keyword
https://read.qxmd.com/read/38674395/clinical-and-molecular-characterization-of-a-novel-homozygous-frameshift-variant-in-aebp1-related-classical-like-ehlers-danlos-syndrome-type-2-with-comparison-to-previously-reported-rare-cases
#1
JOURNAL ARTICLE
Zong Yi Ha, Chieko Chijiwa, Suzanne Lewis
Recently, an autosomal recessive subtype of connective tissue disorder within the spectrum of Ehlers-Danlos syndrome (EDS), named classical-like EDS type 2 (clEDS2), was identified. clEDS2 is associated with biallelic variants in the adipocyte enhancer binding protein 1 ( AEBP1 ) gene, specifically, affecting its aortic carboxypeptidase-like protein (ACLP) isoform. We described the 15th patient (13th family) diagnosed with clEDS2. This patient presented with notable similarities in phenotype to the documented cases, along with additional characteristics such as significant prematurity and short stature...
April 6, 2024: Genes
https://read.qxmd.com/read/38672488/joint-hypermobility-syndrome-and-membrane-proteins-a-comprehensive-review
#2
REVIEW
Raquel Pliego-Arreaga, Juan Antonio Cervantes-Montelongo, Guillermo Antonio Silva-Martínez, Fabiola Estefanía Tristán-Flores, Miguel Angel Pantoja-Hernández, Juan Raúl Maldonado-Coronado
Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms...
April 12, 2024: Biomolecules
https://read.qxmd.com/read/38664698/mid-and-long-term-clinical-results-of-the-elektra-and-moovis-prosthesis-for-trapeziometacarpal-joint-replacement
#3
JOURNAL ARTICLE
Pia-Elena Frey, Christin Bühner, Florian Falkner, Leila Harhaus, Benjamin Panzram
BACKGROUND: Total joint arthroplasty as a surgical treatment option for trapeziometacarpal joint arthritis is recently revived. The aim of this study is to report on mid- and long-term results of the Elektra (single-mobility) and Moovis (dual-mobility) prosthesis for treatment of primary thumb carpometacarpal joint arthritis. METHODS: In this retrospective, monocentric, descriptive cohort study, 31 prostheses were evaluated that were implanted by a single surgeon in 26 patients between 2009 and 2019...
April 25, 2024: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/38660749/ehlers-danlos-syndrome-cutaneous-asthenia-in-a-campbell-s-dwarf-hamster-phodopus-campbelli
#4
Jagoda Ciszewska-Ceran, Marcin Szczepanik, Piotr Wilkołek, Anna Śmiech, Anna Wilczyńska, Mateusz Szadkowski
A case of cutaneous asthenia in a Campbell's dwarf hamster is described. The animal was found to have hyperextensible skin, glaucoma and lens dislocation. Histopathological examination revealed an irregular, haphazard arrangement of collagen fibres in the dermis. The animal underwent surgical reduction of the skin folds which provided only temporary relief.
April 25, 2024: Veterinary Dermatology
https://read.qxmd.com/read/38632997/machine-learning-assisted-novel-recyclable-flexible-triboelectric-nanogenerators-for-intelligent-motion
#5
JOURNAL ARTICLE
Yuzhang Wen, Fengxin Sun, Zhenning Xie, Mengqi Zhang, Zida An, Bing Liu, Yuning Sun, Fei Wang, Yupeng Mao
In the smart era, big data analysis based on sensor units is important in intelligent motion. In this study, a dance sports and injury monitoring system (DIMS) based on a recyclable flexible triboelectric nanogenerator (RF-TENG) sensor module, a data processing hardware module, and an upper computer intelligent analysis module are developed to promote intelligent motion. The resultant RF-TENG exhibits an ultra-fast response time of 17 ms, coupled with robust stability demonstrated over 4200 operational cycles, with 6% variation in output voltage...
