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1.
J Cardiothorac Surg ; 19(1): 110, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38443931

RESUMO

BACKGROUND: To observe the occurrence of related complications after self-expandable metallic (SEM) airway stents implantation with different diameters at different time points, and to provide theoretical basis for the optimal chioce of existing airway stents in clinical practice. METHODS: Healthy New Zealand white rabbits were used to establish benign tracheal stenosis models after chest CT examination. Forty-fivemodel rabbits with more than 50% of airway stenosis were divided into two groups. Small-diameter SEM stents (The ratio of stent diameter to airway diameter is nearly 1.0) were implanted in Group A in 21 rabbits, and large-diameter tracheal stents (The ratio of stent diameter to airway diameter is more than 1.2) were implanted in Group B in 24 rabbits. Stent-related complications were observed after stent implantation in 2nd,4th,8th, and 12th week by bronchoscopygross anatomy, pathological and the expressions of IL-1RA, IL-8 and MMP9 in involved tracheal. RESULTS: The incidence rate of tracheomalacia of stent was significantly higher in group B (24/24 100%) than that in group A (1 /21,4.8%) (P < 0.05). The incidence rate of scar contracture at both ends of stent was significantly higher than in group B (11 / 24,45.8%) that in group A (2 /21, 9.5%) (P < 0.05). The pathological results of both A and B showed that the columnar epithelium of bronchial mucosa began to damage and detach, inflammatory cells infiltrated after 2nd and 4th week of stenting, The epithelium was repaired, the lamina propria glands almost disappeared, collagen fiber proliferation was obvious, and scars were formed after 8th and 12th week of stenting. ELISA results revealed that the expressions of IL-1RA, IL-8, and MMP9 were increased in the stent group than in model rabbit with benign tracheal stenosis. IL-1RA and MMP9 increased at different periods in group B, but the expression of IL-1RA and MMP9 showed a tread of increasing in the early stage and then decreasing in group A. CONCLUSION: Metal stents can cause different degrees of stent-related complications in rabbits with benign tracheal stenosis. The incidence of stent-induced tracheomalacia and scar contracture were higher in Group B than that in Group A. IL-1RA, IL-8 and MMP9 may be involved in the development of complications after stentimplantation and peak value of group B movered backward. ing.


Assuntos
Contratura , Estenose Traqueal , Traqueomalácia , Coelhos , Animais , Proteína Antagonista do Receptor de Interleucina 1 , Metaloproteinase 9 da Matriz , Estenose Traqueal/etiologia , Estenose Traqueal/cirurgia , Cicatriz , Interleucina-8 , Stents/efeitos adversos
2.
Med Sci Monit ; 30: e942945, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38442083

RESUMO

BACKGROUND The aim of this study was to assess clinical outcomes of arthroscopic surgery for gluteal muscle contracture (GMC) with at least 2 years of follow-up in a large sample. MATERIAL AND METHODS A total of 665 patients who underwent arthroscopic release procedure at our institution between March 2014 and December 2018 and met the inclusion criteria were included in this study. All the patients were operated on by the same surgeon and the surgeon released the contracture band from anterior to posterior starting from the anterior edge of the ITB, the contracture band of the gluteus maximus, and vastus medialis tensor. After exclusion, 544 patients (218 males and 326 females) were finally included. Clinical outcomes at 2 years of postoperative follow-up were evaluated by a combination of several methods, including a new criterion we proposed for postoperative assessment, which included the cross-leg test, difficulty in squatting with legs together, and abnormal gait, the visual analogue scale (VAS), the modified Harris hip score (mHHS), and the satisfaction of patients. RESULTS The average follow-up time was 48.2±14.9 months. Based on the new criteria, 513 (94.3%) patients were evaluated as good, 25 (4.6%) as fair, and 6 (1.1%) as poor. The mHHS increased from 72.1±6.0 (range, 56.0-81.3) to 97.3±2.2 (range, 92.3-100.0) (P<0.001). The VAS decreased from 3.3±1.1 (range, 0-5) to 0.062±0.13 (range, 0-1) (P<0.001). For subjective satisfaction, 526 (96.7%) patients were satisfied, 14 (2.6%) patients were neutral, and 4 (0.7%) patients were dissatisfied. CONCLUSIONS In a large sample, favorable and durable clinical outcomes were observed after the arthroscopic procedure. Clinical symptoms and mHHS showed significant improvement with a minimum 2-year follow-up.


