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1.
BMC Musculoskelet Disord ; 25(1): 139, 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355529

RESUMO

BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the first reported case of NPS that was newly diagnosed at the onset of rheumatoid arthritis (RA). CASE PRESENTATION: A 74-year-old man was admitted to our hospital due to an 8-month history of arthralgia in bilateral wrists, elbows and fingers. He had a past history of glaucoma and left patella dislocation that had been operatively recentered at the age of 15 years. Laboratory data showed elevated levels of serum C-reactive protein and rheumatoid factor and an elevated titer of anti-SS-A antibodies, while estimated glomerular filtration rate (eGFR), titers of other antibodies and the results of a urinary test were normal. An X-ray showed deformity of bilateral radial heads and the right elbow, and magnetic resonance imaging (MRI) of his hands showed synovitis and erosion in the multiple swollen joints of the wrists and fingers. In addition to these typical features of RA, he had bilateral thumb nail dysplasia with mild hypoplasia of bilateral patellae and iliac horns as shown by the X-ray. He was diagnosed as having autosomal dominant disorder NPS co-existing with RA and he was treated with methotrexate in combination with an oral Janus kinase (JAK) inhibitor, leading to induction of remission. CONCLUSIONS: We have presented a rare case of NPS that was newly diagnosed at the onset of RA. Clinical and radiographic findings of NPS are highlighted in this case report for diagnosing NPS on the basis of typical manifestations.


Assuntos
Artrite Reumatoide , Síndrome da Unha-Patela , Luxação Patelar , Idoso , Humanos , Masculino , Artrite Reumatoide/complicações , Artrite Reumatoide/diagnóstico , Imageamento por Ressonância Magnética , Síndrome da Unha-Patela/diagnóstico , Síndrome da Unha-Patela/diagnóstico por imagem , Luxação Patelar/complicações , Radiografia
2.
BMC Musculoskelet Disord ; 25(1): 174, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38409002

RESUMO

PURPOSE: To compare the clinical efficacy of arthroscopic TightRope loop titanium button and clavicular hook plate in the treatment of acromioclavicular joint (ACJ) dislocation of Rockwood III/IV. METHODS: A retrospective analysis of patients with ACJ dislocation in our hospital from January 2018 to December 2020 was conducted. The patients were assigned to be treated with arthroscopic TightRope loop titanium button (TR group) or clavicular hook plate (HP group). The preoperative, intraoperative and postoperative data and imaging findings of the two groups were compared. RESULTS: A total of 58 eligible patients were enrolled in this study. Compared with HP group, TR group had shorter incision length and less blood loss during operation. Postoperative follow-up ranged from 12 to 24 months (mean 15.4 months). At 6 months and 12months postoperatively, compared with HP group, TR group had lower VAS and higher CMS, and the difference was statistically significant. At 12 months postoperatively, compared with HP group, TR group had lower ACJ gap and coracoclavicular joint(CCJ) distance, and the difference was statistically significant.In HP group, there were 3 cases of subacromial impact, 1 case of redislocation, 2 cases of traumatic arthritis and 2 cases of wound infection. There was 1 case of redislocation in TR group. CONCLUSIONS: Compared with clavicular hook plate, arthroscopic TightRope loop titanium button is minimally invasive, safe and effective in the treatment of ACJ dislocation, and has a good trend in clinical application.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Humanos , Estudos Retrospectivos , Luxações Articulares/cirurgia , Titânio , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/cirurgia , Luxação do Ombro/cirurgia , Placas Ósseas , Resultado do Tratamento
3.
J Emerg Med ; 67(3): e305-e309, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39034161

RESUMO

BACKGROUND: Shoulder dislocations and elbow dislocations are common presentations to the emergency department (ED). Simultaneous ipsilateral elbow and shoulder dislocations are rarely reported and typically occur secondary to trauma. CASE REPORT: A 45-year-old female presented to the ED after a fall from standing and complained of upper right extremity pain. Radiographs revealed posterior dislocation of the right elbow and anterior dislocation of the right shoulder without fractures. Successful reduction of the elbow and shoulder were both achieved, and the patient was placed in a long-arm splint and sling. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case describes the unique mechanism of injury of a simultaneous ipsilateral shoulder and elbow dislocation without trauma.