April 19, 2024: IScience
https://read.qxmd.com/read/38616597/functional-outcome-of-arthroscopic-suture-pull-out-fixation-in-tibial-spine-avulsion-of-anterior-cruciate-ligament
#6
JOURNAL ARTICLE
Bhadra Hamal, Utsav Regmi, Dinesh Bhandari, Pralhad Thapa, Roshan Bhagat Chaurasia, Sanjay Kumar Yadav
BACKGROUND: Tibial spine avulsion of the anterior cruciate ligament is a rare intraarticular injury of the knee. In this condition, the tibial attachment site of the anterior cruciate ligament is detached from the knee. The mechanism of the injury is hyperextension of the knee and rotation with valgus force. There are so many treatment options. This study aims to find out the functional outcome of Arthroscopic Suture pull-out fixation in this injury. METHODS: This is a retrospective study done from August 15, 2019, to August 14, 2022...
March 31, 2024: Journal of Nepal Health Research Council
https://read.qxmd.com/read/38587546/-subtuberosity-anterior-closing-wedge-osteotomy-to-correct-the-increased-posterior-slope-of-the-tibial-plateau
#7
REVIEW
Wolf Petersen, Hassan Al Mustafa, Martin Häner, Jörg Harrer, Karl Braun
OBJECTIVE: Reduction of increased reclination of the tibial plateau (posterior slope) to improve the anterior stability of the knee joint. INDICATIONS: Increased posterior reclination of the tibial plateau greater than 12° in combination with recurrent instability after anterior cruciate ligament (ACL) reconstruction. CONTRAINDICATIONS: Hyperextension of more than 15° (relative). SURGICAL TECHNIQUE: Anterior skin incision approximately 8-10 cm above the tibial tuberosity...
April 8, 2024: Operative Orthopädie und Traumatologie
https://read.qxmd.com/read/38541093/isokinetic-knee-muscle-strength-parameters-and-anthropometric-indices-in-athletes-with-and-without-hyperextended-knees
#8
JOURNAL ARTICLE
Sasa Bascevan, Barbara Gilic, Mirela Sunda, Marijana Geets Kesic, Petra Zaletel
Background and Objectives : Hypermobility has been linked to decreased knee performance, including isokinetic and isometric knee strength. This study aimed to determine whether athletes with and without knee hyperextension have different hamstring-to-quadriceps strength (H/Q) ratios and to investigate the associations between knee hyperextension indices and H/Q ratios and anthropometric characteristics. Materials and Methods : The sample consisted of 47 healthy male athletes without knee injuries aged 23.48 ± 3...
February 22, 2024: Medicina
https://read.qxmd.com/read/38523944/direction-specific-changes-in-trunk-muscle-synergies-in-individuals-with-extension-related-low-back-pain
#9
JOURNAL ARTICLE
Hiroki Saito, Hikaru Yokoyama, Atsushi Sasaki, Kimitaka Nakazawa
Background Identifying altered trunk control is critical for treating extension-related low back pain (ERLBP), a common subgroup classified by clinical manifestations. The changed coordination of trunk muscles within this group during particular trunk tasks is still not clearly understood. Objectives The objective of this study is to investigate trunk muscle coordination during 11 trunk movement and stability tasks in individuals with ERLBP compared to non-low back pain (LBP) participants. Methods Thirteen individuals with ERLBP and non-LBP performed 11 trunk movement and stability tasks...
February 2024: Curēus
https://read.qxmd.com/read/38523329/prevalence-of-mthfr-polymorphisms-in-patients-with-hypermobile-ehlers-danlos-syndrome-and-hypermobile-spectrum-disorders-in-a-us-hypermobility-clinic
#10
JOURNAL ARTICLE
Jacques Courseault, Meenakshi Umar, Patrick Bordnick, Jocelyn Simons, Milla Volic, Allison Stock, Gregory Bix
OBJECTIVE: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are characterized by joint hypermobility, joint subluxations and dislocations, hyperextensible skin, and chronic and progressive multiorgan comorbidities. Diagnosing hEDS and HSD is difficult because of variable phenotypes and unknown genetic etiology. In our clinic, we observed many patients with hEDS and HSD with a high serum level of unmetabolized folate, which suggests that hypermobility may be linked to methylenetetrahydrofolate reductase (MTHFR)-mediated folate metabolism...
