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Journal of Stomatology, Oral and... Jun 2024The authors retrospectively studied the relationship between the morphology and position of the articular disc in magnetic resonance imaging (MRI) and the morphology and...
BACKGROUND
The authors retrospectively studied the relationship between the morphology and position of the articular disc in magnetic resonance imaging (MRI) and the morphology and position of the condyle in cone beam computed tomography (CBCT), with the purpose for providing reference for clinical diagnosis and treatment of temporomandibular disorders (TMD).
METHODS
Patients with both CBCT and MRI imaging data were studied retrospectively, excluding TMJ tumour, fracture, severe condylar morphological abnormalities, non-intercuspal position, and poor quality images. A total of 744 temporomandibular joints (TMJs) from 372 patients were included, with the mean age of 25.94±11.04Y (75 males and 297 females). T2-weighted image (T2WI) of MRI imagings were used to evaluate disc morphology and disc displacement, while CBCT was obtained to evaluate the condylar bone and sagittal condylar position. Data were analysed by Pearson Chi square test and Spearman correlation coefficient.
RESULTS
THE DISTRIBUTION OF 744 TMJS IS AS FOLLOWS: 1) DISC MORPHOLOGY: contracture (37.1 %) > biconcave (32.9 %) > irregular (18.5 %) > lengthened (11.4 %); 2) disc position: ADDWoR (48.3 %) > NA (26.9 %) > ADDWR (21.6 %) > PDDWR (2.8 %) > PDDWoR (0.4 %); 3) condylar position: concentric (43.7 %) > posterior (37.6 %) > anterior (18.7 %); 4) condylar bone: normal (63.4 %)> abnormal (36.6 %). There were significant differences in the distribution of disc morphology and disc position between the sex (P < 0.05). There were significant differences in the distribution of disc position and condylar morphology amongst the age groups (P < 0.05). There were significant differences in the distribution of disc position, condylar position and condylar morphology amongst disc morphology (P < 0.05), and there were positive correlation between disc position(r = 0.703, P = 0.000), the score of condyle (r = 0.478, P = 0.000) and disc morphology respectively. There were significant differences in the distribution of disc position and condylar position amongst condylar morphology (P < 0.05). There was a positive correlation between disc position and condyle morphology (r = 0.413, P = 0.000), and a negative correlation between condyle position and condyle morphology (r=-0.152, P = 0.000). There were significant differences in the distribution of disc position amongst condylar position (P < 0.05), but there was no linear correlation (P = 0.159).
CONCLUSIONS
The mutual distribution of disc morphology, disc position, condylar morphology and condylar position was statistically significant. Disc displacement did not necessarily lead to condylar bone changes, but 92.7 % TMJs with condylar bone abnormalities had disc displacement.
TRIAL REGISTRATION
This study was retrospectively registered on 28/03/2022 and endorsed by the Ethics committee (LCYJ2022014).
PubMed: 38857693
DOI: 10.1016/j.jormas.2024.101940 -
Clinical Genetics Jun 2024Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births....
Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and multiple pterygium syndrome. In contrast, MYH3 variants underlie both dominantly and recessively inherited Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterized by extensive bony abnormalities in addition to congenital contractures. Here we report two affected sibs with distal arthrogryposis born to unaffected, distantly related parents. Sequencing revealed that both sibs were homozygous for two ultra-rare MYH3 variants, c.3445G>A (p.Glu1149Lys) and c.4760T>C (p.Leu1587Pro). Sequencing and deletion/duplication analysis of 169 other arthrogryposis genes yielded no other compelling candidate variants. This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in MYH3.
PubMed: 38856159
DOI: 10.1111/cge.14570 -
Journal of Hand and Microsurgery Mar 2024Contracture release followed by full-thickness skin grafting is often performed while releasing severe contracture of the digits. We report a technique for flexion...
Contracture release followed by full-thickness skin grafting is often performed while releasing severe contracture of the digits. We report a technique for flexion contracture of the finger, by using two triangular flaps from either side of the digit as a firebreak over the proximal interphalangeal (PIP) joint while using a skin graft following contracture release. We reviewed the medical records of patients who underwent contracture release at our institution from January 2018 to July 2021, and this technique was used for the release of flexion contracture of the five digits belonging to four patients. Our technique used triangular flaps from either side of the digit, which were rotated and brought over the PIP region, and hence, a single sheet of graft spanning the PIP joint is avoided. We believe that this acts as a firebreak and thus reduces the recurrence of contracture at the PIP joint.
PubMed: 38854379
DOI: 10.1055/s-0043-1761221 -
Nonoperative Treatment of Dupuytren's Contracture: The Use of Ultrasound Imaging to Assess Efficacy.Journal of Hand and Microsurgery Mar 2024We have used ultrasound imaging technology to objectively demonstrate changes in the degree and quality of diseased fascia in patients with Dupuytren's disease treated...
