 164 hips in 104 patients who met the inclusion criteria were analysed. The prevalence of CR was 72.2%. Independent factors for OR were older age, higher IHDI grade, and lower AI. The probability of OR = 1/[1 + exp − (−2.753 + 0.112 × age (months) + 1.965 × IHDI grade III (0 or 1) + 3.515 × IHDI grade IV (0 or 1) − 0.058 × AI (degrees)]. The area under the curve was 0.79. Conclusion This equation is an objective tool that can be used to estimate the requirement for OR.


Author(s):  
Qian Hui Chew ◽  
Yvonne Steinert ◽  
Kang Sim

Abstract Introduction Conceptual frameworks for professional identity (PI) formation highlight the importance of developmental stages and socialization as the learner progresses from legitimate peripheral to full participation. Based on extant literature and clinical impressions, the authors aimed to explore factors associated with PI formation in psychiatry residents over time, and hypothesized that time in training, seniority status, and duration of exposure to psychiatry prior to residency would be associated with PI formation. Methods Eighty out of 96 psychiatry residents (response rate, 83.3%) from the National Psychiatry Residency Program in Singapore participated and rated their PI development using the Professional Self Identity Questionnaire (PSIQ) across four timepoints from January 2016–December 2019. The residents were classified as junior (first 3 years) or senior residents (years 4–5). Linear mixed model analyses were conducted, with time in training, seniority status (junior versus senior residents), duration of psychiatry postings prior to residency, and their interaction as associated factors with PI over time. Results Time in training, seniority, and duration of psychiatry postings before residency (all p < 0.01) were significantly associated with higher PSIQ scores at baseline. Over time, although all residents had increases in PSIQ scores, this rate of change did not differ significantly between junior and senior residents. Discussion Exposure to psychiatry postings before residency, time in learning, and seniority are factors which influence PI development in residents. This has implications for psychiatry residency selection and training, adequate clinical exposure during training rotations, and continual support for new and senior residents to foster PI formation over time.


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