March 24, 2024: ACR open rheumatology
https://read.qxmd.com/read/38510769/relationship-of-endotracheal-tube-cuff-pressures-with-changes-in-body-positions-of-critically-ill-patients-on-mechanical-ventilation-an-observational-study
#11
JOURNAL ARTICLE
Oendrila Roy, Sugata Dasgupta, Atanu Chandra, Puspendu Biswas, Arpita Choudhury, Shrestha Ghosh, Prithvijit Chatterjee
AIMS AND BACKGROUND: Endotracheal tube cuff pressure (ETCP) is an important factor to determine the development of complications associated with invasive mechanical ventilation. To avoid preventable complications arising out of immobilization, frequent changes in body positioning are necessary. Such variations in body position can affect ETCP in critically ill patients who are on mechanical ventilation. So, our study aimed to assess the effect of changes in body position on ETCP in patients who are on mechanical ventilation...
January 2024: Indian Journal of Critical Care Medicine
https://read.qxmd.com/read/38501332/assessing-the-risk-of-lumbar-degenerative-disc-disease-associated-with-swimming-a-systematic-review
#12
REVIEW
Connie Hsu, Timothy Genovese, Kelly C McInnis
OBJECTIVE: The purpose of the current study is to synthesize the outcomes of investigations reporting the odds of lumbar degenerative disc disease (DDD) in competitive swimmers compared to controls. LITERATURE SURVEY: PubMed, Embase, and Web of Science databases were searched according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines from inception until March 2023 to identify relevant studies evaluating the risk for lumbar DDD associated with swimming...
March 19, 2024: PM & R: the Journal of Injury, Function, and Rehabilitation
https://read.qxmd.com/read/38494164/clinical-features-and-classification-of-proximal-carpal-fracture-dislocation-through-the-radiocarpal-joint
#13
JOURNAL ARTICLE
Ge Xiong, Wei Zheng, Jin Zhu
Background: The most common types of wrist dislocation are trans-scaphoid lunate dislocation (TLD) and trans-scaphoid perilunate dislocation, in which the lunate and proximal scaphoid are dislocated through the midcarpal joint. There is another rare type of dislocation in which the proximal carpi are dislocated through the radiocarpal joint. The purpose of this study is to examine the clinical features of this type of dislocation. Methods: Six cases of the proximal carpal fracture dislocation via the radiocarpal joint were retrospectively reviewed...
March 15, 2024: Journal of Hand Surgery Asian-Pacific Volume
https://read.qxmd.com/read/38484773/turf-toe-injury-a-pictorial-review-and-a-didactic-case-report
#14
JOURNAL ARTICLE
Tom Claikens, Wahid Rezaie, Philip Simons
Hyperextension of the first metatarsophalangeal joint can lead to a turf toe injury of the plantar plate complex, resulting in significant morbidity for athletes. This article reviews the anatomy, pathophysiology, classification, and imaging findings of turf toe injuries. In turf toe trauma, many different structures can be injured, with the sesamoid-phalangeal ligaments the most common. Diagnosis, classification, and treatment options rely on clinical evaluation and specific magnetic resonance imaging findings...
April 2024: Seminars in Musculoskeletal Radiology
https://read.qxmd.com/read/38481615/a-novel-radiological-scoring-system-for-anterior-longitudinal-ligament-injuries
#15
JOURNAL ARTICLE
Yang Li, Yuling Sun, Ji Wu, Zhongya Gao, Youcai Qiu, Lin Han, Xuhua Lu
BACKGROUND AND AIM: Cervical hyperextension injury is very frequent with anterior longitudinal ligament (ALL) injury, and the ligament damage has a remarkable effect on whether and what type of operation should be performed. This study aims to establish a new scoring system for the accurate diagnosis of ALL damage. METHODS: The imaging data of the consecutive patients was measured and scored by four radiologists. Intraoperative exploration was performed by three surgeons...