Assuntos
Artroscopia , Contratura , Feminino , Masculino , Humanos , Extremidade Inferior , Contratura/cirurgia , Perna (Membro) , Músculo Quadríceps
3.
Mol Genet Genomic Med ; 12(3): e2415, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38488438

RESUMO

INTRODUCTION: Wiedemann-Steiner syndrome (WSS) is a rare autosomal-dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches. METHODS: A 3-year-old female with developmental delay, distinctive facial features, and anal fistula underwent whole exome sequencing (WES). RNA analysis was performed to assess splicing effects caused by a novel variant. RESULTS: WES identified novel heterozygous KMT2A c.5664+6T>C variant initially classified as a variant of uncertain significance. RNA analysis provided evidence of aberrant splicing (exon 20 skipping), allowing reclassification to likely pathogenic. The patient exhibited typical WSS features along with a potential novel finding of anal fistula. CONCLUSION: This report describes a novel non-canonical splice site variant in KMT2A associated with WSS. RNA analysis was critical for variant reclassification. Detailed phenotypic evaluation revealed common and expanded WSS manifestations. This case highlights the importance of combining clinical assessment, DNA testing, and RNA functional assays for the diagnosis of rare genetic disorders.


Assuntos
Anormalidades Múltiplas , Contratura , Facies , Transtornos do Crescimento , Deficiência Intelectual , Microcefalia , Fístula Retal , Criança , Feminino , Humanos , Pré-Escolar , Síndrome , Anormalidades Múltiplas/genética , RNA
4.
BMC Pediatr ; 24(1): 182, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38491417

RESUMO

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.


Assuntos
Contratura , Atrofia Muscular , Feminino , Humanos , Gravidez , China , Contratura/genética , Linhagem
5.
Child Care Health Dev ; 50(2): e13252, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38520205

RESUMO

BACKGROUND: It is thought that physical health conditions start at a young age in people with profound intellectual and multiple disabilities (PIMD). Knowledge regarding the prevalence, associations and development of these physical health conditions could be used for purposes of prevention as well as appropriate care and support but is currently lacking. OBJECTIVE: The aim of this study is to gain insight into the prevalence of physical health conditions and associations between these conditions in young children with PIMD. METHODS: The study used cross-sectional data related to the physical health conditions of children with PIMD (n = 51, aged between 12 and 61 months). Data were collected in Belgium and in the Netherlands through a checklist filled in by primary caregiver(s). Physical health conditions were classified into categories by the 10th revision of the International Classification of Diseases and Related Health Problems (ICD-10) system. The number of physical health conditions and associations between them were analysed. The analysis focused on prevalence rates and associations represented by odds ratios (p < 0.05). A graphical model was estimated to represent dependencies and conditional dependencies between physical health conditions. RESULTS: We found a mean of 3.8 (range 1-8, SD 1.9) physical health conditions per child. Most of the physical health conditions were found in the ICD-10 chapter 'Nervous System', with hypotonia as the most frequent at 70.6%. Five significant large associations were found between spasticity-contractures (OR 9.54); circulatory system-contractures (OR 7.50); scoliosis-contractures (OR 10.25); hearing impairments-skin problems (OR 58.20) and obstipation-hypotonia (OR 19.98). CONCLUSION: This study shows that at a young age, multiple physical health conditions are present in children with PIMD. In addition, we found five associations between physical health conditions.


Assuntos
Contratura , Pessoas com Deficiência , Deficiência Intelectual , Criança , Humanos , Pré-Escolar , Lactente , Prevalência , Estudos Transversais , Hipotonia Muscular , Deficiência Intelectual/epidemiologia
6.
World J Urol ; 42(1): 172, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38506927