Assuntos
Lesões no Cotovelo , Luxações Articulares , Radiografia , Luxação do Ombro , Humanos , Feminino , Pessoa de Meia-Idade , Luxações Articulares/diagnóstico por imagem , Radiografia/métodos , Serviço Hospitalar de Emergência/organização & administração , Acidentes por Quedas
4.
J Orthop Sci ; 2024 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-39147648

RESUMO

BACKGROUND: To evaluate the relationship between the pattern and severity of metatarsophalangeal (MTP) joint dislocation in the lesser toes and severity of joint destruction in rheumatoid forefoot deformities. METHODS: Participants comprised of 13 patients (16 feet) who underwent resection arthroplasty of the metatarsal head of the lesser toes for rheumatoid arthritis of the MTP joints. Correlations between preoperative radiographic findings and histological grades second to fifth metatarsal heads taken intraoperatively were analyzed. RESULTS: In 62 metatarsal heads, complete dislocation of the MTP joint in the lesser toes significantly resulted in severe joint destruction compared to mild or moderate dislocation (P < 0.05). The proportion of severe cartilage damage in MTP joints with complete dislocation was 100 % in the 5th MTP joint, 83.3 % in the 4th MTP joint, and 58.3 % in the 2nd and 3rd MTP joints. Moreover, complete dislocation of the MTP joints in the lateral column showed the most severe joint destruction compared to that in the medial column (P = 0.03). CONCLUSION: Complete dislocation of the MTP joint in the lateral column is related to joint destruction in rheumatoid forefoot deformities.

5.
J Oral Rehabil ; 51(3): 510-516, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37920142

RESUMO

BACKGROUND: Temporomandibular joint arthroscopy (TMJA) is often performed under general anaesthesia (GA) worldwide on an inpatient basis, whereas local anaesthesia (LA) is not equally considered as the standard procedure. OBJECTIVES: To compare the efficacy between LA and GA when performing TMJA. METHODS: This study retrospectively reviewed a total of 182 patients in LA group and 91 patients in GA group who underwent TMJA for the management of disc displacement. Patients were divided into two groups based on type of anaesthesia used for surgery; LA group and GA group. Comparisons were made based on operative time, intubation and extubation time (for GA only), hospital stay duration, total cost and post-operative clinical and radiological outcomes. RESULTS: The demographics and pre-operative clinical assessments were matched in both groups. No post-operative significant difference was found in outcomes when performing TMJA under LA compared to GA in terms of pain reduction (p = .016) and improvement in mouth opening (p = .866). The median operative time and hospital stay duration for LA group were significantly less compared to GA group (p < .001). GA group required an additional intubation and extubation time, whereas LA group patients were waived from it. TMJA for LA group was performed in the minor procedure setup, which reduced the costs for surgery (p < .001). Post-operative disc position was excellent and good with an overall success rate of 95%. CONCLUSION: The use of LA performing TMJA reduces operating time, costs, hospital stay and recovery room time than GA group. Furthermore, TMJA performed under LA shared similar post-operative clinical and radiological outcomes with those performed under GA.


Assuntos
Anestesia Local , Artroscopia , Humanos , Artroscopia/métodos , Estudos Retrospectivos , Anestesia Local/métodos , Dor , Anestesia Geral/métodos , Resultado do Tratamento
6.
Arch Orthop Trauma Surg ; 144(2): 807-814, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37940713

RESUMO

INTRODUCTION: The current literature describes various operative stabilization strategies which achieve good clinical outcomes after acute acromioclavicular joint (ACJ) dislocation. The aim of this study was to compare the mid-term clinical and sonographic treatment outcomes after minimally invasive mini-open and arthroscopic reconstruction. MATERIALS AND METHODS: We conducted a retrospective two-center study of patients with acute ACJ dislocation. Surgical treatment was performed using either a mini-open approach (MIOP) or an arthroscopic technique (AR). The primary outcome parameters of this study were the sonographically measured acromioclavicular (ACD) and coracoclavicular distances (CCD). Secondary outcome parameters included the Constant-Murley score (CS), range of motion (ROM), postoperative pain scale (VAS), return to daily routine, return to sports, complications, as well as operative revisions. RESULTS: After a mean follow-up of 29 months, 30 patients were included in this study with an average age of 41.3 ± 14.8 years (MIOP) and 41.2 ± 15.4 years (AR). The sonographic ACD (MIOP 9.11 mm vs. AR 8.93 mm, p = 0.41) and CCD (MIOP 25.08 mm vs. AR 24.36 mm, p = 0.29) distances showed no statistically significant differences. Furthermore, there was no statistically significant difference when compared to the contralateral side (p = 0.42). With both techniques, patients achieved excellent clinical outcome parameters without statistically significant differences in CS (MIOP 95 vs. AR 97, p = 0.11) and VAS (MIOP 1.76 vs. AR 1.14, p = 0.18). The return to daily activity and return to sport rates did not differ. There were neither complications nor revisions in both groups. CONCLUSION: Both minimally invasive techniques for acute ACJ stabilization achieved excellent clinical and sonographic outcomes without one technique being statistically superior to the other.


