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Cureus Feb 2024Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of...
PURPOSE
Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of clubfoot in patients with AMC is notoriously challenging, with a higher likelihood of recurrence than idiopathic clubfoot, which can be treated using the Ponseti technique to avoid or delay more invasive procedures. The purpose of this study is to determine the utility of multiple serial casting as a treatment of clubfoot in AMC using Pirani scores as an objective measure of deformity.
METHODS
Pirani scores were retrospectively collected from 17 AMC patients with a total of 30 clubfeet and two years follow-up from initiation of treatment. Patients with a minimum of three casting series were included. Pre-treatment and post-treatment deformity scores were examined across casting series using analysis of variance (ANOVA) statistical analysis.
RESULTS
The first series pre-treatment Pirani score improved from 4.80±1.54 to 1.68±1.48 (p<0.001). The second series improved from 4.23±1.03 to 2.72±0.916 (p<0.001). The third series had the smallest improvement from 3.87±1.07 to 2.82±1.02 (p<0.001). Change in Pirani scores showed a significant decrease from the first series to the second (p=0.001) and third (p<0.001). In addition, the number of casting days was found to significantly affect the change in scores during the third series (p=0.038).
CONCLUSIONS
The Ponseti technique can improve clubfoot in AMC as measured by the Pirani score. Data shows that early intervention yields better results, with a diminished yet effective ability to elicit change over time.
PubMed: 38505444
DOI: 10.7759/cureus.54398 -
BMC Pediatrics Mar 2024Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic...
BACKGROUND
Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies.
METHODS
Trio-based whole-exome sequencing (WES) was performed for the parents and the recent fetus to detect the genetic cause for fetus phenotype.
RESULTS
A novel variant, NM_012398.3: c.949_952dup, p.S318Ifs*28 and a previously reported variant, c.688_689del, p.G230Qfs*114 (ClinVar database) in PIP5K1C, were detected in the individuals, and these variants were inherited from the mother and father, respectively. We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiffness in the limbs, extended knees, persistently closed hands and overlapping fingers, which have not been delineated detailedly in previously reported LCCS3 individuals. Furthermore, novel phenotype, bilateral dilated lateral ventricles, was revealed in one fetus.
CONCLUSIONS
These findings expanded the genetic variant spectrum of PIP5K1C and enriched the clinical features of LCCS3, which will help with the prenatal diagnosis and genetic counseling for this family.
Topics: Female; Humans; Pregnancy; China; Contracture; Muscular Atrophy; Pedigree
PubMed: 38491417
DOI: 10.1186/s12887-024-04674-6 -
Cureus Feb 2024Arthrogryposis multiplex congenita (AMC) is a group of conditions characterized by multiple joint contractures. This rare disorder causes stiffness of joints, limiting...
Arthrogryposis multiplex congenita (AMC) is a group of conditions characterized by multiple joint contractures. This rare disorder causes stiffness of joints, limiting the range of motion and negatively impacting activities of daily living (ADL). This case reports a 45-year-old male with AMC who was referred to physical medicine and rehabilitation (PMR). He had a limited range of movement in multiple joints and global muscle weakness. However, ADL were feasible, including walking. The patient had an unsteady barefoot gait, causing claudication, which improved significantly with adapted shoes. The primary goal of treatment is to improve the quality of life (QoL), and proper management should be promptly initiated. AMC requires a multidisciplinary approach to care with three mainstays of treatment: rehabilitation, orthoses, and corrective surgeries. Patients should be followed up periodically by their family doctors, and PMR evaluations and rehabilitation should be provided as needed. An orthopedic surgery consultation may be required for surgical interventions to provide optimal outcomes and augment the QoL.
PubMed: 38481879
DOI: 10.7759/cureus.53993 -
Scars, Burns & Healing 2024Burns are most prevalent in low- and middle-income countries but the risk factors for burn contractures in these settings are poorly understood. There is some evidence...