RESUMO

PURPOSE: To compare the outcomes of patients undergoing robotic YV plasty for bladder neck contracture (BNC) vs. vesico-urethral anastomotic stricture (VUAS). METHODS: A retrospective study included male patients who underwent robotic YV plasty for BNC after endoscopic treatment of BPH or VUAS between August 2019 and March 2023 at a single academic center. The primary assessed was the patency rate at 1 month post-YV plasty and during the last follow-up visit. RESULTS: A total of 21 patients were analyzed, comprising 6 in the VUAS group and 15 in the BNC group. Patients with VUAS had significantly longer operative times (277.5 vs. 146.7 min; p = 0.008) and hospital stay (3.2 vs. 1.7 days; p = 0.03). Postoperative complications were more common in the VUAS group (66.7% vs. 26.7%; p = 0.14). All patients resumed spontaneous voiding postoperatively. Five patients (23.8%) who developed de novo stress urinary incontinence had already an AUS (n = 1) or required concomitant AUS implantation (n = 3), all of whom were in the VUAS group (83.3% vs. 0%; p < 0.0001). The proportion of patients improved was similar in both groups (PGII = 1 or 2: 83.3% vs. 80%; p = 0.31). Stricture recurrence occurred in 9.5% of patients in the whole cohort, with no significant difference between the groups (p = 0.50). Long-term reoperation was required in three VUAS patients, showing a statistically significant difference between the groups (p = 0.05). CONCLUSION: Robotic YV plasty is feasible for both VUAS and BNC. While functional outcomes and stricture-free survival may be similar for both conditions, the perioperative outcomes were less favorable for VUAS patients.


Assuntos
Contratura , Procedimentos Cirúrgicos Robóticos , Estreitamento Uretral , Obstrução do Colo da Bexiga Urinária , Humanos , Masculino , Bexiga Urinária/cirurgia , Constrição Patológica/etiologia , Constrição Patológica/cirurgia , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Estudos Retrospectivos , Obstrução do Colo da Bexiga Urinária/cirurgia , Obstrução do Colo da Bexiga Urinária/complicações , Contratura/cirurgia , Estreitamento Uretral/etiologia , Estreitamento Uretral/cirurgia , Prostatectomia/efeitos adversos
7.
Mol Genet Genomic Med ; 12(3): e2401, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38444278

RESUMO

BACKGROUND: The MYH3-associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like pterygia and vertebrae fusion. CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B) is the only known autosomal recessiveMYH3-associated myosinopathy so far, with no more than two dozen cases being reported. MATERIALS AND METHODS: A boy with CPSKF1B was recruited and subjected to a comprehensive clinical and imaging evaluation. Genetic detection with whole-exome sequencing (WES) was performed on the patient and extended family members to identify the causative variation. A series of in silico and in vitro investigations were carried out to verify the pathogenicity of the two variants of the identified compound heterozygous variation. RESULTS: The patient exhibited moderate CPSKF1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected a compound heterozygous MYH3 variation consisting of two variants, namely NM_002470.4: c.3377A>G; p. (E1126G) and NM_002470.4: c.5161-2A>C. It was indicated that the NM_002470.4: c.3377A>G; p. (E1126G) variant mainly impaired the local hydrogen bond formation and impacted the TGF-B pathway, while the NM_002470.4: c.5161-2A>C variant could affect the normal splicing of pre-mRNA, resulting in the appearance of multiple abnormal transcripts. CONCLUSIONS: The findings of this study expanded the mutation spectrum of CPSKF1B, provided an important basis for the counseling of the affected family, and also laid a foundation for the functional study of MYH3 mutations.


Assuntos
Artrogripose , Túnica Conjuntiva , Contratura , Pterígio , Humanos , Masculino , Artrogripose/genética , Túnica Conjuntiva/anormalidades , Contratura/genética , Família
8.
BMC Oral Health ; 24(1): 314, 2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38461246

RESUMO

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).


Assuntos
Contratura , Luxações Articulares , Transtornos da Articulação Temporomandibular , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Disco da Articulação Temporomandibular/diagnóstico por imagem , Líquido Sinovial , Articulação Temporomandibular , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Artralgia/etiologia , Imageamento por Ressonância Magnética
9.
Neuromuscul Disord ; 36: 38-41, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38350265

RESUMO

Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.