OBJECTIVE
We have used ultrasound imaging technology to objectively demonstrate changes in the degree and quality of diseased fascia in patients with Dupuytren's disease treated nonoperatively with therapeutic splinting and tissue mobilization.
MATERIALS AND METHODS
Measurement of active proximal interphalangeal and metacarpophalangeal joint extension along with ultrasound elastography imaging of the fascia was performed prior to, and 6 months after, the initiation of therapy.
RESULTS
Improvement in active joint extension over the course of therapy was associated with a consistent decrease in the radiologic dimensions of the diseased fascia in combination with qualitative changes in its composition.
CONCLUSION
The use of a simple orthosis and soft tissue mobilization techniques have a quantifiable effect on the degree of deformity and the quantity and quality of contracted fascia in Dupuytren's disease, and would appear to have a role in the management of mild to moderate presentations of the disease when enzymatic or surgical interventions may not be practical.
PubMed: 38854375
DOI: 10.1055/s-0042-1748780 -
The American Journal of Case Reports Jun 2024BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no...
BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.
Topics: Humans; Female; Adult; Hearing Loss, Sensorineural; Disease Progression; Histiocytosis; Nucleoside Transport Proteins; Treatment Failure; Contracture
PubMed: 38850017
DOI: 10.12659/AJCR.944198 -
The Journal of Craniofacial Surgery Jun 2024Hyaline fibromatosis syndrome (HFS) is a rare congenital disorder characterized by abnormal hyaline deposition within soft tissues. Hyaline fibromatosis syndrome...
Hyaline fibromatosis syndrome (HFS) is a rare congenital disorder characterized by abnormal hyaline deposition within soft tissues. Hyaline fibromatosis syndrome manifests in 2 distinct forms: (1) infantile systemic hyalinosis and (2) juvenile hyaline fibromatosis. Infantile systemic hyalinosis, the more severe form, typically emerges in early childhood with extensive systemic involvement. In contrast, juvenile HFS is less severe, allowing patients to survive into adulthood. Common clinical manifestations include thickened skin, hyperpigmented patches, gingival hypertrophy, skin nodules, and progressive severe joint contractures, leading to significant morbidity and potential mortality. This case report describes a 7-year-old child who was diagnosed with HFS and presented with a very large, ulcerated, rapidly expanding craniofacial mass. The patient underwent successful treatment involving a multidisciplinary medical team and strategic surgical intervention, achieving favorable postoperative outcomes.
PubMed: 38847516
DOI: 10.1097/SCS.0000000000010401 -
Annals of Medicine and Surgery (2012) Jun 2024Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 diabetes mellitus (DM). It affects 8-50% of...
BACKGROUND
Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 diabetes mellitus (DM). It affects 8-50% of patients with type 1 diabetes and is also seen in type 2 diabetic patients. Consequently, it can mimic many rheumatological diseases and is often underdiagnosed. The authors present a case of a long-standing poorly controlled diabetes with diabetic cheiroarthropathy and diabetic neuropathy, along with positive ANA in the absence of any correlated autoimmune or rheumatological diseases.
CASE PRESENTATION
A 52-year-old female patient with poorly controlled diabetes (her last HbA1c reading was 9.5%) presented to the Rheumatology clinic with flexion deformities of the fingers. The patient has impaired vibration, two-point discrimination, and pinprick sensation in gloves and stock distribution, indicating peripheral neuropathy, entrapment neuropathy in the forms of bilateral carpal tunnel syndrome, and the diagnosis of diabetic cheiroarthropathy was made. Additionally, she has a positive prayer sign and a tabletop sign. Despite the absence of symptoms and signs of autoimmune disorders, this patient has positive anti-nuclear antibodies global (ANA positive by indirect immuno-fluorescence (IIF) 1\320 nucleolar pattern) with a negative: ANA profile, rheumatoid factor (RF) and anticyclic citrullinated peptide antibody (ACPA).
CONCLUSION
Regular and careful hand examination should be part of clinical assessment for diabetic patients as it could be a very simple and useful screening tool for diabetic cheiroarthropathy. Physicians can use this condition as a mirror for microvascular complications of diabetes. This allows for early detection and appropriate interventions to prevent further progression of diabetes-related complications. It is also essential to consider the presence of positive ANA in diabetic cheiroarthropathy despite the absence of any rheumatological and autoimmune diseases.
PubMed: 38846876
DOI: 10.1097/MS9.0000000000001993 -
Archives of Dermatological Research Jun 2024Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint movement. Multiple diverse phenotypes have been reported, and...