Assuntos
Articulação Acromioclavicular , Artroplastia de Substituição , Luxações Articulares , Luxação do Ombro , Humanos , Adulto , Pessoa de Meia-Idade , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/cirurgia , Luxações Articulares/cirurgia , Estudos Retrospectivos , Artroscopia/métodos , Luxação do Ombro/cirurgia , Resultado do Tratamento
7.
Am J Med Genet A ; 191(8): 2100-2112, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37183573

RESUMO

Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho-scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in patients with CHST3 variants. They also shared peculiar facies with broad forehead, broad nasal tip, long philtrum and short neck. Rare unusual associated findings included microdontia, teeth spacing, delayed eruption, prominent angulation of the lumbar-sacral junction and atrial septal defect. Mutational analysis revealed 10 different homozygous CHST3 (NM_004273.5) variants including 7 missense, two frameshift and one nonsense variant. Of them, the c.384_391dup (p.Pro131Argfs*88) was recurrent in two families. Eight of these variants were not described before. Our study presents the largest series of patients with CHST3-related skeletal dysplasia from the same ethnic group. Furthermore, it reinforces that lethal cardiac involvement is a critical clinical finding of the disorder. Therefore, we believe that our study expands the phenotypic and mutational spectrum, and also highlights the importance of performing echocardiography in patients harboring CHST3 variants.


Assuntos
Nanismo , Osteocondrodisplasias , Humanos , Nanismo/diagnóstico por imagem , Nanismo/genética , Homozigoto , Mutação , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Carboidrato Sulfotransferases
8.
BMC Musculoskelet Disord ; 24(1): 18, 2023 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-36624428

RESUMO

BACKGROUND: Dog Bone™ button fixation is frequently used to treat acromioclavicular joint (ACJ) dislocation. However, various studies have reported complications after fixation. OBJECTIVE: To investigate the effect of the coracoid bone tunnel location on the treatment of ACJ dislocation through single-tunnel coracoclavicular (CC) ligament fixation with the Dog Bone™ button. METHODS: Six cadaveric shoulders were used. Each specimen was subjected to five testing conditions in the following order: (1) normal ACJ (Gn); (2) acromioclavicular and CC ligaments were removed (G0); (3) CC ligament reconstruction was performed using the Dog Bone™ technique, and the coracoid bone tunnel was at the center of the coracoid base (G1); (4) reconstruction was performed at 5 mm distal from the G1 site, along the axis of the coracoid (G2); (5) reconstruction was performed at 10 mm distal from the G1 site, along the axis of the coracoid (G3). The angles of pronation and supination of the clavicle under the same load (30 N) were measured. Next, a finite element (FE) model was created using computed tomography (CT) images of the normal shoulder. Model 1 (M1), model 2 (M2), and model 3 (M3) correspond to G1, G2, and G3, respectively. A force of 70 N was applied as a vertical upward load to the distal clavicle. Subsequently, the von Mises stress, the strain LE along the FiberWire, and the displacement nephogram of the three models were obtained. RESULTS: After single-tunnel CC ligament fixation using the Dog Bone™ technique, the clavicle in the G2 group (20.50 (19.50, 21.25) °, 20.00 (18.75, 21.25) °) had the best rotational stability. The peak von Mises stress, the strain LE along the FiberWire, and the maximum displacement were smaller in M2 than in M1 and M3. CONCLUSIONS: When the coracoid bone tunnel was located 5 mm anterior to the center of the coracoid base (along the axis of the coracoid), the clavicle showed greater rotational stability.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/cirurgia , Cadáver , Clavícula/cirurgia , Análise de Elementos Finitos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/cirurgia , Ligamentos Articulares/cirurgia , Ombro , Luxação do Ombro/cirurgia , Humanos
9.
BMC Musculoskelet Disord ; 24(1): 430, 2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37254081

RESUMO

BACKGROUND: Galeazzi fracture dislocation is a compound injury that encompasses fractures of the distal third of the radius and dislocation of the distal radial ulnar joint (DRUJ). Clinically, this condition is rare and often leads to distal ulnar bifurcation. In previous similar reports, patients were effectively managed through surgery. CASE PRESENTATION: In this case report, we describe an 11-year-old male child who presented with an ulnar bifida following trauma to the hand, and was treated with manipulation and conservative treatment without surgery. A follow-up performed over the years demonstrated that the patient recovered well, and had normal wrist movements without significant pain, and the patient expressed great satisfaction. CONCLUSIONS: Ulnar diaphyseal fracture may occur in children or adolescents due to injuries, and may be accompanied with manipulation and repositioning. Conservative treatment can be applied to avoid the trauma associated with surgery especially in the absence of severe joint mobility impairment with good outcomes.


