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https://www.readbyqxmd.com/read/28508240/atlantoaxial-dislocation-and-os-odontoideum-in-two-identical-twins-perspectives-on-etiology
#1
Xiangsheng Tang, Mingsheng Tan, Ping Yi, Feng Yang, Qingying Hao
PURPOSE: There are two theories about the origin of os odontoideum: traumatic or congenital. However, most studies favor the hypothesis of traumatic theory. To emphasize the congenital theory, we report a pair of identical twins both with atlantoaxial dislocation and os odontoideum, which is believed to be a congenital defect. METHODS: We present two 14-year-old identical twins with atlantoaxial dislocation and os odontoideum. Neither of the twins had history of trauma in head nor cervical spine...
May 15, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28503431/a-pilot-study-of-intraocular-lens-explantation-in-69-eyes-in-chinese-patients
#2
Fang Chai, Bo Ma, Xin-Guang Yang, Juan Li, Mei-Fang Chu
AIM: To study the effects of intraocular lens (IOL) explantation and demographic characteristics. METHODS: Retrospective non-comparative case series. Clinical data recorded from patient charts included the following: demographic, preoperative and postoperative characteristics; complications; surgical methods, and changes in visual acuity. RESULTS: A total of 69 eyes in 67 Chinese patients who received IOL explants were studied. The patients' mean age at the time of explantation was 46...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28497452/an-attempt-to-throw-light-on-congenital-hip-disease-terminology-and-anticipation-of-clinical-outcomes-when-treated-with-total-hip-arthroplasty
#3
George Hartofilakidis, Kalliopi Lampropoulou-Adamidou, Theofilos S Karachalios
The terminology of the wide spectrum of hip deformities seen during the neonatal, infantile and adult life period remains controversial, mainly due to the indiscriminate use of the terms dysplasia, subluxation, congenital hip disease, developmental hip disease, congenital dislocation, etc. This has a serious implication on the anticipation of clinical outcomes, complications and comparison of different reconstructive techniques when these patients are treated with total hip arthroplasty in adulthood. Journals, specialising in this field, should publish homogeneous series (type of the disease, reconstruction technique, implants) in order to clarify arguments and anticipate clinical outcomes...
May 8, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28472514/evaluating-atlantoaxial-dislocation-based-on-cartesian-coordinates-proposing-a-new-definition-and-its-impact-on-assessment-of-congenital-torticollis
#4
Jayesh Sardhara, Sanjay Behari, Pavaman Sindgikar, Arun Kumar Srivastava, Anant Mehrotra, Kuntal Kanti Das, Kamlesh Singh Bhaisora, Rabi N Sahu, Awadhesh K Jaiswal
BACKGROUND: Conventional 2-dimensional (2-D) definition of atlantoaxial dislocation (AAD) is inadequate for coexisting 3-D displacements. OBJECTIVE: To prospectively classify AAD and its related abnormalities along 3 Cartesian coordinates and assess their association with torticollis. METHODS: One hundred and fifty-four patients with congenital AAD were prospectively classified according to their C1-2 displacement along 3 Cartesian coordinates utilizing 3-D multiplanar CT...
May 3, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28454779/congenital-extensor-tendon-dislocation-causing-pseudotriggering-of-the-little-finger
#5
Meriç Çırpar, Bülent Dağlar, Birhan Oktaş
The main complaints in extensor tendon dislocations are pain, swelling, sense of discomfort, snapping and difficulty in writing and forceful flexion. However, congenital extensor tendon subluxations may present with triggering of the fingers due to tendon dislocations. Unnecessary A1 pulley release may be performed for pseudotriggerring with unsuccessful results. Here, we report an unusual case of congenital extensor tendon subluxation of multiple digits with triggering of the left little finger and aim to attract notice to pseudotriggering of the digits due to tendon dislocations...
April 25, 2017: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/28383440/cementless-total-hip-arthroplasty-with-extended-sliding-trochanteric-osteotomy-for-high-congenital-hip-dislocation-a-retrospective-study
#6
Zhengliang Luo, Min Chen, Fei Hu, Zhe Ni, Xiaofeng Ji, Xiaoqi Zhang, Peng Cheng, Xifu Shang
Total hip arthroplasty (THA) for high congenital hip dislocation (CHD) is technically demanding. The purpose of this retrospective study was to evaluate the results of cementless THA combined with extended sliding trochanteric osteotomy. We also assessed whether chronic low back pain was relieved after surgery.The study included 19 patients (23 hips) with high CHD treated with cementless THA using extended sliding trochanteric osteotomy technique. Clinical and radiographic outcomes were evaluated.Harris Hip Score, WOMAC score, visual analog scale for low back pain and Trendelenburg sign were significantly improved (P < 0...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28362677/medial-approach-open-reduction-with-ligamentum-teres-partial-excision-and-plication-for-the-management-of-congenital-hip-dislocation
#7
Ahmed O Youssef
Because of the known tendency for early redislocation following open reduction, we developed surgical methods for shortening the ligamentum teres to improve immediate postoperative stability when performing medial approach open reduction (MAOR) for the management of developmental dysplasia of the hip. Between 2004 and 2014, 32 patients with dysplasia of the hip were managed by MAOR with partial excision and plication of ligamentum teres. The patients were followed up for an average of 6.9 years. At the final follow-up, clinical outcomes achieved were categorized as excellent and good in 39 (39/40; 97...