BACKGROUND
Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint movement. Multiple diverse phenotypes have been reported, and the correlation of severity with the clinical heterogeneity and histopathological findings of SSS needs to be refined.
OBJECTIVE
To define subtypes based on clinical features and predict the prognosis of a new SSS classification.
METHODS
Eighty-three patients with SSS were retrospectively reviewed for clinicopathological manifestations and routine laboratory workup, including 59 cases obtained from a PubMed search between 1971 and 2022 and 24 cases diagnosed in our department between 2003 and 2022.
RESULTS
Among the 83 patients, 27.7, 41, and 31.3% had classic widespread, generalized segmental, and localized SSS, respectively. Joint immobility was present in 100, 71, and 20% of classic, generalized, and localized cases, respectively. Histopathologic findings were common among the 3 groups, and based on that, we further found a difference in the distribution of proliferative collagen. 54.5% of classic and 50% of generalized cases occurred throughout the dermis or the subcutis, whereas 76% of localized cases were mainly involved in the reticular dermis or subcutis. In patients with incipient localized SSS, 42% (21/50) developed generalized SSS, and only 6% (3/50) progressed to classic SSS, whereas more than half of the incipient generalized SSS cases (60.6%, 20/33) developed classic SSS.
LIMITATIONS
This retrospective study was limited to previously published cases with limited data.
CONCLUSIONS
We propose a distinct clinical classification characterized by lesion distribution, including classic widespread, generalized segmental, and localized SSS, associated with disease severity and prognosis.
Topics: Humans; Female; Male; Retrospective Studies; Adult; Middle Aged; Adolescent; Skin; Young Adult; Child; Prognosis; Skin Diseases, Genetic; Aged; Severity of Illness Index; Child, Preschool; Collagen; Contracture
PubMed: 38844593
DOI: 10.1007/s00403-024-03090-1 -
The Knee Jun 2024This study investigates the association between additional distal femoral resection and improved flexion contracture in total knee arthroplasty (TKA) with a...
BACKGROUND
This study investigates the association between additional distal femoral resection and improved flexion contracture in total knee arthroplasty (TKA) with a robot-assisted system. Flexion contracture is a common issue in patients with knee osteoarthritis, which causes postoperative complications and functional limitations. This study aims to evaluate the effectiveness of additional bone resection in flexion contracture correction and knee extension angle improvement after the actual surgical steps.
METHODS
The study included 11 patients who underwent posterior-stabilized (PS)-type TKA with a robot-assisted system. The surgical technique consisted of precise bone resection and range of motion evaluation using a navigation system. A precut technique was used to facilitate posterior access and remove osteophytes that cause the contracture. The amount of additional distal femoral resection was determined based on the thickness of the insert trial required for achieving full extension.
RESULTS
The flexion contracture correction angle and the amount of additional distal femoral resection demonstrated a linear relationship. An average of 2.0° with the standard error (SE) of 0.6° improvement in flexion contracture was observed per 1.0 mm of additional bone resection. The postoperative evaluation demonstrated a significant improvement in knee extension angle, thereby reducing the contracture degree.
CONCLUSION
This study was the first to perform the additional distal femoral resection on the living knee, which closely replicates the actual surgical steps. The current study revealed that an additional 1.0 mm of distal femoral resection in PS-type TKA improves knee extension angle by 2.0° (SE 0.6°) within an additional resection range of 1.0 mm to 3.3 mm.
PubMed: 38843674
DOI: 10.1016/j.knee.2024.05.007 -
Arthroscopy Techniques May 2024Checkrein deformity is rare and involves entrapment or fixed tethering of the flexor hallucis longus (FHL) in the posterior foot, just proximal to the flexor retinaculum...
Checkrein deformity is rare and involves entrapment or fixed tethering of the flexor hallucis longus (FHL) in the posterior foot, just proximal to the flexor retinaculum of the ankle, and causes the "constant length phenomenon" of FHL. The clinical presentation is a dynamic flexion deformity of the great toe characterized by flexion contracture of the interphalangeal joint with mild extension contracture of the metatarsophalangeal joint, causing difficulty in walking since in the stance phase of gait, the hallux is forced into plantar flexion and impinges onto the ground. Because the FHL tendon has some interconnection to the tendons of the flexor digitorum longus at the master knot of Henry, deformities of the second and third toes are sometimes seen. There is no standard surgical treatment for checkrein deformity. Surgical release of the FHL muscle or release/lengthening of the FHL tendon has been proposed. The purpose of this Technical Note is to report the endoscopic release of the FHL tendon at the posterior ankle for management of checkrein deformity of the great toe, second toe, and third toe.
PubMed: 38835445
DOI: 10.1016/j.eats.2024.102936