INTRODUCTION
Burns are most prevalent in low- and middle-income countries but the risk factors for burn contractures in these settings are poorly understood. There is some evidence from low- and middle-income country studies to suggest that non-medical factors such as socio-economic and health system issues may be as, or possibly more, important than biomedical factors in the development of post-burn contractures.
METHODS
Four cases are presented to illustrate the impact of non-biomedical factors on contracture outcomes in a low-income setting. The cases were drawn from participants in a cross-sectional study which examined risk factors for contracture in Bangladesh.
DISCUSSION
The two cases had similar burns but different standards of care for socio-economic reasons, leading to very different contracture outcomes The two cases both had access to specialist care but had very different contracture outcomes for non-medical reasons. The risk factors and contracture outcomes in each case are documented and compared.
CONCLUSION
The impact of non-biomedical factors in contracture development after burns in low- and middle-income countries is highlighted and discussed.
LAY SUMMARY
Burns are common in low- and middle-income countries (LMICs) but the risk factors for burn contractures in these settings are poorly understood. Burn contractures are formed when scarring from a burn injury is near or over a joint and results in limited movement. There is some evidence from LMIC studies which suggests that non-medical factors such as socio-economic (e.g., household income, level of education) and health system issues (e.g., whether specialist burn care could be accessed) may be as, or possibly more, important than non-medical factors (such as the type and depth of burn and the treatments received) in the development of contractures following burn injuries.Four cases are presented to illustrate the impact of non-biomedical factors on contracture outcomes in a low-income setting. The cases were drawn from participants in a larger study which examined risk factors for contracture in Bangladesh. Two cases had similar burns but different standards of care and different outcomes. Two cases had similar access to specialist care but very different outcomes for non-medical reasons. The risk factors present and contractures outcomes in each case are documented and compared.The importance of non-biomedical factors in contracture development after burns in LMICs is highlighted and discussed.
PubMed: 38481753
DOI: 10.1177/20595131241236190 -
Cureus Feb 2024Arthrogryposis multiplex congenital (AMC) is a congenital disorder diagnosed with extremity contractures, restricted joint range of motion, foot abnormalities, and hip...
Arthrogryposis multiplex congenital (AMC) is a congenital disorder diagnosed with extremity contractures, restricted joint range of motion, foot abnormalities, and hip dislocation. The current literature emphasizes medical and surgical management, but very few studies provide insight into physiotherapy management for AMC. We reported the case of a 16-month-old male diagnosed with AMC, operated on both hips for teratologic dislocation. Physiotherapy examination was conducted, and treatment was planned based on the principles of Sensory Integration Therapy (SIT) and neurodevelopmental technique (NDT) with orthosis to assist in functional recovery. He achieved motor milestones within one year of regular physiotherapy treatment. As per our literature search, this is the first study where an attempt has been made to utilize sensory integration along with NDT for the treatment of AMC, although the clinical presentation of the patient shows more musculoskeletal abnormalities.
PubMed: 38469000
DOI: 10.7759/cureus.53965 -
JSES International Mar 2024Cardiac amyloidosis is a fatal disease of severe heart failure caused by the accumulation of amyloid in the myocardium. This disease is often advanced by the time...
BACKGROUND
Cardiac amyloidosis is a fatal disease of severe heart failure caused by the accumulation of amyloid in the myocardium. This disease is often advanced by the time cardiac symptoms appear; therefore, early detection and treatment are critical for a good prognosis. Recently, it has been suggested that cardiac amyloidosis is implicated in several orthopedic diseases, including carpal tunnel syndrome (CTS), which is often reported to precede cardiac dysfunction. Shoulder disease has also been suggested to be associated with cardiac amyloidosis; however, there have been no reports investigating the rate of amyloid deposition in shoulder specimens and the simultaneous prevalence of cardiac amyloidosis. Herein, we investigated the prevalence of intraoperative specimen amyloid deposition and cardiac amyloidosis in shoulder disease and CTS to determine the usefulness of shoulder specimen screening as a predictor of cardiac amyloidosis development.