March 30, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#8
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28328560/surgical-treatment-of-congenital-and-obligatory-dislocation-of-the-patella-in-children
#9
Ronen Sever, Michael Fishkin, Yoram Hemo, Shlomo Wientroub, Moshe Yaniv
BACKGROUND: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#10
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28300706/tapered-stems-one-third-proximally-coated-have-higher-complication-rates-than-cylindrical-two-third-coated-stems-in-patients-with-high-hip-dislocation-undergoing-total-hip-arthroplasty-with-step-cut-shortening-osteotomy
#11
V Emre Ozden, G Dikmen, B Beksac, I Remzi Tozun
BACKGROUND: The results of cementless stems in total hip arthroplasty (THA) done because of congenital dislocation with step-cut osteotomy is not well known, particularly the influence of the design and the role of extent of porous coating. Therefore we performed a retrospective study to evaluate the mid to long-term results THA performed with a single type acetabular component and different geometry and fixation type stems with ceramic bearings in the setting of step-cut subtrochanteric osteotomy in high hip dislocated (HHD) patients...
March 11, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#12
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28278134/limited-open-quadriceps-release-for-treatment-of-congenital-dislocation-of-the-knee
#13
Ahmed Omar Youssef
BACKGROUND: Congenital dislocation of the knee (CDK) is a rare condition for which the treatment is difficult and remains controversial. The aim of this case series is to evaluate the results of limited open quadriceps release for treatment of CDK. METHODS: Sixteen patients with CDK were managed at our institute from May 2006 to May 2014, and included 10 boys and 6 girls, with a mean age at presentation of 5 weeks (range, 1 to16 wk). Three patients who had an underlying neuromuscular syndrome were excluded...
April 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28277378/congenital-radial-head-dislocation-and-low-immunoglobulin-m-levels-in-6p25-3-deletion
#14
Órla Walsh, Colleen Heffernan, Stephanie Ryan, Karina Butler, Sally A Lynch
No abstract text is available yet for this article.
March 8, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28267910/-surgical-management-of-spinal-deformity-in-a-patient-with-escobar-syndrome-review-of-the-literature
#15
M C Hernández-Hernández, J A Canales-Nájera, J S De La Cruz-Álvarez, M E Tena-Zanabria, J Matus-Jiménez
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. OBJECTIVE: To present an optional surgical technique for the management of severe spinal deformities...
July 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28253931/zika-virus-infection-of-cellular-components-of-the-blood-retinal-barriers-implications-for-viral-associated-congenital-ocular-disease
#16
Tracoyia Roach, Donald J Alcendor
BACKGROUND: Ocular abnormalities present in microcephalic infants with presumed Zika virus (ZIKV) congenital disease includes focal pigment mottling of the retina, chorioretinal atrophy, optic nerve abnormalities, and lens dislocation. Target cells in the ocular compartment for ZIKV infectivity are unknown. The cellular response of ocular cells to ZIKV infection has not been described. Mechanisms for viral dissemination in the ocular compartment of ZIKV-infected infants and adults have not been reported...
March 3, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28252480/delayed-treatment-of-a-neonatal-type-i-monteggia-fracture-dislocation-a-case-report
#17
William R Smith, Scott H Kozin, Dan A Zlotolow
Delayed diagnosis of a Monteggia fracture-dislocation changes a straightforward, treatable injury into a complex problem. Acute neonatal injuries may be missed because of the inability to visualize the unossified skeleton on radiography, interpreted later as 'congenital' dislocations. We report the case of a 14-month-old with a neonatal Monteggia type-I fracture-dislocation secondary to birth trauma, with anterior radial head dislocation and plastic deformation of the ulna. Uniplanar external fixation was used to restore ulnar length and correct angulation, with subsequent radiocapitellar joint closed reduction...
March 1, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28238810/defect-in-dermatan-sulfate-in-urine-of-patients-with-ehlers-danlos-syndrome-caused-by-a-chst14-d4st1-deficiency
#18
Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, Kazuyuki Sugahara
PURPOSE: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas)...
February 23, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28155678/compression-distraction-reduction-surgical-verification-and-optimization-to-treat-the-basilar-invagination-and-atlantoaxial-dislocation-a-finite-element-analysis
#19
Xuefeng Bo, Weida Wang, Zan Chen, Zhicheng Liu
BACKGROUND: Basilar invagination (BI) combined with atlantoaxial dislocation (AAD) leads to foramen magnum stenosis and medullary spinal cord compression, causing nerve dysfunction. The purpose of the surgery is to remove the bony compression at brainstem ventral side and fix the unstable spinal segment and make it fused stably. Occipital cervical internal fixation system that simultaneously reduces atlantoaxial horizontal and vertical dislocation are established. We propose here a new compression-distraction reduction (CDR) technique...
December 28, 2016: Biomedical Engineering Online
https://www.readbyqxmd.com/read/28148656/adolescent-patellar-instability-current-concepts-review
#20
REVIEW
D Clark, A Metcalfe, C Wogan, V Mandalia, J Eldridge
Patellar instability most frequently presents during adolescence. Congenital and infantile dislocation of the patella is a distinct entity from adolescent instability and measurable abnormalities may be present at birth. In the normal patellofemoral joint an increase in quadriceps angle and patellar height are matched by an increase in trochlear depth as the joint matures. Adolescent instability may herald a lifelong condition leading to chronic disability and arthritis. Restoring normal anatomy by trochleoplasty, tibial tubercle transfer or medial patellofemoral ligament (MPFL) reconstruction in the young adult prevents further instability...
February 2017: Bone & Joint Journal
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