Assuntos
Luxações Articulares , Fraturas do Rádio , Fraturas da Ulna , Traumatismos do Punho , Masculino , Adolescente , Humanos , Criança , Fixação Interna de Fraturas/efeitos adversos , Ulna/cirurgia , Fraturas da Ulna/cirurgia , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/etiologia , Luxações Articulares/cirurgia , Rádio (Anatomia) , Fraturas do Rádio/cirurgia , Traumatismos do Punho/cirurgia , Articulação do Punho/cirurgia
10.
Knee Surg Sports Traumatol Arthrosc ; 31(12): 5962-5969, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37737320

RESUMO

PURPOSE: Acromioclavicular joint (ACJ) dislocations are usually graded radiographically according to Rockwood, but differentiation between Rockwood types III and V may be ambiguous. The potentially clinically relevant horizontal instability is barely addressed in coronal radiographs. It was hypothesized that a new radiologic parameter (V angle) would complement ACJ diagnostics on anteroposterior radiographs by differentiating between cases of Rockwood III and V while also considering the aspect of dynamic horizontal translation (DHT). METHODS: Ninety-five patients with acute ACJ dislocations (Rockwood types III and V) were included retrospectively between 2017 and 2020. On anteroposterior views (weightbearing: n = 62, non-weight-bearing: n = 33), the coracoclavicular (CC) distance and the newly introduced V angle for assessing scapular orientation were measured bilaterally. This angle is referenced between the spinal column and a line crossing the superior scapular angle and the crossing point between the supraspinatus fossa and the medial base of the coracoid process, reported as the side-comparative difference (non-injured side *minus* injured side). DHT on Alexander views was divided into stable, partially unstable or completely unstable. RESULTS: The V angle on the injured side alone (mean 50.0°; 95% confidence interval (CI), 48.6°-51.3°) showed no correlation with the side-comparative CC distance [%] (r = - 0.040; n.s.). Thus, the V angle on the non-injured side was considered, displaying a normal distribution (n.s.) with a mean of 58.0° (95% CI, 56.6°-59.4°). The side-comparative V angle showed a correlation with the side-comparative CC distance (r = 0.83; p < 0.001) and was able to differentiate between Rockwood types III (4.7°; 95% CI, 3.9°-5.5°; n = 39) and V (10.3°; 95% CI, 9.7°-11.0°; n = 56) (p < 0.001). A cut-off value of 7° had a 94.6% sensitivity and an 82.1% specificity (area under curve, AUC: 0.954; 95% CI, 0.915-0.994). The side-comparative V angle was greater for cases with complete DHT (8.7°; 95% CI, 7.9°-9.5°; n = 78) than for cases with partial DHT (4.8°; 95% CI, 3.3°-6.3°; n = 16) (p < 0.001). A cut-off value of 5° showed a sensitivity of 84.6% and a specificity of 66.7% (AUC 0.824; 95% CI, 0.725-0.924). CONCLUSION: The scapular-based V angle on anteroposterior radiographs distinguishes between Rockwood types III and V as well as cases with partial or complete DHT. STUDY DESIGN: Diagnostic study. LEVEL OF EVIDENCE: Level II.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Humanos , Articulação Acromioclavicular/diagnóstico por imagem , Estudos Retrospectivos , Luxação do Ombro/diagnóstico por imagem , Luxações Articulares/diagnóstico por imagem , Radiografia , Resultado do Tratamento
11.
J Shoulder Elbow Surg ; 32(6): 1295-1302, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36813227