Assuntos
Artrite Reumatoide , Contratura , Miosite , Humanos , Miosite/complicações , Miosite/diagnóstico , Artrite Reumatoide/complicações , Artrite Reumatoide/tratamento farmacológico , Metotrexato/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico
10.
Genes (Basel) ; 15(2)2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38397201

RESUMO

The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil's Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C>T); reverse phenotyping concluded that all three patients presented features of Wiedemann-Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velopharyngeal insufficiency (n = 2). Overlapping features between 22q11.2 deletion syndrome and Wiedemann-Steiner syndrome comprised neuropsychiatric disorders and dysmorphic characteristics involving the eyes and nose region; velopharyngeal insufficiency was seen in two patients and is an unreported finding in WDSTS. Therefore, we suggest that both conditions should be included in each other's differential diagnoses.


Assuntos
Anormalidades Múltiplas , Contratura , Síndrome de DiGeorge , Facies , Transtornos do Crescimento , Deficiência Intelectual , Microcefalia , Insuficiência Velofaríngea , Humanos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Síndrome de DiGeorge/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética
11.
J Hand Surg Asian Pac Vol ; 29(1): 69-74, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38299242

RESUMO

Surgical reconstruction can restore length and function, but cannot adequately resolve the problem of disfigurement. Prosthetic fitting can play a complementary role in enhancing the aesthetic outcomes post reconstruction. However, complex reconstruction involving flaps coupled with the surgical imperative for limb length preservation can lead to outcomes where the reconstructed stumps are challenging to fit with prosthesis. This article describes how prosthetic fitting was tackled in a case of a triple-digit amputation after reconstruction that presented with finger stumps that were bulky, long and stiff in extension contracture, compounded by the presence of substantive scar tissues. We discuss major prosthesis modifications that were unconventional but necessary to enable fitting, the techniques involved, as well as the aesthetic and functional considerations behind the modifications. The results showed that enhanced aesthetic appearance, together with a marginal improvement in hand function, was achieved post-prosthetically, meeting the patient's and the clinical team's fitting objective. Level of Evidence: Level V (Therapeutic).


Assuntos
Contratura , Retalhos Cirúrgicos , Humanos , Próteses e Implantes , Cotos de Amputação , Dedos/cirurgia
12.
J Hand Surg Asian Pac Vol ; 29(1): 24-28, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38299250

RESUMO

Background: This study aimed to evaluate the efficacy of ulnar superficial slip resection (USSR) for improving hand function after unfavourable results after triggering finger release using a minimally invasive approach. Methods: We evaluated 17 consecutive fingers of 16 patients who complained of unfavourable outcomes after primary trigger finger release. The chief complaints of the two index and 15 middle fingers were proximal interphalangeal (PIP) joint pain during movement, flexion contracture of the PIP joint and snapping at the A2 pulley in eight, seven and two fingers, respectively. The joint arc of the active range of motion and extension loss of the PIP joint, grip strength, visual analogue score (VAS) of PIP joint pain and Quick Disability of the Arm, Shoulder and Hand were evaluated before and after surgery. Results: Thirteen fingers could release joint contracture and snapping by the USSR procedure. However, four fingers of three patients required total flexor digitorum superficialis resection to resolve the unsatisfactory conditions of the intraoperative decision. The joint arc of active range of motion and extension loss of the PIP joint, grip strength and VAS score significantly improved (mean of 16.1 months follow-up). Finally, 15 patients (88.2%) were satisfied with the symptom relief outcomes. Conclusions: USSR is an effective and satisfactory procedure for unfavourable conditions after trigger finger release, including PIP joint pain, joint contracture and snapping at the A2 pulley. Level of Evidence: Level IV (Therapeutic).


Assuntos
Contratura , Dedo em Gatilho , Humanos , Dedo em Gatilho/diagnóstico , Articulações dos Dedos/cirurgia , Contratura/cirurgia , Dedos , Artralgia
13.
J Plast Surg Hand Surg ; 59: 18-23, 2024 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-38311891