2024: International Journal of General Medicine
https://read.qxmd.com/read/38476521/management-of-2-stage-breast-reconstruction-in-ehlers-danlos-syndrome-a-case-report
#16
Nehila Timothy, Madison Patrick, Deniz Dayicioglu
BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...
2024: Eplasty
https://read.qxmd.com/read/38473028/cervical-spondylotic-myelopathy-diagnostics-and-clinimetrics
#17
REVIEW
Józef Opara, Martyna Odzimek
Cervical myelopathy is referred to in many ways in the English literature, for example, as cervical spondylotic myelopathy ( CSM) , spondylotic radiculomyelopathy ( SRM ) or degenerative cervical myelopathy ( DCM ). In addition, more frequent occurrences are noted in older adults and to a greater extent in men. The causes of the effects of cervical myelopathy may be the appearance of lesions on the spinal cord, ischemia due to compression of the vertebral artery and repeated micro-injuries during maximal movements-hyperflexion or hyperextension...
March 6, 2024: Diagnostics
https://read.qxmd.com/read/38438512/automatic-measurement-of-fetal-anterior-neck-lower-jaw-angle-in-nuchal-translucency-scans
#18
JOURNAL ARTICLE
Yulin Peng, Yingchun Luo, Junyi Yan, Wenjuan Li, Yimin Liao, Lingyu Yan, Hefei Ling, Can Long
This study aims at suggesting an end-to-end algorithm based on a U-net-optimized generative adversarial network to predict anterior neck lower jaw angles (ANLJA), which are employed to define fetal head posture (FHP) during nuchal translucency (NT) measurement. We prospectively collected 720 FHP images (half hyperextension and half normal posture) and regarded manual measurement as the gold standard. Seventy percent of the FHP images (half hyperextension and half normal posture) were used to fit models, and the rest to evaluate them in the hyperextension group, normal posture group (NPG), and total group...
March 4, 2024: Scientific Reports
https://read.qxmd.com/read/38434166/suspected-malnutrition-induced-reversible-feline-skin-fragility-syndrome-in-a-cat-with-congenital-axial-deformities
#19
Yoshihiko Yu, Tadashi Miyamoto, Yui Kimura, Kazuhito Itamoto, Masaki Michishita, Hitoshi Hatakeyama, Tomokazu Nagashima, Rikako Asada, Tomomi Yamaguchi, Daisuke Hasegawa, Yoshihiro Nomura, Leslie A Lyons, Tomoki Kosho
A stray cat, an intact female Japanese domestic shorthair cat of unknown age (suspected to be a young adult), was rescued. The cat was lethargic and thin and had marked skin fragility, delayed wound healing without skin hyperextensibility, and hind limb proprioceptive ataxia and paresis. Survey radiography, computed tomography, and magnetic resonance imaging revealed congenital vertebral anomalies, including thoracolumbar transitional vertebrae, scoliosis resulting from a thoracic lateral wedge-shaped vertebra, and a kinked tail, and a dilated spinal cord central canal...
March 2024: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://read.qxmd.com/read/38408727/complications-of-prosthesis-versus-trapeziectomy-in-trapeziometacarpal-joint-arthritis-a-systematic-review
#20
REVIEW
Benoît Latelise, Estelle Ben Brahim, Laure Prasil, Morgan Freslon
OBJECTIVE: Thumb osteoarthritis is a frequent pathology, mainly affecting the elderly. The surgical treatment initially described and having proved its worth is total trapeziectomy. Since the advent of trapeziometacarpal prostheses, several studies showed the non-inferiority of this technique on clinical criteria, with superiority in bone sparing, although neither technique demonstrated overall superiority. We therefore examined the specific complications of each surgical technique by analyzing their nature and prevalence through a review of the literature to compare them on these new parameters...
February 24, 2024: Hand Surgery and Rehabilitation
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