RESUMO

BACKGROUND: Classification and treatment of acromioclavicular joint (ACJ) dislocations according to the Rockwood classification is controversial. The "circles measurement" on Alexander views was proposed to enable a clear assessment of displacement in ACJ dislocations. However, the method and its ABC classification were introduced on a Sawbones model based on exemplary Rockwood scenarios without soft tissue. This is the first in vivo study to investigate the circles measurement. We aimed to compare this new measurement method with the Rockwood classification and the previously described semiquantitative degree of dynamic horizontal translation (DHT). METHODS: A total of 100 consecutive patients (87 men and 13 women) with acute ACJ dislocations between 2017 and 2020 were included retrospectively. The mean age was 41 years (range, 18-71 years). ACJ dislocations on panoramic stress views were classified according to Rockwood type (type II, n = 8; type IIIA, n = 9; type IIIB, n = 24; type IV, n = 7; and type V, n = 52). On Alexander views, where the hand of the affected arm rested on the contralateral shoulder, the circles measurement and the semiquantitative degree of DHT (none, n = 6; partial, n = 15; or complete, n = 79) were assessed. Convergent and discriminant validity of the circles measurement (including its ABC classification according to displacement) with the coracoclavicular distance and Rockwood types, as well as the semiquantitative degree of DHT, was tested. RESULTS: The circles measurement showed a strong correlation with the coracoclavicular distance according to the Rockwood classification (r = 0.66, P < .001) and differentiated between Rockwood types according to the ABC classification, including types IIIA and IIIB. The circles measurement correlated with the semiquantitative method of assessing DHT (r = 0.61, P < .001). Measurement values were smaller in cases without DHT than in cases with partial DHT (P = .008). Cases with complete DHT had respectively larger measurement values (P < .001). CONCLUSION: In this first in vivo study, the circles measurement allowed differentiation between Rockwood types according to the ABC classification in acute ACJ dislocations with a single measurement and correlated with the semiquantitative degree of DHT. On the basis of these validations of the circles measurement, its use for evaluating ACJ dislocations is recommended.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Masculino , Humanos , Feminino , Adulto , Luxações Articulares/diagnóstico por imagem , Articulação Acromioclavicular/diagnóstico por imagem , Estudos Retrospectivos , Luxação do Ombro/diagnóstico por imagem , Ombro , Resultado do Tratamento
12.
J Foot Ankle Surg ; 62(5): 877-882, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37348750

RESUMO

Collapsing foot deformity (CFD) and its resulting sequelae caused by recurring talotarsal joint dislocation (RTTJD) affects pediatric and adult patients. An extraosseous talotarsal stabilization (EOTTS) procedure, a subset of subtalar arthroereisis (SA) procedures, is recommended as a minimally invasive, first in-line surgical treatment option for CFD. The aim of this multicenter, retrospective study was to evaluate patient-reported outcomes measures in patients who were treated for RTTJD with Type II EOTTS implants. Sixty-seven cases having a median age of 38 years (range: 10-74) with more than 5 years of follow-up were included in this study. The mean postoperative visual analog scale and Maryland Foot Score was 1.0 ± 1.9 and 92.3 ± 11.3, respectively, indicating excellent clinical outcomes. Subjectively, 88% cases reported as being satisfied with the outcome, 94% cases said they would recommend EOTTS, and 93% said that, if necessary, they would repeat it on their contralateral foot. A subgroup analysis revealed that while not statistically significant, clinical outcomes were slightly better in pediatric patients compared to adults. Implant removal rate was 4.5% (3 cases), and these were in the adult group only. Rate of minor issues such as pain, stiffness, discomfort, etc. was 15%; however, no serious adverse effects or complications were observed in any patient. This study suggests that EOTTS is an effective surgical treatment option wherein successful long-term clinical outcomes with low failure rates can be achieved in a select patient population.


Assuntos
Pé Chato , Luxações Articulares , Instabilidade Articular , Adulto , Humanos , Criança , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Seguimentos , Instabilidade Articular/cirurgia , Instabilidade Articular/complicações , Estudos Retrospectivos , Luxações Articulares/cirurgia , Luxações Articulares/complicações , Pé/cirurgia , Pé Chato/cirurgia
13.
Medicina (Kaunas) ; 59(11)2023 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-38004007

RESUMO

Anterior dislocation of the coccyx is rare, but it can occur due to trauma. Conservative treatment is usually performed. However, dislocation reduction may be required to control severe pain in the acute phase or to prevent chronic complications. If manual reduction fails, open reduction is required. The extent of the incision and the method used to maintain the reduction should be considered during open reduction. A 56-year-old male patient experienced a dislocation of the sacrococcygeal joint after falling backwards. Despite conservative treatment, the patient complained of persistent pain during sitting and when using the bathroom. A manual reduction was attempted but failed. We performed joystick reduction via minimal incision and maintained the reduction using a one-strand trans-osseous suture passing through the skin. The patient was advised to use a soft cushion when sitting or lying down for four weeks after surgery. The supine position was not restricted. The patient's symptoms significantly improved after surgery. At the 6-month follow-up, the sacrococcygeal joint showed good alignment and no surgical complications occurred. During the treatment of sacrococcygeal dislocation, the rapid alleviation of acute pain and minimizing potential complications are key points. If open reduction is needed, the minimally invasive reduction technique with a one-strand trans-osseous suture may offer patient satisfaction and a good surgical outcome.