RESUMO

AIM: To investigate surgical treatment, postoperative rehabilitation and prevention of heterotopic ossification (HO) in patients with post-traumatic elbow stiffness. METHODS: We performed a retrospective review of patients with post-traumatic elbow stiffness combined with HO between 2007 and 2021. This study was performed on a total of 15 patients (18 elbows) admitted to our hospital, consisting of 12 males and 3 females, with post-traumatic stiffness of the elbow combined with HO, where elbow function could not be recovered by rehabilitation and orthosis treatment. Fifteen patients were treated by surgical excision of heterotopic bones and release of elbow contracture combined with postoperative rehabilitation and orthosis-wearing. Comprehensive treatments, including radiation, oral ibuprofen medication, and manipulation techniques to improve range of motion, were used to prevent HO recurrence. The flexion-extension arc and functional score of the elbow were measured after treatment and compared with the preoperative measurements. Roentgenography was used to observe HO recurrence. RESULTS: After surgical treatment and postoperative rehabilitation, the patients' range of motion improved, and the functional score improved considerably. The postoperative flexion-extension arc and The Hospital for Special Surgery (HSS) functional score were statistically significantly higher than the preoperative values (p < 0.01). Roentgenographic examination showed no HO recurrence during the follow-up period. CONCLUSION: Surgical excision of heterotopic bones and elbow contracture release combined with postoperative rehabilitation and preventative HO measures can be an effective treatment for cases of post-traumatic elbow stiffness combined with HO, for which conservative treatment is ineffective.


Assuntos
Contratura , Lesões no Cotovelo , Articulação do Cotovelo , Ossificação Heterotópica , Masculino , Feminino , Humanos , Cotovelo , Estudos Retrospectivos , Resultado do Tratamento , Articulação do Cotovelo/cirurgia , Contratura/etiologia , Contratura/cirurgia , Ossificação Heterotópica/etiologia , Ossificação Heterotópica/cirurgia , Amplitude de Movimento Articular
14.
J Biomech ; 165: 112015, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38394953

RESUMO

Cerebral palsy (CP) is a neurologic injury that impacts control of movement. Individuals with CP also often develop secondary impairments like weakness and contracture. Both altered motor control and secondary impairments influence how an individual walks after neurologic injury. However, understanding the complex interactions between and relative effects of these impairments makes analyzing and improving walking capacity in CP challenging. We used a sagittal-plane musculoskeletal model and neuromuscular control framework to simulate crouch and nondisabled gait. We perturbed each simulation by varying the number of synergies controlling each leg (altered control), and imposed weakness and contracture. A Bayesian Additive Regression Trees (BART) model was also used to parse the relative effects of each impairment on the muscle activations required for each gait pattern. By using these simulations to evaluate gait-pattern specific effects of neuromuscular impairments, we identified some advantages of crouch gait. For example, crouch tolerated 13 % and 22 % more plantarflexor weakness than nondisabled gait without and with altered control, respectively. Furthermore, BART demonstrated that plantarflexor weakness had twice the effect on total muscle activity required during nondisabled gait than crouch gait. However, crouch gait was also disadvantageous in the presence of vasti weakness: crouch gait increased the effects of vasti weakness on gait without and with altered control. These simulations highlight gait-pattern specific effects and interactions between neuromuscular impairments. Utilizing computational techniques to understand these effects can elicit advantages of gait deviations, providing insight into why individuals may select their gait pattern and possible interventions to improve energetics.


Assuntos
Paralisia Cerebral , Contratura , Transtornos Neurológicos da Marcha , Humanos , Teorema de Bayes , Marcha/fisiologia , Caminhada/fisiologia , Contratura/complicações , Fenômenos Biomecânicos
15.
J Pediatr Orthop ; 44(4): 267-272, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38299252