METHODS
A total of 41 patients undergoing arthroscopic shoulder surgery and 33 patients undergoing CTS surgery were enrolled in this study. The shoulder group included rotator cuff tears, contracture of the shoulder, synovitis, and calcific tendonitis. In the shoulder group, a small sample of synovium and the long head of the biceps brachii tendon were harvested, while the transverse carpal ligament was harvested from the CTS group. The intraoperative specimens were pathologically examined for amyloid deposition, and patients with amyloid deposition were examined for the presence of cardiac amyloidosis by cardiac evaluation.
RESULTS
In the shoulder group, three cases (7.3%) of transthyretin amyloid deposition were found, all of which involved rotator cuff tears. None of these three cases with amyloid deposition were associated with cardiac amyloidosis. When examining the specimens, the amyloid deposition rate in the long head of the biceps brachii tendon was higher than that in the synovium. In the CTS group, 12 cases (36.4%) of transthyretin amyloid deposition were observed. Of these cases, seven underwent cardiac evaluation and two were identified with cardiac amyloidosis.
CONCLUSION
While the prevalence of amyloid deposition and cardiac amyloidosis in the CTS group was consistent with previous reports, the shoulder group showed a lower deposition rate and no concomitant cardiac amyloidosis. Therefore, it remains debatable whether investigating amyloid deposition in samples obtained from shoulder surgery is beneficial for the early detection of cardiac amyloidosis.
PubMed: 38464439
DOI: 10.1016/j.jseint.2023.11.009 -
BMC Oral Health Mar 2024The relationship between joint effusion and temporomandibular disorders (TMD) remains unclear. The purpose of this study was to investigate the correlation among joint...
BACKGROUND
The relationship between joint effusion and temporomandibular disorders (TMD) remains unclear. The purpose of this study was to investigate the correlation among joint effusion, clinical features and MRI imaging features of TMD.
METHODS
A total of 1532 temporomandibular joints (TMJs) from 766 patients (605 females and 161 males) with the mean age of 31.68 ± 13.71 years from January 2022 to June 2023 were included in the study. Clinical and MRI features were collected and analyzed. Chi-Square test, Spearman correlation coefficient and binary logistic regression analysis were performed.
RESULTS
Patients with joint effusion were significantly older and had smaller value of MIO (p < 0.001). There were significant differences in the distribution of joint sounds (with or without), joint pain (with or without), disc morphology (biconcave, contracture, irregular and lengthened) and disc position between joint effusion group (JE) and non-joint effusion group (NA) (P < 0.05).The odds of having joint effusion were 1.726 higher in patients with joint sounds when compared to those without joint sounds. The odds of having joint effusion were 8.463 higher in patients with joint pain when compared to those without joint pain. The odds of having joint effusion were 2.277 higher in patients with contracture when compared to those with biconcave. The odds of having joint effusion were 1.740 higher in patients with anterior disc displacement with reduction (ADDWR) when compared to those with normal disc position. The prediction accuracy of this model is 74.9%, and the area under curve (AUC) is 79.5%, indicating that it can be used for the prediction and the judgment effect is average.
CONCLUSIONS
The results demonstrated that joint sounds, joint pain, contracture, and ADDWR are high risk factors for joint effusion, especially joint pain.
TRIAL REGISTRATION
This study was retrospectively registered on 28/03/2022 and endorsed by the Ethics Committee of Affiliated Stomatology Hospital of Guangzhou Medical University (LCYJ2022014).
Topics: Male; Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Retrospective Studies; Temporomandibular Joint Disc; Synovial Fluid; Temporomandibular Joint; Temporomandibular Joint Disorders; Arthralgia; Joint Dislocations; Magnetic Resonance Imaging; Contracture
PubMed: 38461246
DOI: 10.1186/s12903-024-04065-4