Assuntos
Luxações Articulares , Masculino , Humanos , Pessoa de Meia-Idade , Luxações Articulares/cirurgia , Luxações Articulares/diagnóstico , Cóccix/cirurgia , Cóccix/lesões , Dor
14.
Hum Mutat ; 43(12): 2116-2129, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36150098

RESUMO

Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been reported to have this condition to date. The molecular pathogenesis related to primary ciliogenesis has not been enumerated in subjects with SEMDJL3. In this study, we report two additional affected individuals from unrelated families with biallelic pathogenic variants, c.2122+15447_2197-59588del and c.401T>G in EXOC6B identified by exome sequencing. One of the affected individuals had an intellectual disability and central nervous system anomalies, including hydrocephalus, hypoplastic mesencephalon, and thin corpus callosum. Using the fibroblast cell lines, we demonstrate the primary evidence for the abrogation of exocytosis in an individual with SEMDLJ3 leading to impaired primary ciliogenesis. Osteogenesis differentiation and pathways related to the extracellular matrix were also found to be reduced. Additionally, we provide a review of the clinical and molecular profile of all the mutation-proven patients reported hitherto, thereby further characterizing SEMDJL3. SEMDJL3 with biallelic pathogenic variants in EXOC6B might represent yet another ciliopathy with central nervous system involvement and joint dislocations.


Assuntos
Luxações Articulares , Instabilidade Articular , Osteocondrodisplasias , Humanos , Instabilidade Articular/genética , Osteocondrodisplasias/genética , Osteocondrodisplasias/patologia , Mutação , Proteínas de Ligação ao GTP/genética
15.
Am J Med Genet A ; 188(7): 2162-2167, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35316564

RESUMO

Multiple synostoses syndromes (SYNS) are autosomal dominant syndromes characterized by multiple joint fusions commonly involving the carpal-tarsal, interphalangeal, humeroradial, and cervical spine joints. They display genetic heterogeneity with pathogenic variants reported in four separate genes (NOG, GDF5, FGF9, and GDF6) defining four different SYNS forms. FGF9 variants have been reported in SYNS3, a SYNS with multiple synostoses, normal cognition, normal hearing, and craniosynostosis. Here, we report a novel FGF9 c.569G > C p.(Arg190Thr) variant identified by whole-exome sequencing in a patient with multiple bony abnormalities. The patient initially presented with elbow instability and decreased range of motion. Imaging revealed bilateral radial head deformities, carpal-tarsal fusions, brachydactyly, and osteoarthritis of the sacroiliac joints. In silico protein modeling of the identified FGF9 variant predicts decreased stability of ligand-receptor binding supporting the pathogenicity of this finding. This finding expands the repertoire of FGF9 variants and phenotypic information reported for SYNS3 and suggest that genotype phenotype correlations due to localization seem less likely and more so due to the consequence of the pathogenic variant on the receptor. This is useful in the counseling in families as more de novo variants emerge.


Assuntos
Craniossinostoses , Articulação do Cotovelo , Instabilidade Articular , Sinostose , Proteínas de Transporte/genética , Articulação do Cotovelo/metabolismo , Articulação do Cotovelo/patologia , Fator 9 de Crescimento de Fibroblastos/genética , Fator 9 de Crescimento de Fibroblastos/metabolismo , Humanos , Linhagem , Síndrome , Sinostose/genética , Sinostose/patologia
16.
BMC Musculoskelet Disord ; 23(1): 36, 2022 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-34986817

RESUMO

BACKGROUND: Glenohumeral dislocation combined with fracture of the proximal humerus is extremely rare in children, and this study aims to investigate its incidence in the pediatric population and review the treatment strategy for this condition. METHODS: Between Jan 2014 and Jan 2019, 280 patients with unilateral proximal humeral fractures were retrospectively reviewed. Imaging and follow-up notes were reviewed for patients with a predilection for glenohumeral joint dislocation. Six (2.14%) patients between the ages of 5 and 10 years were confirmed as glenohumeral joint dislocation and included in the study. All these patients underwent closed reduction and external fixation under general anesthesia. RESULTS: Out of 280 patients with proximal humeral fractures, only 6 patients, including 4 males and 2 females, were confirmed as glenohumeral joint dislocation. ROM was normal compared with the contralateral shoulder in every patient at the last follow-up. There was no case of radiological abnormality, including avascular necrosis or devascularization of the humeral head. CONCLUSIONS: Glenohumeral dislocation is a rare entity associated with the proximal humerus fracture in children, with an overall incidence in our case series was 2.14%. Reduction and stabilization of such injury using an external fixator is a suitable choice for pediatric patients that failed closed reduction.