RESUMO

BACKGROUND: Little is known about the prevalence of intraspinal pathology in children who toe walk, but magnetic resonance imaging (MRI) may be part of the diagnostic workup. The purpose of this study was to examine the role of MRI for children who toe walk with a focus on the rate of positive findings and associated neurosurgical interventions performed for children with said MRI findings. METHODS: A single-center tertiary hospital database was queried to identify a cohort of 118 subjects with a diagnosis of toe walking who underwent spinal MRI during a 5-year period. Patient and MRI characteristics were summarized and compared between subjects with a major abnormality, minor abnormality, or no abnormality on MRI using multivariable logistic regression. Major MRI abnormalities included those with a clear spinal etiology, such as fatty filum, tethered cord, syrinx, and Chiari malformation, while minor abnormalities had unclear associations with toe walking. RESULTS: The most common primary indications for MRI were failure to improve with conservative treatment, severe contracture, and abnormal reflexes. The prevalence of major MRI abnormalities was 25% (30/118), minor MRI abnormalities was 19% (22/118), and normal MRI was 56% (66/118). Patients with delayed onset of toe walking were significantly more likely to have a major abnormality on MRI ( P =0.009). The presence of abnormal reflexes, severe contracture, back pain, bladder incontinence, and failure to improve with conservative treatment were not significantly associated with an increased likelihood of major abnormality on MRI. Twenty-nine (25%) subjects underwent tendon lengthening, and 5 (4%) underwent neurosurgical intervention, the most frequent of which was detethering and sectioning of fatty filum. CONCLUSIONS: Spinal MRI in patients who toe walk has a high rate of major positive findings, some of which require neurosurgical intervention. The most significant predictor of intraspinal pathology was the late onset of toe walking after the child had initiated walking. MRI of the spine should be considered by pediatric orthopedic surgeons in patients with toe walking who present late with an abnormal clinical course. LEVEL OF EVIDENCE: Level III Retrospective Comparative Study.


Assuntos
Contratura , Transtornos dos Movimentos , Humanos , Criança , Estudos Retrospectivos , Reflexo Anormal , Imageamento por Ressonância Magnética/métodos , Caminhada , Dedos do Pé/diagnóstico por imagem
16.
BMC Musculoskelet Disord ; 25(1): 146, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38365661

RESUMO

BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once. CASE PRESENTATION: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers. CONCLUSIONS: This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity.


Assuntos
Contratura , Miopatias Distais , Atrofia Muscular , Distrofia Muscular do Cíngulo dos Membros , Humanos , Adolescente , Adulto Jovem , Adulto , Proteínas de Membrana/genética , Proteínas Musculares/genética , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/diagnóstico por imagem , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Contratura/etiologia , Contratura/genética
17.
Medicine (Baltimore) ; 103(5): e36904, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38306559

RESUMO

Treatment of osteoporotic distal femur fractures is often complicated by a high rate of nonunion and varus collapse. For such fractures, lateral plating with lateral incision and double plating with anterior paramedial incision have shown promising results in the recent literature. The hypothesis of this study was that bilateral plating of comminuted distal femur fractures in osteoporotic patients would result in higher union rates and lower revision rates compared to an isolated lateral locking plate. The study included 56 patients (23 males, 33 females) with supracondylar femur fracture. According to the OA/OTA classification, 9 were type A3, 8 were A2, 13 were C1, 16 were C2, and 10 were C3. The mean follow-up period was 12 months, with 29 patients treated using lateral mini-incision, lateral locking plate, and 27 patients treated with anterior paramedial incision, dual plating. The clinical and radiological results were evaluated. The mean duration of radiological union in the studied population was 15 ±â€…2.1 months (range, 11-21 months) in the single plate group (Group A), and 13.5 ±â€…2.6 months (range, 9-19 months) in the double plate group (Group B). Mean ROM was 112.3° and flexion contracture 4° in Group A, and ROM 108.3° and flexion contracture 6.7° in Group B. (P = .15). The average Western Ontario and McMaster Universities Arthritis Index (WOMAC) score was 85.6 points in Group A and 83.5 points in Group B (P = .2278). The postoperative anteversion measurement in the operated extremity ranged from -15 to 19 in Group A, and from 5 to 18 in Group B. When the anteversion degrees were compared between the injured and uninjured extremities in the postoperative period, a significant difference was observed within Group A (P = .0018), but no significant difference was observed in Group B (P = .2492). Dual plate fixation using the anterior paramedial approach is an effective operative method for osteoporotic distal femur fractures. This has many advantages such as precise exposure, easy manipulation, anatomic reduction, and stable fixation. However, for surgical indications and medial bone defects > 1 cm, grafting should be performed.


Assuntos
Contratura , Fraturas Femorais Distais , Fraturas do Fêmur , Ferida Cirúrgica , Masculino , Feminino , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Fraturas do Fêmur/diagnóstico por imagem , Fraturas do Fêmur/cirurgia , Fraturas do Fêmur/etiologia , Fixação Interna de Fraturas/métodos , Perna (Membro) , Placas Ósseas , Contratura/etiologia
18.
Genes (Basel) ; 15(1)2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38275606

RESUMO

A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.