Assuntos
Fraturas do Úmero , Luxação do Ombro , Fraturas do Ombro , Articulação do Ombro , Criança , Pré-Escolar , Feminino , Fixação Interna de Fraturas , Humanos , Cabeça do Úmero , Masculino , Estudos Retrospectivos , Luxação do Ombro/diagnóstico por imagem , Luxação do Ombro/epidemiologia , Luxação do Ombro/cirurgia , Fraturas do Ombro/diagnóstico por imagem , Fraturas do Ombro/epidemiologia , Fraturas do Ombro/cirurgia , Resultado do Tratamento
17.
BMC Musculoskelet Disord ; 23(1): 15, 2022 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-34980065

RESUMO

PURPOSE: Double-endobutton technique, as a widely accepted strategy for the treatment of acromioclavicular joint dislocation, is undergoing constant improvement. This study aims to assess the clinical effect of a modified single-endobutton combined with the nice knot in the fixation of Rockwood type III or V acromioclavicular joint dislocation. METHODS: From January 2016 to June 2019, 16 adult patients (13 males and 3 females) with Rockwood type III or V acromioclavicular joint dislocation were treated with a modified single-endobutton technique combined with the nice knot in our department. The age ranged from 18 to 64 years old with an average of 32.8 years old. Operative time, intraoperative blood loss, post-operative clinical outcomes and radiographic results were recorded and analyzed. Preoperative and last follow-up scores in the Constant-Murley Scale, Neer score, Rating Scale of the American Shoulder and Elbow Surgeons and VAS scale and complications such as infection, re-dislocation, implant loosening, medical origin fracture and hardware pain were recorded and evaluated. RESULTS: Sixteen patients were followed up for 6 to 18 months with an average of 10.3 months. The operative time was 50-90 min with an average of (62.5 ± 3.10) min. The intraoperative blood loss was 30-100 ml, with an average of (55.0 ± 4.28) ml. The complications, such as wound infection, internal fixation failure and fractures, were not found in these cases. According to Karlsson criteria, there were excellent in 14 cases, good in 2 cases at the final follow-up. The mean VAS score of the patients was 5.88 ± 0.26 preoperatively, compared with 0.19 ± 0.14 at the final follow-up evaluation. The difference was statistically significant (P < 0.05). The mean Constant score was 45.5 ± 2.0 preoperatively, compared to 94.0 ± 0.73 at the final follow-up evaluation. The difference was statistically significant (P < 0.05). Patients had statistically significant preoperative and postoperative AC (acromioclavicular distance) and CC (coracoclavicular distance) distances (P < 0.05); 6 months postoperatively the AC(P = 0.412) and CC(P = 0.324) distances were not statistically significant compared to the healthy side. CONCLUSION: Nice knot provides a reliable fixation for the single-endobutton technique in the treatment of acromioclavicular dislocations. The modified single-endobutton technique combined with the nice knot can achieve good clinical outcomes in the treatment of Rockwood type III or V acromioclavicular joint dislocation.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/cirurgia , Adolescente , Adulto , Feminino , Fixação Interna de Fraturas , Humanos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Luxação do Ombro/diagnóstico por imagem , Luxação do Ombro/cirurgia , Resultado do Tratamento , Adulto Jovem
18.
BMC Musculoskelet Disord ; 23(1): 350, 2022 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-35410232

RESUMO

BACKGROUND: We aimed to compare the intraoperative and early postoperative clinical outcomes of using an acromioclavicular joint hook plate (AJHP) versus a locking plate (LP) in the treatment of anterior sternoclavicular joint dislocation. METHODS: Seventeen patients with anterior sternoclavicular joint dislocation were retrospectively analyzed from May 2014 to September 2019. Six patients were surgically treated with an AJHP, and 11 were surgically treated with an LP. Five male and one female patients composed the AJHP group, and nine male and two female patients composed the LP group. The mean age of all patients was 49.5 years. RESULTS: Reduction and fixation were performed with AJHP or LP in all 17 patients. The mean operative blood loss, operative time, and length of incision in the AJHP group were significantly better than those in the LP group. Shoulder girdle movement of the AJHP group was significantly better than that of the LP group. CONCLUSIONS: This study revealed that AJHP facilitated glenohumeral joint motion, reduced the risk of rupture of mediastinal structures, required a shorter incision, and had lesser blood loss and a shorter duration of operation compared with LP. However, some deficiencies require further improvement.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Luxação do Ombro , Articulação Esternoclavicular , Traumatismos Torácicos , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/cirurgia , Feminino , Humanos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Luxação do Ombro/cirurgia , Articulação Esternoclavicular/diagnóstico por imagem , Articulação Esternoclavicular/cirurgia , Resultado do Tratamento
19.
BMC Musculoskelet Disord ; 23(1): 42, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-35012506

RESUMO

BACKGROUND: Surgical fixation using hook plates is widely used in the treatment of acromioclavicular (AC) joint dislocations. The purpose of this study was to evaluate the incidence and shape of subacromial erosions after removal of the hook plate in type 5 AC joint dislocations. Further, we evaluated the effect of the shape of the subacromial erosion on the rotator cuff. METHODS: We retrospectively reviewed 30 patients who underwent hook plate fixation for type 5 AC joint dislocations at our hospital between December 2010 and December 2018. Patients with a follow-up of at least 1 year were included. Clinical outcomes were assessed using the final follow-up Constant-Murley, Korean Shoulder, and visual analog scores. To ensure that the appropriate reduction was well maintained, the coracoclavicular distances of the injured and contralateral sides were evaluated at the last follow-up. Computed tomography was performed to investigate the presence and shape of the subacromial erosion after hook plate removal at 4 months after surgery. Ultrasonography was performed to investigate the presence of rotator cuff lesions at the last follow-up. Clinical and radiological outcomes were compared between groups divided according to the presence and types of subacromial erosions. RESULTS: Subacromial erosion was observed in 60% of patients (18/30): 13, 2, and 3 simple groove, cave, and marginal protrusion types, respectively. Four patients showed reduction loss at the final follow-up. There were no significant differences in clinical and radiological outcomes between the groups with and without subacromial erosion. Moreover, there were no significant differences between groups according to the types of subacromial erosion. There were no rotator cuff lesions, such as partial tears, in the injured shoulders. CONCLUSIONS: Hook plate fixation may induce subacromial erosions. However, the subacromial erosions caused by the hook plate did not affect the clinical outcomes of type 5 AC joint dislocations. Moreover, regardless of its shape, the subacromial erosion did not affect the clinical outcomes nor cause rotator cuff lesions after plate removal.


Assuntos
Articulação Acromioclavicular , Luxações Articulares , Placas Ósseas , Clavícula , Humanos , Estudos Retrospectivos , Manguito Rotador , Resultado do Tratamento
20.
BMC Musculoskelet Disord ; 23(1): 301, 2022 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-35351099

RESUMO

OBJECTIVE: To compare the outcomes of open reduction and hook plate fixation (ORHPF) and modified TightRope loop plate fixation (MTRLPF) in the treatment of Rockwood type III acromioclavicular joint dislocation. METHODS: This was a retrospective study. Data on 71 patients with Rockwood type III acromioclavicular joint dislocation who underwent either ORHPF (n = 39) or MTRLPF (n = 32) between January 2016 and October 2019 were extracted and analyzed. Baseline data at injury were compared to evaluate the balance. The disabilities of the arm, shoulder, and hand (DASH) score, Constant-Murley score and visual analog scores (VAS) score at 1 month, 3 months, 6 months and 12 months after operation were compared; further, at 12 months coracoclavicular distance and related complications were evaluated and compared. RESULTS: Both groups did not differ for any baseline data. At 1 and 3 months after operation, MTRLPF group exhibited a significantly better performance than the ORHPF group in VAS (1 month: 2.4 ± 1.8 vs 3.0 ± 1.7; 3 months: 1.2 ± 1.4 vs 1.8 ± 1.6), Constant-Murley (1 month: 75.2 ± 11.2 vs 63.8 ± 13.7; 3 months: 81.4 ± 9.8 vs 75.8 ± 10.6), DASH (1 month: 33.6 ± 6.8 vs 40.6 ± 6.1; 3 months: 21.2 ± 7.4 vs 25.6 ± 6.6). At 6 months, only Constant-Murley remained marginally significant (p = 0.048). At 12 months, no statistical difference was observed for any outcome variable (all P > 0.05 for VAS, Constant-Murley and DASH), coracoclavicular distance (12.7 ± 1.6 mm vs 12.2 ± 1.6 mm; P = 0.374), or overall complication rate (P = 0.763). CONCLUSIONS: For Rockwood type III acromioclavicular joint dislocation, both methods can achieve satisfactory 1-year results, but modified minimally invasive TightRope treatment is more advantageous in early functional recovery at 1 and 3-month follow-ups.


Assuntos
Articulação Acromioclavicular , Luxação do Ombro , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/lesões , Articulação Acromioclavicular/cirurgia , Placas Ósseas , Humanos , Estudos Retrospectivos , Luxação do Ombro/diagnóstico por imagem , Luxação do Ombro/cirurgia , Resultado do Tratamento
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