Assuntos
Contratura , Escoliose , Humanos , Contratura/genética , Mutação , Fenótipo , Polônia , Escoliose/genética , Escoliose/congênito
19.
World J Urol ; 42(1): 14, 2024 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-38189837

RESUMO

PURPOSE: Bladder neck contracture (BNC) is a rare but intolerant complication after transurethral surgery of prostate. The present study aims to investigate the incidence and risk factors of BNC in patients diagnosed benign prostate hyperplasia (BPH) and following transurethral resection or enucleation of the prostate (TURP/TUEP). METHODS: This retrospective study included 1008 BPH individuals who underwent transurethral surgery of the prostate between January 2017 and January 2022. Patients' demographics, medical comorbidities, urologic characteristics, perioperative parameters, and the presence of BNC were documented. Univariate and multivariate analyses were conducted to identify the risk factors. RESULTS: A total of 2% (20/1008) BPH patients developed BNC postoperatively and the median occurring time was 5.8 months. Particularly, the incidences of BNC were 4.7% and 1.3% in patients underwent Bipolar-TURP and TUEP respectively. Preoperative urinary tract infection (UTI), elevated PSA, smaller prostate volume (PV), bladder diverticulum (BD), and B-TURP were significantly associated with BNC in the univariate analysis. Further multivariate logistic regression demonstrated preoperative UTI (OR 4.04, 95% CI 2.25 to 17.42, p < 0.001), BD (OR 7.40, 95% CI 1.83 to 31.66, p < 0.001), and B-TURP (OR 3.97, 95% CI 1.55 to 10.18, p = 0.004) as independent risk factors. All BNC patients were treated with transurethral incision of the bladder neck (TUIBN) combined with local multisite injection of betamethasone. During a median follow-up of 35.8 months, 35% (7/20) of BNC patients recurred at a median time of 1.8 months. CONCLUSION: BNC was a low-frequency complication following transurethral surgery of prostate. Preoperative UTI, BD, and B-TURP were likely independent risk factors of BNC. TUIBN combined with local multisite injection of betamethasone may be promising choice for BNC treatment.


Assuntos
Contratura , Hiperplasia Prostática , Masculino , Humanos , Bexiga Urinária , Próstata , Estudos Retrospectivos , Hiperplasia Prostática/cirurgia , Contratura/epidemiologia , Contratura/etiologia , Betametasona
20.
J Orthop Surg Res ; 19(1): 39, 2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38183149

RESUMO

PURPOSE: This study aimed to perform a systematic review and meta-analysis to compare the clinical outcomes of open surgery and arthroscopic release in gluteal muscle contracture (GMC). METHODS: Two independent reviewers YM and WL conducted a systematic search of PubMed, Embase, Cochrane Library, and Web of Science to identify clinical trials that adhered to the PRISMA guidelines (Appendix A), spanning from inception to July 2023. Search items included (("gluteal" OR "gluteus") AND ("contracture" OR "fibrosis")). Research comparing open surgery or arthroscopic release was included. Clinical outcomes were compared using the risk ratio for dichotomous variables and the standardized mean difference for continuous variables. A P value < 0.05 was deemed statistically significant. RESULTS: Four studies with 453 patients met the selection criteria and were included in this review. Compared with open surgery, in the case of similar postoperative functional satisfaction (1.21, 95% CI = 0.46-3.17, P = 0.70), the arthroscopic release achieved advantages in postoperative complications (3.5, 95% CI = 1.75-7.03, P = 0.0004), cosmetic satisfaction (0.07, 95% CI = 0.01-0.65, P = 0.02), length size (5.65, 95% CI = 4.11-7.19, P < 0.001), and hospitalization duration (1.57, 95% CI = 0.89 to 2.26, P < 0.001). CONCLUSION: This research shows that both open surgery and arthroscopic release improve functional satisfaction. The arthroscopic release could result in fewer complications, better cosmetic satisfaction, shorter length size, and shorter hospitalization duration. Registration and protocol There is no registration and protocol for this meta-analysis.


Assuntos
Contratura , Extremidade Inferior , Humanos , Contratura/cirurgia , Endoscopia , Hospitalização , Músculos
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